31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” This study concluded that heterozygosity for CYP21 mutations is associated with higher mean and free testosterone levels in women but does not significantly increase their risk of developing clinically evident hyperandrogenism.
5 citations
,
May 2019 in “Hormone and Metabolic Research” This study reported that in embryo transfer cycles for women with nonclassic 21-hydroxylase deficiency, dexamethasone use was associated with improved pregnancy rates, and maintaining a BMI below 23.36 kg/m² increased pregnancy probabilities.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
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.
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.
November 2022 in “Journal of the Endocrine Society” In this case study, a woman with high 25(OH)D levels and persistent symptoms showed decreased parathormone after transdermal estrogen therapy, highlighting the importance of assessing both parathormone and estrogen levels in similar patients.
38 citations
,
June 2005 in “Matrix Biology” Minoxidil affects collagen-related genes, potentially helping treat fibrosis.
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.
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.
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.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
49 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” This study reports the first case of ovarian mature cystic teratoma linked to clinical virilization due to ectopic testosterone production, possibly from overexpression of the enzyme HSD17B5.
April 2020 in “Journal of the Endocrine Society” This case report describes a rare occurrence of giant bilateral adrenal myelolipomas in a 28-year-old female with CAH, emphasizing that large, hormonally active, or painful myelolipomas should be surgically removed.
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.
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.
2 citations
,
October 2022 in “Frontiers in genetics” This case report describes a 46-year-old Italian woman with congenital adrenal hyperplasia who experienced significant improvements in physical and psychological health after receiving a delayed diagnosis and subsequent treatment.
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.
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.
46 citations
,
July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
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.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
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.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.
4 citations
,
January 1989 in “Journal of Steroid Biochemistry” This study suggests that 5-ADIOL-S may contribute to the synthesis of potent androgens in peripheral tissues, and 3 alpha-DIOL-S could be a marker of androgen metabolism in various female patient groups.
40 citations
,
June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study revealed that deficiency in the enzyme FA2H in mice affected sebaceous gland function, altered sebum composition, and caused cycling alopecia, highlighting FA2H's role in hair follicle homeostasis.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
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.
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.