June 2026 in “Quality in Sport” This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.
2 citations
,
January 2017 in “Case reports in endocrinology” This report describes an elderly woman whose nonclassic 11-hydroxylase deficiency, presenting as acne and male pattern alopecia, may have been ameliorated by Ashwagandha root in a dose-related manner.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
55 citations
,
March 1990 in “The Journal of Clinical Endocrinology and Metabolism” This study found that finasteride decreased plasma dihydrotestosterone levels and altered steroid metabolism, similar to the profile of male pseudohermaphrodites with inherited 5a-reductase deficiency.
26 citations
,
March 2009 in “Dermato-endocrinology” This review discusses the evaluation, clinical presentation, and cutaneous manifestations of congenital adrenal hyperplasia, focusing on differential diagnosis challenges with polycystic ovary syndrome, and reports no new clinical findings.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
13 citations
,
December 2012 in “Frontiers in bioscience” This review discusses the potential role of vitamin D deficiency in cardiovascular and renal diseases and suggests that supplemental vitamin D could benefit cardiovascular outcomes, especially in African American and postmenopausal women; it reports no new clinical findings.
November 2024 in “Frontiers in Endocrinology” This study used a novel extraction method to detect and measure mineralocorticoids and glucocorticoids in hair follicles, concluding these steroids may serve as effective biomarkers for diagnosing conditions related to steroid excess or deficiency, such as Cushing’s syndrome and congenital adrenal hyperplasia.
10 citations
,
February 2021 in “PLoS biology” This study found that corin, a protease, plays a crucial role in eccrine sweat glands by promoting sweat and salt excretion, which helps regulate electrolyte balance.
13 citations
,
August 1997 in “Steroids” Finasteride effectively lowers specific hormone levels, helping monitor treatment progress.
94 citations
,
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.
31 citations
,
January 2017 in “Advances in Experimental Medicine and Biology” This review discusses the negative health impacts of testosterone deficiency and the potential adverse effects of 5α-reductase inhibitors, emphasizing the need for patient-physician discussions regarding these treatments.
14 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” This review discusses the fertility and pregnancy challenges faced by women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new research findings.
February 2026 in “Frontiers in Endocrinology” In this case study, a woman with congenital adrenal hyperplasia experienced substantial improvement in musculoskeletal and neurobehavioral symptoms after low-dose testosterone therapy, highlighting its potential role in managing chronic glucocorticoid overtreatment effects.
September 2021 in “Research Square (Research Square)” This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.
45 citations
,
November 2009 in “British Journal of Dermatology” This study found that women with early-onset androgenetic alopecia had higher aldosterone levels and blood pressure, suggesting a possible link to the increased prevalence of hypertension in this group.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
8 citations
,
January 1991 in “European Urology” This study found that the 5α-steroid metabolite profile in men with inherited 5α-reductase deficiency is similar to those taking the drug finasteride, suggesting the gene affects multiple steroid substrates.
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.
Among females with nonclassical 21-hydroxylase deficiency, this study found that low-dose glucocorticoid treatment improved fertility outcomes by increasing pregnancy and live birth rates while reducing miscarriage rates.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.
150 citations
,
April 2013 in “Dermato-endocrinology” This review discusses the effects of estrogen on skin aging and highlights potential therapies, but reports no new clinical findings.
2 citations
,
January 2006 in “Durham e-Theses (Durham University)” This study found that solid-state NMR combined with X-ray techniques provided critical insights into the structure and solvation of finasteride polymorphs, identifying gaps in existing patent characterizations.
38 citations
,
January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
55 citations
,
January 2007 in “Climacteric” This paper reviews guidelines discussed at a meeting about research and practice themes, but reports no new research findings.
6 citations
,
May 2016 in “Urolithiasis” This study found that the risk of urinary stone disease increased significantly in patients with severe androgenetic alopecia, and that testosterone deficiency was more frequent among these patients.
2 citations
,
October 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.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.