Search

everythinglearnresearchcommunity

for

Search:↓

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.

High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.

Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

Human enzymes can detoxify harmful substances but might also increase their cancer risk.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.

Genetics play a role in acne, but how exactly they contribute is not fully understood.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

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

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

Keratin mutations cause skin diseases and could lead to new treatments.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Hormones and genes affect hair growth and male baldness.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.