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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.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.

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

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

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

5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

A vitamin D receptor mutation causes rickets and affects immune responses.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

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

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.

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

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Cinacalcet may help treat hereditary vitamin D resistant rickets safely.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.