April 2019 in “Journal of the Endocrine Society” This case report suggests that a supplement containing biotin, beta carotene, vitamin C, zinc, and copper may improve insulin resistance markers and hair loss in a patient with non-classic 11-hydroxylase deficiency.
October 2020 in “Journal of the American Society of Nephrology” In this case study, drospirenone use masked the diagnosis of a rare form of congenital adrenal hyperplasia, suggesting a possible delay in detecting underlying endocrinopathies.
41 citations
,
January 2000 in “Hormone Research in Paediatrics” In this case study, a 55-year-old woman with androgenetic alopecia was ultimately diagnosed with hepatic cortisone reductase deficiency after initially suspected 21-hydroxylase deficiency was ruled out.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
5 citations
,
March 2013 in “BMJ case reports” This case report suggests that Roux-en-Y gastric bypass may improve symptoms of non-classic adrenal hyperplasia related to 11-hydroxylase deficiency by reducing insulin resistance.
2 citations
,
November 2024 in “JCEM Case Reports” This study describes a case of a 35-year-old woman who developed symptoms of hyperandrogenism and disrupted steroidogenesis due to chronic use of electronic cigarettes containing compounds similar to etomidate, despite no genetic mutation indicating 11β-hydroxylase deficiency.
150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
10 citations
,
August 2022 in “International Journal of Molecular Sciences” This review discusses mechanisms of wound healing impairment in leptin-deficient murine models used for diabetic research, and reports no new clinical results; the authors emphasize the need for further study.
1540 citations
,
October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
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.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
4 citations
,
December 2022 in “Frontiers in Endocrinology” This review discusses various treatment options for non-classic congenital adrenal hyperplasia due to 21α-hydroxylase and 11β-hydroxylase deficiencies without providing new clinical results.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
7 citations
,
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.
April 2026 in “Inflammopharmacology” This study found that Punica granatum ethanolic leaf extract may alleviate skin fibrosis in rats by modulating inflammation-related pathways and reducing dermal alterations.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” This review discusses clinical, hormonal, and genetic aspects of nonclassic adrenal hyperplasia and reports no new findings; the condition is highlighted as a potential cause of premature adrenarche and other symptoms in young people.
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.
42 citations
,
April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
22 citations
,
December 2017 in “International Journal of Molecular Sciences” This study found that millimolar concentrations of minoxidil in the skin induced VEGF production through HIF-1 stabilization by inhibiting PHD-2, implying a molecular mechanism for hair growth promotion.
December 2025 in “Frontiers in Immunology” This review highlights that disturbances in neuroimmune communication, particularly between sympathetic nerves and macrophages, may contribute to autoimmune diseases like rheumatoid arthritis and type 1 diabetes, and suggests potential therapeutic avenues by restoring this communication in preclinical and early clinical studies.
188 citations
,
January 2022 in “PubMed” This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.
May 2026 in “Nature Communications” In this study, researchers identified that keloid fibroblasts respond to neurotransmitters from catecholaminergic nerves by producing bone matrix proteins, mediated by β1-adrenergic receptor activation, leading to fibro-osseous reprogramming; blocking this signaling in a rodent model prevented the development of keloid-like pathology.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
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.
This article reviews the role of hormones in human penis development and associated conditions due to hormonal imbalances, but reports no new findings, suggesting hormone replacement can manage some conditions.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.