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.
62 citations
,
March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
56 citations
,
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.
35 citations
,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” This article discusses various causes of hyperandrogenism in women and highlights diagnostic considerations for conditions such as PCOS, NCCAH, Cushing's disease, and androgen-secreting tumors, without reporting new clinical results.
31 citations
,
November 2014 in “Journal of Endocrinological Investigation” This article reviews androgen excess and cardiometabolic risks in women, highlighting increased cardiovascular disease risk in those with polycystic ovary syndrome, 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.
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.
14 citations
,
January 2012 in “Endocrine development” This article reviews the challenges in diagnosing mild hyperandrogenism in adolescent girls, discussing potential causes like PCOS and treatment options, but reports no new clinical results.
13 citations
,
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.
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.
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.
2 citations
,
January 2005 in “The Japanese Journal of Veterinary Dermatology” In this study, Pomeranians with non-illness, generalized alopecia did not exhibit adrenal or pituitary abnormalities, suggesting a breed-specific hormonal pattern as a potential cause rather than a functional adrenal anomaly.
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.
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.
January 2019 in “Springer eBooks” Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
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.
4809 citations
,
January 2004 in “Fertility and Sterility” This review discusses polycystic ovary syndrome, emphasizing its broad range of manifestations and associations with risks like type 2 diabetes and cardiovascular events, but reports no new clinical results.
4025 citations
,
December 2003 in “Human Reproduction” This review discusses the evolution of diagnostic criteria for polycystic ovary syndrome and emphasizes its association with various metabolic and cardiovascular risks, but it provides no new research findings.
1265 citations
,
October 2013 in “The Journal of Clinical Endocrinology and Metabolism” This guideline from the Endocrine Society recommends using the Rotterdam criteria for diagnosing polycystic ovary syndrome and outlines first-line treatments, emphasizing hormonal contraceptives and lifestyle intervention.
989 citations
,
August 2007 in “The Lancet” This article reviews the clinical features, diagnostic criteria, and possible genetic and environmental influences of polycystic ovary syndrome but provides no new research findings.
947 citations
,
February 2004 in “The Journal of Clinical Endocrinology and Metabolism” In this study, polycystic ovary syndrome was the most prevalent cause of androgen excess, and suppressive hormonal therapy improved hirsutism, menstrual dysfunction, and acne in most patients, though side effects were common.
467 citations
,
October 2014 in “European Journal of Endocrinology” This paper reviews the diagnostic criteria, etiological factors, and treatment approaches for PCOS, highlighting the importance of considering metabolic issues such as insulin resistance and obesity, but reports no new findings.
441 citations
,
May 2008 in “British Journal of Pharmacology” This article reviews the potential clinical use of anabolic steroids in treating muscle loss from chronic diseases and aging and highlights both the benefits and risks of these substances in sports.
403 citations
,
November 2005 in “Journal of Endocrinology” This review discusses the role of DHEA in intracrinology, highlighting its impact on breast and prostate cancer treatment and potential as a menopause therapy, but reports no new research findings.
343 citations
,
October 2015 in “Endocrine Practice” This review discusses the diagnostic criteria and management strategies for Polycystic Ovary Syndrome (PCOS) and highlights the need for comprehensive clinical assessment, but does not report new clinical findings.
288 citations
,
June 2009 in “Human reproduction update” This review examines various methods for assessing hair growth in women, highlighting the usefulness of the mFG visual scoring method for diagnosing hirsutism despite its limitations.
282 citations
,
October 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses guidelines for androgen use in women and concludes that more research is needed before recommending testosterone due to insufficient evidence on safety and efficacy.
87 citations
,
March 2000 in “American Journal of Clinical Dermatology” Alpha-hydroxy acids, like glycolic acid, safely improve skin issues and work on all skin types.