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Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.

A girl had rickets due to a gene mutation affecting vitamin D response.

Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Human adrenals and gonads have a unique enzyme for steroid hormone production.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

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A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

The enzyme 17β-HSD type 2 mainly performs oxidation in human sebaceous glands, which may help protect against acne.

Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.