#microdeletion

[jcsmicasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

Clinical description

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ”mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

Management and outcome

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Discussion

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

[mrholzarkandco2]

intro!!!!!

I’m Sam aka Mr Holzark.

I have autism, ADHD, 4q35.2 Microdeletion and insomnia.

I’m a bit weird.

I’m apagender and aroace.

I make ocs

my interests:

.pokemon

.guts and blackpowder

.transformers

.gemstones and crystals

.parrots

.memes

.Severed Heads (the band)

.J-fashion

.the 80s

.kandi making

.roller skating

.sci fi

.horror

.fashion

.dark comedy

.the napoleonic wars

.art

.magical girls

.sushi

.jewellery

.science-fantasy

.obscure 80s music

.carnivals and theme parks

.robots and animatronics

.making headcannons

.ghosts

.aliens

.magic

.slime

.FNAF

.scene fashion

.merfolk

my mutuals: @kr9vorebeazt @autisticfoxgirl333 @sundove88 @m00nb04rd5 @ask-tfone-megatron @ask-tfone-optimus @decepticonjusticedivisonrevival @your-artificial-god @your-favs-as-birds

I hope y’all enjoy my stuff

[thenocturnenarrator]

Hi! I'm Kayla, and I'm very shy irl, plus I have a disorder called: 2q23.1 microdeletion of a chromosome plus a duplication called 16p.13.11, I rp as sans, Toriel, frisk, plus sometimes I rp as horror sans.

Greetings Kayla!! It’s nice to meet you! ^^

In Narra, but, since everyone calls me that sometimes, you can call me Chara -v-

[bestsexologistinindia88]

Best Ayurvedic Doctors for Male Infertility Treatment in Delhi - Best Ayurvedic Doctors for Male Infertility Treatment in Delhi NCR India

Best Doctor For Male Infertility Treatment In Delhi Male infertility is when the male partner cannot cause pregnancy in a fertile female partner. It is one of the most common conditions in males, affecting almost 7% of the male population, although much less talked about. TYPES OF MALE INFERTILITY Based on recovery of the condition, male infertility is divided into the following two types: • Complete infertility: This condition is present in the sterile male, and there are rare chances of getting fertile. Complete infertility is due to a genetic mutation that causes an inability to produce healthy sperm in sufficient concentration. Assisted reproductive technology is also of no use in such patients. The options generally available to these people are donor sperm. • Subfertility: This type of infertility is caused due to some underlying conditions that can be treated with the help of medications or surgery. Treatment for underlying diseases can restore fertility. CAUSES OF MALE INFERTILITY Various causes are involved in the development of male infertility. However, some of the common causes of male infertility are: • Genetics: Genetics is one of the most dominating factors for male infertility. It covers almost 15% of all male infertility problems. One of the most common genetic conditions for male infertility is Klinefelter’s syndrome which affects around 1 in 500 newborns. The condition is caused due to the problem in gamete formation leading to small testes, low levels of male hormones and poor sperm count. Best Sexologist in india Another genetic cause of male infertility is the microdeletions in the Y chromosomes. In this condition, the deletions in Y chromosomes lead to either absent or poor sperm count or sperms produced with altered morphology. • Spermatogenesis-altering causes Various factors affecting spermatogenesis, resulting in reduced production of sperms or poor quality sperms. Varicocele is a condition affecting almost 40% of males with infertility. This condition results in the production of excess heat in the scrotum and oxidative stress that affects spermatogenesis. Celiac disease, bicycle riding, drug addiction, excessive alcohol, and medications such as chemotherapy and steroids also involve forming sperm. Hypogonadism also results in low sperm production.

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[mattbenhews]

What Causes Male Infertility? 10 Common Reasons Explained

 When it comes to infertility, the focus often falls on women, but male infertility is just as significant and affects millions of men worldwide. In fact, about one in every five couples struggling with infertility may have a male factor contributing to the challenge. Let’s dive into the 10 most common causes of male infertility. Whether you’re seeking answers for yourself or someone close to you, understanding these causes is the first step toward finding solutions.

1. Low Sperm Count (Oligospermia)

A low sperm count is one of the most common causes of male infertility. Normal sperm count ranges from 15 million sperm per milliliter to over 200 million. If a man has fewer than 15 million sperm per milliliter, the chances of conception decrease significantly. Low sperm count can be caused by hormonal imbalances, genetic factors, or environmental exposures.

2. Poor Sperm Motility (Asthenozoospermia)

Sperm motility refers to the ability of sperm to swim efficiently toward an egg. Poor sperm motility is another leading cause of male infertility. If the sperm cannot swim effectively, they may struggle to reach and fertilize the egg, reducing the chances of conception. This can result from lifestyle choices, infections, or structural issues in the reproductive organs.

3. Abnormal Sperm Morphology (Teratozoospermia)

Sperm morphology is the study of the size and shape of sperm. Sperm with abnormal morphology (irregular shape or size) can have difficulty reaching and penetrating an egg. This condition may be linked to genetic factors, environmental toxins, or certain health conditions such as diabetes.

4. Varicocele

A varicocele is the enlargement of veins within the scrotum, similar to varicose veins that occur in the legs. It can interfere with the temperature regulation of the testicles, causing sperm production to decrease. Varicoceles are found in about 15% of the general male population but can be responsible for up to 40% of cases of male infertility.

5. Erectile Dysfunction (ED)

Erectile dysfunction, the inability to achieve or maintain an erection sufficient for sexual intercourse, can significantly impact fertility. While ED does not directly affect sperm quality, it hinders the physical ability to ejaculate during intercourse. Causes of ED include psychological factors, health conditions (e.g., diabetes), or side effects from medications.

6. Testicular Ailments (Infections or Injury)

Infections such as epididymitis, orchitis, and sexually transmitted infections (STIs) can impact sperm production and function. Testicular injuries or surgeries can also damage sperm-producing cells, leading to infertility. Conditions like mumps, if contracted after puberty, can also affect the testicles and lead to permanent infertility.

7. Hormonal Imbalances

Hormones play a crucial role in sperm production. An imbalance in hormones like testosterone, thyroid hormone, or prolactin can disrupt the production of sperm. Conditions such as hypogonadism (low testosterone levels), obesity, or pituitary gland problems can lead to hormonal imbalances that affect male fertility.

8. Genetic Factors

Genetics can significantly influence male fertility. Conditions such as Klinefelter syndrome (an extra X chromosome), Y-chromosome microdeletions, or cystic fibrosis can lead to infertility. In some cases, genetic abnormalities affect the production or function of sperm, while in others, they affect the structure of the reproductive organs.

9. Lifestyle Factors

Smoking, excessive alcohol consumption, recreational drug use, and poor diet can all decrease sperm quality. Regular physical activity is essential for maintaining overall health, but excessive exercise or heat exposure (such as frequent use of saunas or hot tubs) may negatively impact sperm production.

10. Environmental and Occupational Factors

Exposure to environmental toxins and chemicals, such as pesticides, heavy metals, or industrial chemicals, can impair sperm production. Men working in occupations involving exposure to toxic substances, such as welding or chemical manufacturing, may have a higher risk of infertility. Similarly, radiation and prolonged exposure to high temperatures can also decrease sperm count and quality.

Early intervention, lifestyle changes, and medical treatments are often effective in overcoming male infertility. For those looking for expert care, Prashanth IVF offers the best treatment options for male fertility, with a team of specialists dedicated to providing personalized, cutting-edge solutions.

[azoospermiatreatmentcostindia]

Defining Azoospermia Treatment Cost in India, A Complete Guidance

Azoospermia is a medical condition in which an affected male has no sperm in semen or absence of sperm at the time of ejaculation. There are various factors which are responsible for this unhealthy condition including genetics, hormonal imbalance, blockage of reproductive organs etc. Thanks to modern medical science that now this condition can be cured through several techniques. 

Azoospermia treatment cost in India has various packages for proper treatment and it depends on the condition of patients. The cost of azoospermia treatment varies widely based on the underlying cause, diagnostic procedures, and the type of treatment required. This article provides a detailed overview of the costs associated with azoospermia treatment in India, along with an explanation of the treatment options available.

Types and Diagnosis of Azoospermia 

Azoospermia has no external symptoms it is diagnosed when there is no conception even after not using any kind of contraception. Intimacy is a necessary part of the case of the first diagnosis of azoospermia. There are two types of Azoospermia defined in medical books first is obstructive and the other is non-obstructive 

Types of Azoospermia 

Azoospermia is defined based on reproductive blockages and sperm synthesis. The two types of azoospermia are: 

Obstructive Azoospermia (OA): Caused by blockages in the reproductive tract that prevent sperm from reaching the ejaculate.

Non-obstructive azoospermia (NOA): Results from impaired sperm production due to hormonal, genetic, or testicular issues.

Diagnosis of Azoospermia 

Low sperm count can be diagnosed with various methods including hormonal analysis, MRI, genetic testing and testicular biopsy. Azoospermia treatment cost in India is also different based on diagnosis and methods of treatment. Some problems can be solved with azoospermia treatment tablets and others may need surgery or any other treatment method. 

Hormonal Analysis: Hormonal tests measure levels of testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) to identify hormonal imbalances.

Genetic Testing: Genetic tests, such as karyotyping or Y-chromosome microdeletion analysis, help detect hereditary causes of azoospermia. 

Imaging Studies: Scrotal ultrasound and MRI are used to detect abnormalities in the testicles or reproductive tract.

Testicular Biopsy: A testicular biopsy involves sampling tissue from the testicles to assess sperm production.

Semen Analysis: This basic test is used to confirm the absence of sperm in the ejaculate.

Azoospermia Treatment Cost in India 

The choice of treatment for azoospermia depends on whether the condition is obstructive or non-obstructive. In this case, diagnosis is necessary no one can take pills without a doctor’s consultation. Based on the problem there are a few treatments you can check:

Medical Management

Overview: Hormonal therapy or medications may be prescribed to correct hormonal imbalances or stimulate sperm production.

Common Medications: Clomiphene citrate, gonadotropins, or testosterone supplements.

Cost: 2,000 to 5,000 rupees per month

2. Surgical Treatments

 Medical management is a different thing and azoospermia surgery cost has different packages. They include all kinds of surgical packages. 

a. Vasoepididymostomy or Vasovasostomy

Overview: These microsurgical procedures are used to remove blockages in the reproductive tract.

Cost: 75,000 to 1,50,000 rupees 

b. Testicular Sperm Extraction (TESE)

Overview: A procedure to extract sperm directly from the testicles for use in assisted reproductive techniques.

Cost: 50,000 to 1,00,000 rupees 

c. Microsurgical Testicular Sperm Extraction (Micro-TESE)

Overview: A more advanced and precise version of TESE.

Cost: 1,00,000 to 2,00,000 rupees 

3. Assisted Reproductive Techniques (ART)

a. In Vitro Fertilization (IVF)

Overview: Eggs are fertilized with sperm in a laboratory, and the resulting embryos are implanted into the uterus.

Cost: 1,00,000 to 2,50,000 per cycle

b. Intracytoplasmic Sperm Injection (ICSI)

Overview: A single sperm is injected directly into an egg during IVF to increase the chances of fertilization.

Cost: 1,50,000 to 2,50,000 rupees per cycle

c. Donor Sperm Programs

Overview: If no viable sperm can be retrieved, couples may opt for donor sperm.

Cost: 10,000 to 20,000 INR for sperm donation, plus IVF/ICSI costs. 

Benefits of Seeking Azoospermia Treatment in India

India is a big country with multiple options for medical treatment whether it is male or female treatment. IVF cost in India and azoospermia treatment cost in India is much cheaper than that of developed countries like the US and Australia. There are more than a dozen benefits of taking the benefits from India lets count them one by one.

Treatment cost in India is much cheaper than that of other countries.

When we talk about assisted reproductive technologies they are not legalised by every country and there is full support for such treatment in India. 

India is a middleman between cost and modern technologies. Here you can find all types of technical types of equipment for a better treatment experience.

The infrastructure of clinics and medical agencies is also not as complex as in some other countries. 

India has experienced hands-on treatment with most of the reproductive specialists trained in international institutions. They are working in metropolitan cities of India to ensure good quality of treatment. 

There is a long list of patients waiting for their treatment but Indian doctors have minimal waiting time. 

Counselling follow-up sessions and medical check-ups on time are kind of additional facilities which is not counted anywhere in the price list. 

There is a skilled team with smooth handling tasks and it is a perfect combination for any treatment. 

Clinics like the World Fertility Services are working primarily on both male and female reproductive issues and you can also check their servics from their official website. 

Conclusion

Azoospermia treatment cost in India is cheaper than any other country. Also, there are variety of solutions that can be provided by doctors on the basis of their experience. Those who are facing issues in becoming a parent because of azooespermia and any male infertility issue then they can definetely try Indian fertility clinics. World Fertility services in India is a best option for all kinds of reproductive issues in males and females.

[addonhealthcare]

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[gestationalsurrogacy]

Types of Male Infertility Problems

Male infertility is a common issue affecting couples trying to conceive. Approximately 40–50% of infertility cases are attributed to male factors. There are various causes behind male infertility, and understanding these issues can help address them effectively. In this article, we will explore the types of male infertility problems and the ways in which they impact fertility.

1. Low Sperm Count (Oligospermia)

Low sperm count, also known as oligospermia, is one of the most common causes of male infertility. It occurs when the semen contains fewer sperm cells than the optimal amount required for fertilization. A normal sperm count should be at least 15 million sperm per milliliter. Various factors, such as hormonal imbalances, genetic disorders, or exposure to heat, toxins, and certain medications, can lead to low sperm count.

2. Poor Sperm Motility (Asthenospermia)

Sperm motility refers to the ability of sperm to move efficiently through the female reproductive tract to reach the egg. Poor sperm motility, or asthenospermia, hinders the chances of successful fertilization, as sperm cannot swim effectively. Causes of poor motility include infections, varicocele, smoking, excessive alcohol consumption, and exposure to chemicals.

3. Abnormal Sperm Shape (Teratospermia)

The shape and structure of sperm are crucial for successful conception. Abnormally shaped sperm, a condition known as teratospermia, may struggle to fertilize an egg due to structural issues. The abnormality could be related to the sperm head, tail, or overall size, reducing the sperm’s ability to penetrate and fertilize the egg. Lifestyle factors and genetics often play a role in teratospermia.

4. Varicocele

Varicocele is a condition characterized by the swelling of veins within the scrotum, similar to varicose veins in the legs. It can lead to decreased sperm quality and count due to increased temperature in the testes, which negatively affects sperm production. Varicocele is treatable, and in some cases, surgical correction can improve fertility outcomes.

5. Hormonal Imbalances

Contact Us:

Phone: +91–9899293903 Email: Info@gestationalsurrogacyindia.com

6. Ejaculation Disorders

Ejaculation issues can also contribute to male infertility. Retrograde ejaculation occurs when semen enters the bladder instead of being expelled from the penis. Other disorders, such as premature or delayed ejaculation, can also hinder the chances of conception. These conditions may arise from nerve damage, diabetes, or surgeries, but can often be treated with medications or therapy.

7. Genetic Disorders

Certain genetic conditions, such as Klinefelter syndrome, Y chromosome microdeletions, or cystic fibrosis, can lead to male infertility by impairing sperm production or function. Genetic testing is often recommended for men with no other identifiable cause of infertility, as some of these conditions are inherited.

8. Lifestyle Factors

Unhealthy lifestyle habits such as smoking, excessive alcohol intake, drug abuse, obesity, and exposure to environmental toxins can negatively impact sperm health. Making positive lifestyle changes like improving diet, exercising, and reducing stress can significantly enhance fertility in some cases.

Conclusion

Understanding the different types of male infertility problems is the first step towards addressing them. From low sperm count to genetic disorders, each condition requires targeted treatment for the best chance of successful conception. If you or your partner are experiencing fertility challenges, it’s essential to consult a specialist to determine the root cause and explore treatment options, such as those offered through Gestational Surrogacy India.

Contact Us:

Phone: +91–9899293903 Email: Info@gestationalsurrogacyindia.com

[pathologylab]

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[twinkl22004]

“Azoospermia Factor”, Victor McKusick, “Mendelian Inheritance in Man”, 1966.

Here I present: Azoospermia Factor”, Victor McKusick, “Mendelian Inheritance in Man’, 1966.   Azoospermia factor (AZF), plus another  dozen (12) traits, are common male #Y chromosome disorders (shown ABOVE).INTRODUCTION. Azoospermia factor (AZF) is one of several genes, which are coded from the AZF region on the human male Y chromosome.  AZF microdeletions are one of the major causes of male…

[mohakivf]

First Indian Female Infertility Specialist Who Performed First ever Micro-TESE Procedure using Apple Vision Pro Technology

Azoospermia is a condition characterized by the complete absence of sperm cells in a man’s ejaculate. This is a serious form of male infertility that can have a variety of underlying causes. In men with azoospermia, the testes are unable to produce any viable sperm cells, which means they lack the ability to naturally fertilize a female partner’s egg during sexual intercourse. However, advances in assisted reproductive technologies, such as sperm extraction procedures and in vitro fertilization, have provided new hope for many azoospermic men to fulfill their dreams of fatherhood. With proper medical evaluation and treatment, many men with azoospermia can still achieve their goal of biological parenthood, despite the obstacles they face.

Male azoospermia, the absence of sperm in the ejaculate, can be caused by a variety of factors:

Obstructive Causes: Blockages in the reproductive tract, such as from previous surgeries, infections, or congenital conditions, can prevent sperm from being present in the ejaculate.

Non-Obstructive Causes: Issues with sperm production in the testes, due to genetic factors (like Klinefelter syndrome), hormonal imbalances, or damage from infections, can lead to azoospermia.

Genetic Factors: Chromosomal abnormalities, such as Y chromosome microdeletions, can impair sperm production.

Environmental Factors: Exposure to toxins, radiation, or excessive heat can negatively affect sperm production.

Medical Condition: Conditions such as diabetes, autoimmune diseases, or certain medications can also impact sperm production.

Diagnosing the exact cause often requires a combination of medical history, physical exams, hormonal assessments, and genetic testing.

Treatment for Male Azoospermia 

Treatment for male azoospermia, which is a condition where there is no sperm in the semen, depends on the underlying cause. Here are some common approaches:

Hormonal Therapy: If the azoospermia is due to hormonal imbalances, medications to correct hormone levels may be prescribed.

Lifestyle Changes: Improving lifestyle factors such as diet, exercise, and avoiding harmful substances can sometimes improve sperm production.

Assisted Reproductive Technologies (ART): In cases where natural treatment isn’t effective, ART techniques like intracytoplasmic sperm injection (ICSI) can be used, often with sperm retrieved directly from the testicles.

Genetic Counseling: If the azoospermia is due to genetic factors, counseling and evaluation of reproductive options might be necessary.

Surgical Options: For cases caused by blockages in the reproductive tract, surgery can sometimes restore sperm flow. Procedures like  testicular sperm extraction (TESE) may be used.

Testicular sperm extraction (TESE) is a medical procedure used to retrieve sperm directly from the testicles. It’s often performed on men who have obstructive azoospermia (a condition where sperm can’t travel from the testicles to the ejaculate due to a blockage) or non-obstructive azoospermia (a condition where sperm production is inadequate). The retrieved sperm can then be used for assisted reproductive techniques such as in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).

Dr. Shilpa Bhandari recently introduced the Micro TESE procedure with Apple Vision Pro -  A Game Changer in male infertility. She is the first Indian female infertility specialist to perform the world's first Micro TESE procedure using cutting-edge Apple Vision Pro technology. Apple Vision has identified viable sperm in azoospermia men with an offer of hope for those infertile couples. This big decision of Dr. Shilpa Bhandari will bloom the minds of many couples and also serve the higher chances in assisted reproductive technology. The Apple Vision Pro is a mixed-reality headset designed for immersive experiences with augmented reality (AR) and virtual reality (VR). It features advanced optics, spatial audio, and hand-tracking capabilities.

[jamiecormier]

I'm Backkk!!!!

Hey Everyone, Sorry for the “hiatus”. Things got chaotic but in a good way for the most part. In March 2023, I returned to Baylor in Houston and got the results of my bloodwork – My “Chromosome Microdeletion” is 15.21.1-15.21.2 (its rather small) and very rare. there is no other deletion exactly like mine, there are some that are similar, but I am a medical anomaly (as if I didn’t know that…

[drrakeshsharma]

What diagnostic tests are typically used to assess male infertility in Jaipur?

Male infertility is a multifaceted issue that can arise from various underlying causes. In Jaipur, a city with a growing healthcare infrastructure, several diagnostic tests are utilized to identify and address male fertility concerns. If you or someone you know is facing infertility issues, understanding these tests can be an essential step toward effective diagnosis and treatment. Here’s an overview of the typical diagnostic tests used to assess male infertility:

1. Seminal Analysis (Semen Analysis)

Description: Seminal analysis is often the first test performed to evaluate male fertility. It examines the quantity and quality of sperm in a semen sample.

What It Measures:

Sperm Count: The number of sperm present in the ejaculate.

Sperm Motility: The percentage of sperm that are moving and their movement patterns.

Sperm Morphology: The shape and size of sperm.

Seminal Fluid Volume: The total volume of semen produced.

pH Level: The acidity or alkalinity of the semen.

Procedure: The patient provides a semen sample, usually after a period of abstinence. This sample is analyzed in a lab.

Where to Get It: Leading diagnostic centers and fertility clinics in Jaipur such as Fortis Escorts Hospital, and Medanta, offer seminal analysis services.

2. Hormonal Testing

Description: Hormonal testing assesses the levels of hormones that regulate sperm production and sexual function.

What It Measures:

Testosterone: The primary male sex hormone.

Luteinizing Hormone (LH): Stimulates testosterone production.

Follicle-Stimulating Hormone (FSH): Important for sperm production.

Prolactin: Elevated levels can affect fertility.

Procedure: Blood samples are drawn to measure hormone levels.

Where to Get It: This test is commonly available at diagnostic labs and hospitals like Apollo Hospitals and Rajasthan Hospital in Jaipur.

3. Genetic Testing

Description: Genetic testing identifies chromosomal abnormalities or genetic conditions that might affect fertility.

What It Measures:

Karyotype Analysis: Examines the number and structure of chromosomes.

Y-Chromosome Microdeletions: Specific deletions on the Y chromosome that can impact sperm production.

Procedure: Blood samples are analyzed for genetic markers.

Where to Get It: Specialized genetic labs and fertility clinics in Jaipur, such as Jaipur Fertility Centre, offer these services.

4. Scrotal Ultrasound

Description: A scrotal ultrasound provides images of the testicles and surrounding structures.

What It Measures:

Testicular Size and Structure: Identifies abnormalities like varicoceles or tumors.

Epididymal Issues: Evaluates conditions affecting sperm transport.

Procedure: This is a non-invasive imaging test using sound waves to create images of the scrotum.

Where to Get It: Available at major hospitals and diagnostic centers with imaging facilities, including Manipal Hospital and the Advanced Centre for Urology in Jaipur.

5. Post-Ejaculation Urine Analysis

Description: This test assesses whether sperm are present in the urine after ejaculation, which may indicate a condition known as retrograde ejaculation.

What It Measures:

Presence of Sperm: Detects sperm in the urine.

Procedure: Urine samples are collected after ejaculation and analyzed in a lab.

Where to Get It: This test can be conducted at fertility clinics and advanced diagnostic centers in Jaipur.

6. Testicular Biopsy

Description: A testicular biopsy is performed to directly examine the tissue of the testicles.

What It Measures:

Sperm Production: Assesses the presence of sperm within the testicular tissue.

Testicular Health: Identifies conditions like testicular failure.

Procedure: A small sample of testicular tissue is removed and examined under a microscope.

Where to Get It: Performed by urologists or fertility specialists at hospitals such as SMS Medical College Hospital or other specialized fertility centers in Jaipur.

Conclusion

Assessing male infertility involves a combination of diagnostic tests to pinpoint the underlying issues affecting sperm production and overall reproductive health. In Jaipur, a range of advanced medical facilities and diagnostic centers are equipped to perform these tests, offering a pathway to effective treatment and management. Consulting with a fertility specialist can help determine which tests are necessary based on individual symptoms and medical history.

For those seeking assistance, renowned institutions and clinics in Jaipur provide comprehensive diagnostic services and can guide you through the process of evaluation and treatment.

[mxoleander]

oh btw it turns out I have a microdeletion that makes me genetically an asshole and so does my mom and brothers

[healthyheart4u]

Male Fertility Overcoming Common Issues with Expert Treatments | Find the Best Gynecologist in Delhi

 Fertility issues are a common concern for many couples trying to conceive. While female fertility often gets more attention, male fertility problems can be equally significant. Understanding the common issues affecting male fertility and the available treatment options is crucial for couples facing difficulties in starting a family.

 Common Issues Affecting Male Fertility

Low Sperm Count

. one of the maximum commonplace causes of male infertility is a low sperm count.  This condition, known as oligospermia, means that the semen a man ejaculates contains fewer sperm than normal. Severe cases, called azoospermia, involve the complete absence of sperm in the ejaculate.

Poor Sperm Motility

Motility refers to the ability of sperm to move efficiently. In the Help of Best Infertility Clinic in Delhi  If sperm related problram and not moving properly, they may struggle to reach and fertilize the egg. Poor sperm motility, or asthenozoospermia, can significantly reduce the chances of conception.

Abnormal Sperm Shape

   The shape of sperm, or morphology, is another crucial factor. Sperm with abnormal shapes may not be able to fertilize an egg effectively. This condition is known as teratozoospermia.

Hormonal Imbalances

gulating sperm production. Imbalances in hormones such as testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) can impair sperm production and function.

Genetic Factors

certain genetic conditions, including Klinefelter syndrome or Y chromosome microdeletions, can have an effect on sperm manufacturing and exceptional  . These genetic issues can be inherited or occur spontaneously.

Varicocele

   A varicocele is an enlargement of the veins within the scrotum, similar to varicose veins in the legs. This condition can lead to reduced sperm production and quality, often requiring surgical intervention.

Infections

   Infections in the reproductive tract, such as epididymitis or prostatitis, can affect sperm production and health. Sexually transmitted infections (STIs) can also cause infertility if left untreated.

Lifestyle Factors

lifestyle alternatives may have a substantial effect on male fertility.. Factors such as smoking, excessive alcohol consumption, drug use, poor diet, obesity, and exposure to environmental toxins can all contribute to infertility.

Treatment Options for Male Fertility Issues

Lifestyle Changes

   Simple lifestyle changes can often improve fertility. Quitting smoking, reducing alcohol intake, maintaining a healthy weight, and avoiding drug use can enhance sperm quality. Eating a balanced diet rich in antioxidants, vitamins, and minerals also supports reproductive health.

Medications

Hormonal treatments can address imbalances affecting sperm production. For instance, medications like clomiphene citrate or gonadotropins may stimulate sperm production. Antibiotics can treat infections impacting fertility.

Surgery

   Surgical procedures can correct physical abnormalities affecting fertility. Varicocele repair is a common surgery that improves sperm quality by removing enlarged veins in the scrotum. In cases of obstructive azoospermia, surgery can remove blockages in the reproductive tract.

Assisted Reproductive Technologies (ART)

   Assisted reproductive technologies offer various options for couples facing infertility. Intrauterine insemination (IUI) involves placing sperm directly into the uterus to increase the chances of fertilization. In vitro fertilization (IVF) is another option where eggs are fertilized outside the body and then implanted into the uterus. Intracytoplasmic sperm injection (ICSI) involves injecting a single sperm directly into an egg, often used when sperm count or motility is severely impaired.

Sperm Retrieval Techniques

   For men with no sperm in their ejaculate, sperm retrieval techniques can be used. These include testicular sperm extraction (TESE) and percutaneous epididymal sperm aspiration (PESA).Retrieved sperm can then be used in art techniques like IVF or ICSI.

Donor Sperm

   In cases where male infertility cannot be treated effectively, using donor sperm is an option. Donor sperm can be used in IUI or IVF procedures to achieve pregnancy

Donor sperm may be utilized in IUI or IVF strategies to acquire pregnancy.

Choosing the Best Fertility Clinic

When facing fertility challenges, selecting the right clinic is crucial. The Best Fertility Clinic in Geeta Colony  and the  Best Fertility Clinic in Gazipur  are renowned for their high success rates and comprehensive services. These clinics offer state-of-the-art facilities and experienced specialists to guide you through the treatment process.

If you are seeking treatment in Delhi, consider the Best Infertility Clinic in Delhi and the Best Infertility Treatment in Delhi. These clinics provide personalized care and advanced treatment options to address both male and female infertility issues.

For those considering IVF, the Best IVF Centre in Delhi offers cutting-edge technology and expert care. Choosing a reputable clinic ensures you receive the highest standard of treatment and support throughout your fertility journey.

Why You Need the Best Gynecologist in Delhi

Finding the Best Gynecologist in Delhi  is essential for comprehensive fertility care. A skilled gynecologist can accurately diagnose underlying issues and recommend appropriate treatments. They work closely with fertility specialists to create a tailored treatment plan, ensuring the best possible outcome.

A top gynecologist provides valuable support and guidance, helping you navigate the emotional and physical challenges of infertility. Their expertise and compassionate care make a significant difference in your journey to parenthood.

  Conclusion

Male fertility issues are common but treatable. Understanding the common problems and available treatments is the first step toward overcoming infertility. Lifestyle changes, medications, surgery, and assisted reproductive technologies offer hope to many couples.

Choosing the right fertility clinic and gynecologist is crucial for successful treatment. The Best Fertility Clinic in Geeta Colony,  Best Fertility , and top clinics in Delhi provide exceptional care and support. Consult with the Best Gynecologist in Delhi to ensure comprehensive and effective fertility treatment.

With the right assist and treatment, many couples can attain their dream of parenthood. Don’t hesitate to are trying to find assist and discover the options available to you.

For more information:- https://drnalinigupta.in/

Contact us at:-+91 9599754466

Email us at:- info@drnalinigupta.com

[healthyidea4u]

Male Fertility Overcoming Common Issues with Expert Treatments | Find the Best Gynecologist in Delhi

Fertility issues are a common concern for many couples trying to conceive. While female fertility often gets more attention, male fertility problems can be equally significant. Understanding the common issues affecting male fertility and the available treatment options is crucial for couples facing difficulties in starting a family.

 Common Issues Affecting Male Fertility

Low Sperm Count

. one of the maximum commonplace causes of male infertility is a low sperm count.  This condition, known as oligospermia, means that the semen a man ejaculates contains fewer sperm than normal. Severe cases, called azoospermia, involve the complete absence of sperm in the ejaculate.

Poor Sperm Motility

Motility refers to the ability of sperm to move efficiently. In the Help of Best Infertility Clinic in Delhi  If sperm related problram and not moving properly, they may struggle to reach and fertilize the egg. Poor sperm motility, or asthenozoospermia, can significantly reduce the chances of conception.

Abnormal Sperm Shape

   The shape of sperm, or morphology, is another crucial factor. Sperm with abnormal shapes may not be able to fertilize an egg effectively. This condition is known as teratozoospermia.

Hormonal Imbalances

gulating sperm production. Imbalances in hormones such as testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) can impair sperm production and function.

Genetic Factors

certain genetic conditions, including Klinefelter syndrome or Y chromosome microdeletions, can have an effect on sperm manufacturing and exceptional  . These genetic issues can be inherited or occur spontaneously.

Varicocele

   A varicocele is an enlargement of the veins within the scrotum, similar to varicose veins in the legs. This condition can lead to reduced sperm production and quality, often requiring surgical intervention.

Infections

   Infections in the reproductive tract, such as epididymitis or prostatitis, can affect sperm production and health. Sexually transmitted infections (STIs) can also cause infertility if left untreated.

Lifestyle Factors

lifestyle alternatives may have a substantial effect on male fertility.. Factors such as smoking, excessive alcohol consumption, drug use, poor diet, obesity, and exposure to environmental toxins can all contribute to infertility.

Treatment Options for Male Fertility Issues

Lifestyle Changes

   Simple lifestyle changes can often improve fertility. Quitting smoking, reducing alcohol intake, maintaining a healthy weight, and avoiding drug use can enhance sperm quality. Eating a balanced diet rich in antioxidants, vitamins, and minerals also supports reproductive health.

Medications

Hormonal treatments can address imbalances affecting sperm production. For instance, medications like clomiphene citrate or gonadotropins may stimulate sperm production. Antibiotics can treat infections impacting fertility.

Surgery

   Surgical procedures can correct physical abnormalities affecting fertility. Varicocele repair is a common surgery that improves sperm quality by removing enlarged veins in the scrotum. In cases of obstructive azoospermia, surgery can remove blockages in the reproductive tract.

Assisted Reproductive Technologies (ART)

   Assisted reproductive technologies offer various options for couples facing infertility. Intrauterine insemination (IUI) involves placing sperm directly into the uterus to increase the chances of fertilization. In vitro fertilization (IVF) is another option where eggs are fertilized outside the body and then implanted into the uterus. Intracytoplasmic sperm injection (ICSI) involves injecting a single sperm directly into an egg, often used when sperm count or motility is severely impaired.

Sperm Retrieval Techniques

   For men with no sperm in their ejaculate, sperm retrieval techniques can be used. These include testicular sperm extraction (TESE) and percutaneous epididymal sperm aspiration (PESA).Retrieved sperm can then be used in art techniques like IVF or ICSI.

Donor Sperm

   In cases where male infertility cannot be treated effectively, using donor sperm is an option. Donor sperm can be used in IUI or IVF procedures to achieve pregnancy

Donor sperm may be utilized in IUI or IVF strategies to acquire pregnancy.

Choosing the Best Fertility Clinic

When facing fertility challenges, selecting the right clinic is crucial. The Best Fertility Clinic in Geeta Colony  and the  Best Fertility Clinic in Gazipur  are renowned for their high success rates and comprehensive services. These clinics offer state-of-the-art facilities and experienced specialists to guide you through the treatment process.

If you are seeking treatment in Delhi, consider the Best Infertility Clinic in Delhi and the Best Infertility Treatment in Delhi. These clinics provide personalized care and advanced treatment options to address both male and female infertility issues.

For those considering IVF, the Best IVF Centre in Delhi offers cutting-edge technology and expert care. Choosing a reputable clinic ensures you receive the highest standard of treatment and support throughout your fertility journey.

Why You Need the Best Gynecologist in Delhi

Finding the Best Gynecologist in Delhi  is essential for comprehensive fertility care. A skilled gynecologist can accurately diagnose underlying issues and recommend appropriate treatments. They work closely with fertility specialists to create a tailored treatment plan, ensuring the best possible outcome.

A top gynecologist provides valuable support and guidance, helping you navigate the emotional and physical challenges of infertility. Their expertise and compassionate care make a significant difference in your journey to parenthood.

  Conclusion

Male fertility issues are common but treatable. Understanding the common problems and available treatments is the first step toward overcoming infertility. Lifestyle changes, medications, surgery, and assisted reproductive technologies offer hope to many couples.

Choosing the right fertility clinic and gynecologist is crucial for successful treatment. The Best Fertility Clinic in Geeta Colony,  Best Fertility , and top clinics in Delhi provide exceptional care and support. Consult with the Best Gynecologist in Delhi to ensure comprehensive and effective fertility treatment.

With the right assist and treatment, many couples can attain their dream of parenthood. Don’t hesitate to are trying to find assist and discover the options available to you.

For more information:- https://drnalinigupta.in/

Contact us at:-+91 9599754466

Email us at:- info@drnalinigupta.com