research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
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research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research Fertility Counseling and Preservation: Considerations for the Pediatric Endocrinologist
Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
research Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male
The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.
research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research Klinefelter Syndrome and Chronic Leg Ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review
Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
research Sperm Aneuploidy in Infertile Male Patients: A Systematic Review of the Literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
research Gonadal Dysgenesis and Bone Metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research 5-Alpha Reductase Inhibitors and Risk of Male Breast Cancer: A Systematic Review and Meta-Analysis
Taking 5-alpha reductase inhibitors does not increase the risk of breast cancer in men.
research The First Visit: Consultation and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research A Biochemical Marker In A Dominant Mouse Trait
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Adult Patients with Aphallia: Were They Fertile?
The document does not determine if adults with aphallia are fertile.
research Tuberous Sclerosis: Clinical Findings in 57 Patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Numerous Faces of Yellow Dots: Dermatoscopic Features in Various Types of Effluvium
Yellow dots look different in various hair loss conditions and can help diagnose them.
research Dominant Dystrophic Epidermolysis Bullosa: Seven Familial Cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Tackling Underrepresentation to Aid Understanding of Parkinson’s Disease: Progress and Further Opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research The Story of When Kidneys Fail and the Contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
research The Diversity of Sex Development: What Conditions Affecting Sex Development Teach Us About Sexual Diversity
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
research The Effects of Androgens on T Cells: Clues to Female Predominance in Autoimmune Liver Diseases
Androgens may influence T cells, contributing to higher autoimmune liver disease risk in women.
research Childhood-Onset Systemic Lupus Erythematosus with Trisomy X and Increased Risk for Bone Complications: A Case Report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research Hormonal, Medical, and Nonsurgical Aspects of Gender Affirmation
The document concludes that gender-affirming treatments are essential for transgender individuals and outlines safe hormone therapy practices.