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GlossaryHereditary Vitamin D Resistant Rickets (VDDR2)

genetic disorder causing poor bone development despite normal vitamin D levels

Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare genetic disorder where the body is unable to properly respond to vitamin D, leading to poor bone development and rickets despite normal or high levels of vitamin D in the blood. This condition is caused by mutations in the vitamin D receptor (VDR) gene, which impairs the body's ability to absorb calcium and phosphate, essential for healthy bone formation.

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research An Unusual Presentation of Vitamin D Dependent Rickets Type 2 with Low 25(OH)D3 Levels and Alopecia: A Case Report of Two Siblings

July 2022 in “International Journal of Contemporary Pediatrics”

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report

January 2024 in “Clinical, cosmetic and investigational dermatology”

A child with a rare vitamin D-resistant condition improved with treatment.

research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

October 2024 in “Journal of the Endocrine Society”

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

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations, June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

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

research Dermatologic Manifestations of Endocrine Disorders

11 citations, July 2012 in “Current Opinion in Pediatrics”

Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.

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community My Theory Regarding a Cause and Cure for Androgenetic Alopecia

in Treatment 98 upvotes 4 years ago

Hair loss theory suggests imbalance between Vitamin D Receptor (VDR) and Androgen Receptor (AR) activation. Proposed treatment includes upregulating VDR, downregulating AR, and improving mitochondrial health.