50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
January 2026 in “International Journal of Dermatology Venereology and Leprosy Sciences” Intradermal dutasteride effectively and safely improves hair growth in early-stage androgenetic alopecia.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
November 2025 in “Journal of Investigative Dermatology” Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
9 citations
,
March 1999 in “Der Hautarzt” Type 2 5α-reductase plays a key role in hair loss.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
14 citations
,
November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
September 2025 in “Journal of Dhaka Medical College” Lower vitamin D levels are linked to more severe alopecia areata.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
47 citations
,
September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
June 2021 in “The American Journal of the Medical Sciences” Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.
1 citations
,
October 2013 in “Our Dermatology Online” 5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
5 citations
,
July 2018 in “Pediatrics” A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
57 citations
,
November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
16 citations
,
June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
June 2019 in “Kufa journal for veterinary medical sciences” Vitamin C deficiency causes severe skin problems in newborn dairy calves.
26 citations
,
September 2005 in “Pharmacology Biochemistry and Behavior” 5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
35 citations
,
December 2014 in “Clinical and experimental dermatology” Oxidative stress may play a role in causing alopecia areata.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
February 2020 in “Definitions” 5 Alpha-Reductase Inhibitors reduce the effects of testosterone by blocking its conversion into a stronger form.
55 citations
,
March 1990 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride may treat baldness but less effective for those with 5α-reductase deficiency.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
July 2014 in “Urologia Journal” 5ARI treatment improves PSA test accuracy for prostate cancer diagnosis.
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.