3 citations
,
May 1990 in “Journal of Steroid Biochemistry” This study found that diagnosing non-classical 3 beta-hydroxysteroid dehydrogenase deficiency solely based on elevated serum or urinary 5-ene-steroids may not be reliable.
70 citations
,
April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
January 2026 in “MEDS Clinical Medicine” This review discusses the combined use of plum-blossom and Daoma needle therapy for androgenic alopecia, emphasizing its potential benefits and the need for further clinical research, but reports no new results.
65 citations
,
May 2010 in “Current Women's Health Reviews” This review discusses oxidative stress's role in polycystic ovary syndrome and examines various biomarkers to understand its impact on the disorder's pathogenesis, but reports no new clinical results.
59 citations
,
November 2018 in “Psychoneuroendocrinology” This study suggests that cerebrospinal fluid levels of the neurosteroids allopregnanolone and pregnanolone correlate negatively with PTSD and negative mood symptoms, with potential sex-specific differences in synthesis enzyme blocks.
42 citations
,
January 2006 in “Obstetrical & Gynecological Survey” This article discusses the importance of recognizing and distinguishing polycystic ovary syndrome from similar endocrine disorders, and reports no new clinical results.
14 citations
,
September 2015 in “Expert Opinion on Therapeutic Targets” This review discusses potential treatments for androgen excess in polycystic ovary syndrome and reports no new findings, emphasizing the importance of individualized antiandrogenic management to minimize side effects.
1 citations
,
March 2025 in “Medical Molecular Morphology” This review discusses how androgens, commonly known for male reproductive roles, also influence the physiology and pathology of the human endometrium, though their exact roles in this tissue remain controversial and not fully understood.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study suggests that the adrenal gland may contribute to prostate cancer treatment resistance and indicates potential steroid production or dependency in ovarian cancer.
This research focused on formulating finasteride, dutasteride, and minoxidil with cyclodextrins to enhance their solubility and skin penetration for topical use, potentially reducing scalp irritation from current alcohol-based preparations.
48 citations
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February 2013 in “Molecular and Cellular Endocrinology” This review discusses the presence of the StAR protein in 17 non-classical steroidogenic tissues, suggesting that advanced detection methods are needed for a complete understanding of its functions in these tissues.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
46 citations
,
August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
October 2024 in “Clinical Chemistry” In this study, physicians diagnosed a 3-year-old with scurvy due to severe vitamin C deficiency, influenced by a vegan diet and potential early-stage celiac disease; after treatment with vitamin C supplementation, her condition rapidly improved, highlighting the importance of dietary considerations in pediatric health.
April 2026 in “International Journal of Engineering Research and Science & Technology” This study introduced the Vitamin Deficiency Detection System, which helps users identify potential vitamin deficiencies by analyzing symptoms they select on a user-friendly interface.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
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.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
22 citations
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February 2004 in “Journal of pediatric gastroenterology and nutrition” This study found that nutritional deficiencies and gastrointestinal abnormalities are uncommon in children with ichthyosis and growth failure, suggesting chronic hypovolemia may be more prevalent in this group.
107 citations
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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.
37 citations
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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.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
1 citations
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August 2012 in “Pediatrics in review” This paper reviews various vitamin deficiencies, including vitamin D, and highlights their potential health impacts. It does not report new research findings but discusses current recommendations and risks associated with these deficiencies.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.