Search

everythinglearnresearchcommunity

for

Search:↓

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

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.

Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.

Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.

Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

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

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Accurate assessment of puberty using Tanner staging is crucial for identifying normal and abnormal development.

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 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.

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

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

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

New genes and pathways are important for testosterone production and male sexual development.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

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

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.

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.

Neuregulin3 affects cell development in the skin and mammary glands.

Finasteride exposure affects gene expression and anogenital distance in male rat fetuses.

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.

Athletes use steroids to enhance performance despite health risks and legal issues, and education on their dangers is needed.

Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Understanding how DHT works is important for diagnosing and treating hormone-related disorders.

Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.

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

Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.