94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
January 2019 in “Egyptian Journal of Dermatology and Venereology /Egyptian Journal of Dermatology and Venerology” This study found that patients with alopecia areata had significantly lower serum 25(OH)D levels, which may be associated with increased disease severity.
September 2025 in “Journal of Dhaka Medical College” This study found that patients with alopecia areata had significantly lower serum 25-Hydroxy vitamin D levels compared to healthy controls, and observed a significant inverse relationship between vitamin D levels and disease severity.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.
95 citations
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July 2006 in “British Journal of Dermatology” This study observed that vitamin D receptor expression in certain hair follicle cells varies throughout the murine hair cycle, suggesting a potential role for 1,25-dihydroxyvitamin D3 in hair follicle biology.
September 2023 in “Diagnostics” In this study, researchers found a significant relationship between mid-luteal progesterone levels and 25-hydroxy vitamin D levels in infertile patients, suggesting that about 20 ng/mL of vitamin D may be necessary to trigger ovulation or support progesterone secretion.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
1 citations
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January 1998 in “International journal of cancer” In this mouse study, topical 1,25-dihydroxyvitamin D3 protected against cyclophosphamide-induced hair loss and inhibited mammary tumor growth, with effects varying by sex and tumor presence.
7 citations
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April 2019 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 11α-hydroxyprogesterone is a potent inhibitor of 11βHSD2 in vitro and may serve as a precursor to unique C11α-hydroxy steroids in prostate cancer tissue.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
January 2025 in “Scientific Reports” This study explored 25-hydroxyvitamin D3 levels in hair samples from participants in Aberdeen and suggested potential links between hair vitamin D levels, seasonal UVB exposure, and marine diet in both modern and archaeological contexts.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
96 citations
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August 1995 in “Bone” This article reviews the essential role of vitamin D in bone health and its various clinical applications but reports no new clinical findings.
5 citations
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June 2020 in “Experimental dermatology” This study found that redheaded individuals had higher levels of vitamin D precursor 25(OH)D3 compared to non-redheaded individuals, suggesting a physiological adaptation to low UVB radiation in Europe.
36 citations
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February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that vitamin D receptor activation in primary keratinocytes can occur independently of the 1,25-dihydroxyvitamin D3 ligand, likely through interaction with retinoid X receptors.
November 2023 in “Journal of Cosmetic Dermatology” This study found that patients with non-scarring alopecia, such as androgenetic alopecia and female pattern hair loss, have lower serum levels of 25-hydroxyvitamin D and a higher incidence of vitamin D deficiency compared to healthy controls.
354 citations
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August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
4 citations
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April 2020 in “Journal of Cosmetic Dermatology” This study found that Chinese patients with alopecia areata, female pattern hair loss, and male androgenetic alopecia had significantly lower serum vitamin D levels than healthy individuals.
2 citations
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September 2021 In this study, serum 25-hydroxyvitamin D levels were similar between alopecia areata patients and healthy controls, though a non-significant trend toward higher vitamin D deficiency was observed among the patients.
This study found that DNA damage in obese women was linked to serum 25-hydroxyvitamin D and hair chromium levels, with higher serum vitamin D associated with less damage and higher chromium with more damage.
This study found a significant association between lower vitamin D levels and increased severity of androgenetic alopecia in men.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
19 citations
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August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
7 citations
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July 2001 in “Endocrinology” This study observed that knocking out the 1α-hydroxylase gene in mice resulted in rickets and growth retardation, demonstrating the enzyme's crucial role in vitamin D function in animals.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
11 citations
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June 1979 in “British Journal of Dermatology” This study found that the dehydroepiandrosterone hydroxylating enzyme system in hair follicles is similar to the liver monooxygenase system, sharing characteristics such as inhibition by carbon monoxide and dependency on NADPH.