Search

everythinglearnresearchcommunity

for

Search:↓

Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.

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

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

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

A specific gene mutation causes severe skin and nail issues and hair loss.

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

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

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

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

A woman's mature cystic teratoma caused her virilization by producing testosterone.

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

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

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.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

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

A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.

Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.

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.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

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

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.

A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.

5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.

A male with aromatase deficiency improved bone health with estradiol treatment.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

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

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.