31 citations
,
September 2003 in “International Journal of Dermatology” This report describes two Saudi brothers with Vitamin D-dependent rickets Type II and emphasizes the association of this disorder with alopecia.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
37 citations
,
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.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
12 citations
,
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.
36 citations
,
January 2017 in “Journal of Obstetrics and Gynaecology Research” This review discusses the association between vitamin D receptor polymorphisms and polycystic ovary syndrome, noting the need for further research on their impact on the disorder's manifestations.
16 citations
,
March 2015 in “Wiener Klinische Wochenschrift” Vitamin D deficiency is common in women with PCOS and linked to some metabolic problems, but not the main cause of their metabolic issues.
This study observed that women with PCOS have a higher likelihood of vitamin D deficiency, particularly if they are obese, compared to women without PCOS.
100 citations
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October 1986 in “Clinical Endocrinology” This study found that alopecia in hereditary resistance to 1,25(OH)2D may indicate a more severe form of the condition, associated with earlier diagnosis and different responses to calciferol therapy.
17 citations
,
July 2015 in “Biomolecules and Biomedicine” This study found that women with PCOS had higher levels of Nesfatin-1 and lower levels of vitamin D, which may be linked to increased blood pressure and potential hypertension.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
6 citations
,
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.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
88 citations
,
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.
25 citations
,
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.
20 citations
,
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.
29 citations
,
January 2003 in “KARGER eBooks” In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.
December 2024 in “International Journal of Advanced Research” In this study, the authors concluded that metformin and vitamin D are important for managing PCOS by improving insulin resistance and hormonal imbalances, especially in women with a BMI of 25 kg/m² or higher.
55 citations
,
May 1985 in “Archives of Dermatology” This study found that alopecia in four children was linked to severe calcitriol-resistant rickets, suggesting this condition should be considered among inherited hair growth disorders.
11 citations
,
May 1985 in “Archives of Dermatology” This study found that calcitriol-resistant rickets is associated with alopecia in children and should be considered in the differential diagnosis of hair loss.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
37 citations
,
August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.
January 2019 in “Egyptian Journal of Obesity, Diabetes and Endocrinology” This study observed that women with PCOS had significantly lower serum vitamin D levels, which were associated with insulin resistance and other metabolic and hormonal imbalances.
24 citations
,
July 1987 in “Dermatologic Clinics” This article reviews various causes of hair loss linked to systemic factors, noting that careful history and examination can lead to accurate diagnosis, but reports no new clinical results.
4 citations
,
January 2017 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” In this study, alopecia areata was identified as the most common cause of hair loss in children, with histopathological findings similar to those in adults.
1 citations
,
April 2021 in “Deneysel ve klinik tıp dergisi/Journal of experimental and clinical medicine” This study found that women with polycystic ovary syndrome in the Black Sea Region had higher levels of androgens, obesity, and insulin resistance, increasing their risk of metabolic syndrome compared to healthy women.