46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
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.
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.
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.
5 citations
,
January 2017 in “Endocrinology” This chapter reviews the biosynthesis, mechanism of action, and therapeutic effects of testosterone and related androgens, but reports no new research findings.
December 2016 in “Journal of Pakistan Association of Dermatologists” This case study describes a 22-year-old woman with hirsutism who experienced symptom reversal through addressing nonclassical adrenal hyperplasia and polycystic ovaries alongside laser hair removal.
13 citations
,
July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
7 citations
,
December 2011 in “InTech eBooks” This review discusses current and evolving treatment strategies for congenital adrenal hyperplasia in adolescents and adults, focusing on glucocorticoid and mineralocorticoid therapy and the management of insulin resistance, without reporting new clinical results.
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.
April 2017 in “Turkish Journal of Pediatric Disease” This study found that 20% of children initially diagnosed with premature pubarche were later identified with other conditions like central puberty precox or congenital adrenal hyperplasia during follow-up, emphasizing the importance of ongoing differential diagnosis.
This study found that 20% of children initially diagnosed with premature pubarche were later identified with different clinical conditions during follow-up, highlighting the need for careful differential diagnosis over time.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
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.
29 citations
,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses factors affecting fertility in both men and women with congenital adrenal hyperplasia and emphasizes individualized preconception management but reports no new clinical results.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
February 2025 in “Cureus” This case report describes a 37-year-old female with non-classical congenital adrenal hyperplasia who presented with severe acne, progressive hair loss, and primary infertility, managed with prednisolone.
13 citations
,
January 2020 in “Scientific Reports” This study found distinct differences in protein expression and wound healing pathways between Acomys cahirinus and Mus musculus, highlighting potential targets for reducing fibrotic response in mammals.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” This study developed a detailed classification system for functional androgenization in females that may enhance diagnosis and personalized treatment by identifying individual dysfunctions.
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.
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.
48 citations
,
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.
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.
11 citations
,
January 2016 in “The Journal of Sexual Medicine” This study found that young women with nonclassic congenital adrenal hyperplasia had impaired sexual function and mild depressive symptoms compared to healthy women.
5 citations
,
September 2012 in “BMJ case reports” This case study reports that a woman with non-classical adrenal hyperplasia who self-treated with Ashwagandha for six months experienced biochemical improvements and reduced scalp hair loss.
14 citations
,
January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
7 citations
,
January 2025 in “Archives of Gynecology and Obstetrics” In this review, the authors aim to improve the differential diagnosis between hyperandrogenic PCOS and NCAH, which could lead to more personalized treatment strategies for patients experiencing hyperandrogenism.
July 1996 in “Trends in Endocrinology and Metabolism” The book is a valuable reference on androgenic disorders for professionals but not suitable for laypeople or medical students.
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.