This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
32 citations
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June 2019 in “Frontiers in Endocrinology” This review discusses the overlapping clinical features and diagnostic challenges of non-classic adrenal hyperplasia and polycystic ovary syndrome without presenting original research findings.
7 citations
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April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The authors concluded that plasma levels of 3α-diolG, ADTG, and DHTG in women with hyperandrogenic disorders primarily reflect adrenal androgen contributions rather than peripheral action, suggesting a potential index for treatment effectiveness.
2 citations
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September 2019 in “Acta Cardiologica” This study found that premenopausal women with non-classic congenital adrenal hyperplasia may have increased cardiometabolic risk compared to healthy women.
1 citations
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November 2022 in “Journal of the Endocrine Society” This study found that US adults with classic congenital adrenal hyperplasia most preferred a hypothetical adjunctive therapy that prevents glucocorticoid-induced weight gain over other potential benefits.
7 citations
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January 2016 in “Experimental and Clinical Endocrinology & Diabetes” This study observed that adding simvastatin to ongoing metformin treatment reduced certain androgen levels in women with non-classic congenital adrenal hyperplasia and abnormal glucose metabolism, suggesting a potential therapeutic benefit.
13 citations
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May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
11 citations
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January 2013 in “Indian Journal of Endocrinology and Metabolism” This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.
3 citations
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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.
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.
1 citations
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August 2015 in “PubMed” This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.
October 2024 in “Journal of the Endocrine Society” This case report describes a patient with an ovarian steroid cell tumor that initially presented as non-classical adrenal hyperplasia, emphasizing the difficulty in differential diagnosis with hyperandrogenism and the importance of close clinical monitoring.
9 citations
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February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” This study found that children with classic congenital adrenal hyperplasia had elevated epicardial fat thickness, which was associated with increased carotid intima media thickness, left ventricular mass, and mitral deceleration time.
5 citations
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June 2020 in “Journal of Endocrinological Investigation” The study observed that women with congenital adrenal hyperplasia experience more impaired sexual functions and are more often homosexually or bisexually oriented than those with polycystic ovary syndrome.
56 citations
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December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
1 citations
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January 2015 in “Case reports in endocrinology” This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.
11 citations
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August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
7 citations
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May 2014 in “Iranian Red Crescent medical journal” This case study describes a 17-year-old female with severe hirsutism diagnosed with PCOS, NC-CAH, and HAIR-AN syndrome who was successfully treated based on her specific underlying conditions.
26 citations
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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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
70 citations
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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.
October 2024 in “Journal of the Endocrine Society” This case report highlights the challenge of differentiating between non-classical adrenal hyperplasia and steroid cell tumors of the ovary in a patient presenting with hyperandrogenism.
42 citations
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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.
In this report, a 22-year-old woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent treatment with hydrocortisone and spironolactone, followed by feminization surgery, which subsequently led to the development of secondary sexual characteristics and regular menstruation.
7 citations
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January 2013 in “Hormone Research in Paediatrics” This case report describes an adult female with congenital adrenal hyperplasia who developed secondary amenorrhea and hair loss due to androgen overproduction from ovarian adrenal rests, detectable only after pelvic venous sampling, and normalizing after unilateral oophorectomy.