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Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.

Finasteride use may cause sperm damage and infertility, stopping it can improve sperm health.

Genetic mutations can affect female sexual development, requiring personalized medical care.

Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.

5-alpha-reductase inhibitors may cause a low incidence of erectile dysfunction that decreases over time.

Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.

Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.

A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.

Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.

Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.

The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.

Hormonal imbalances are a key cause of missed menstrual periods in women.

Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.

Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.

More research is needed to understand how testosterone is maintained in adult males.

Conditions affecting sex development show that sexual diversity is a natural part of human variation.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

The document does not determine if adults with aphallia are fertile.