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Glossary Hereditary Vitamin D Resistant Rickets

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 Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

107 citations , March 2014 in “BoneKEy Reports”

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

47 citations , February 1998 in “Journal of bone and mineral research”

In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.

research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

37 citations , August 2011 in “Journal of Bone and Mineral Research”

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

12 citations , September 2017 in “JDR Clinical & Translational Research”

In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

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community Is Vitamin D the cause of my baldness or slow regrowth?

in Is this regrowth? 1 upvotes 10 months ago

The conversation discusses hair loss treatments, including oral finasteride, topical minoxidil, and microneedling, and the potential impact of Vitamin D and folic acid deficiencies on hair regrowth. It suggests that while male pattern baldness is the primary cause, addressing vitamin deficiencies may aid in improving regrowth.

community Balding at the age of 17 years old

14 upvotes 2 years ago

A 17-year-old experiencing hair loss is using Minoxidil but is hesitant about Finasteride due to potential side effects. Others recommend Finasteride for its effectiveness and suggest alternatives like vitamins and derma rollers.

community Study: There is 70x Higher Unconjugated DHT in Feces Compared To Blood Levels in Young Adults - Gut Microbiota Manages DHT Recycling and Metabolism

in Research/Science 194 upvotes 1 year ago

Gut microbiota significantly influences androgen metabolism, impacting hair loss treatments like finasteride. Probiotics, dietary changes, and fecal microbiota transplants may help manage DHT levels and improve hair health.

community Female, 27 years old, shedding/ balding despite being on what is considered to be a effective treatment plan for AGA. Considering Dut (oral) . Please help.

in Finasteride/Dutasteride 27 upvotes 1 year ago

A 27-year-old woman with androgenic alopecia is losing hair despite using oral minoxidil and spironolactone, and is considering dutasteride. She is exploring causes like stress and medication side effects, planning tests, and considering treatment changes.

community Don't discount diet for the sake of scalp health. Meds had no effect for 2+ years. 3.5 months since new diet / Shampoo routine.

in Progress Pictures 300 upvotes 2 years ago

Diet and specific shampoo improved scalp health and hair regrowth for someone with seborrheic dermatitis, while medications like Minoxidil and finasteride had no effect. A low-sugar, keto diet was key to their success.

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