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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.

A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

Idiopathic hirsutism may be linked to increased enzyme activity.

Inhibitors of the enzyme 5 alpha-reductase could potentially treat disorders like prostate cancer and baldness.

Adding a specific gene to skin cells can help treat skin disorders like psoriasis.

HSD11b1 affects skin nerves and increases non-histaminergic itch.

Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.

Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

Androstanediol glucuronide is a reliable marker for hirsutism in women.

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.

Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.

Acne not improved by usual treatments may indicate a genetic disorder.

Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

Modifying steroidal inhibitors shows promise for developing new cancer treatments.

Measuring 17-hydroxyprogesterone in hair can help monitor androgen levels in people with congenital adrenal hyperplasia.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Girls with PCOS have higher levels of certain androgens, which are linked to excess hair growth, but these androgens don't help diagnose PCOS.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Dihydrotestosterone (DHT) and its active metabolites play a key role in various diseases, and the development of 5α-reductase inhibitors can help treat these conditions.

Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.

Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.