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.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
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.
414 citations
,
August 2005 in “The Journal of Clinical Endocrinology and Metabolism” This study estimates the total cost of evaluating and treating polycystic ovary syndrome in reproductive-aged women in the United States to be $4.36 billion, suggesting more liberal screening could be beneficial.
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.
195 citations
,
February 2007 in “The Journal of Clinical Endocrinology and Metabolism” In this study, administering 5alpha-reductase inhibitors reduced dihydrotestosterone levels and was associated with mild, reversible decreases in semen parameters in healthy men.
192 citations
,
September 2003 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study suggests that metformin may be more effective than Dianette in treating moderate to severe hirsutism in women with PCOS, while also reducing markers of insulin resistance.
165 citations
,
December 2002 in “Molecular and Cellular Endocrinology” This study found that finasteride improves scalp hair growth in men with male pattern hair loss by reducing scalp dihydrotestosterone levels, but it did not benefit postmenopausal women with female pattern hair loss.
150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
150 citations
,
February 2008 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study suggests that antiandrogens may slightly reduce hirsutism severity compared to placebo, but evidence is weak and their relative efficacy remains uncertain.
121 citations
,
April 2008 in “The Journal of Clinical Endocrinology & Metabolism” Insulin sensitizers may slightly reduce hirsutism but are less effective than other treatments.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
110 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Dihydrotestosterone gel improved well-being and sexual function in older men without negatively affecting prostate health.
105 citations
,
February 2011 in “The Journal of Clinical Endocrinology & Metabolism” Treating sleep apnea in young obese women with PCOS can improve heart health and insulin sensitivity.
104 citations
,
March 2014 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, DHT and calculated free DHT were linked to higher risks of incident cardiovascular disease and all-cause mortality in elderly men, while total testosterone and calculated free testosterone showed no such associations.
96 citations
,
February 2007 in “The Journal of Clinical Endocrinology & Metabolism” This review discusses the high prevalence of androgen excess and PCOS in women with type 1 diabetes but reports no new clinical findings; the authors highlight the underdiagnosis of hyperandrogenism in these patients.
90 citations
,
February 2013 in “The Journal of Clinical Endocrinology and Metabolism” This study found that women with polycystic ovary syndrome have higher global adiposity and increased visceral fat, particularly in the ip and mesenteric depots, compared to women without androgen excess.
70 citations
,
January 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study explored the interaction between androgen and Wnt signaling in dermal papilla cells, targeting the effects of androgen on hair growth reduction.
65 citations
,
January 2011 in “Frontiers in Endocrinology” This review summarizes the role of neurosteroids in seizure disorders and highlights the potential of neurosteroid replacement therapy in epilepsy but presents no new clinical findings.
57 citations
,
May 1986 in “Clinics in endocrinology and metabolism” This review found that women with idiopathic hirsutism may have increased 5α-reductase activity, as indicated by elevated levels of a dihydrotestosterone-reduced metabolite, but more research is needed to confirm its clinical relevance as a biomarker.
56 citations
,
July 2008 in “European journal of endocrinology” This study found that a 6-month treatment with either metformin or rosiglitazone significantly improved endothelial function in young women with PCOS without any one drug being superior.
53 citations
,
February 2022 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This review discusses the use of antimüllerian hormone as a marker of ovarian reserve in infertility diagnosis and treatment, noting it reflects oocyte quantity but not health or pregnancy likelihood.
50 citations
,
September 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found no evidence of androgen deficiency or decreased peripheral androgen action in men with persistent sexual symptoms after finasteride use, but identified links to depressed mood and abnormal brain function.
50 citations
,
March 2011 in “European Journal of Endocrinology” This study found that spironolactone treatment can normalize endothelial function and improve cholesterol levels in non-obese patients with polycystic ovary syndrome.
49 citations
,
February 2019 in “The Journal of Clinical Endocrinology and Metabolism” This review offers evidence-based recommendations for diagnosing and treating female pattern hair loss, emphasizing clinical assessment and starting treatment with minoxidil, while noting that measurement of certain hormones and vitamins is optional.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
46 citations
,
December 2001 in “Journal of Endocrinology/Journal of endocrinology” This study found that mouse FLRG protein, a secreted glycoprotein, is expressed in certain tissues and plays a role distinct from follistatin during wound healing, suggesting different functions in vivo.
40 citations
,
September 2019 in “Molecular and Cellular Endocrinology” This paper discusses mechanisms by which various chemicals disrupt male sexual differentiation, concluding that mixture risk assessments should include a broader set of compounds beyond phthalates to address cumulative reproductive health risks.
40 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that daughters of women with PCOS may have altered androgen metabolism in early childhood, with increased 5α-reductase activity potentially contributing to PCOS development.
40 citations
,
April 2008 in “European journal of endocrinology” In this study, treatment with insulin sensitizers significantly increased adipose tissue GLUT4 mRNA expression and improved insulin resistance, menstrual patterns, and androgen profiles in PCOS patients, with rosiglitazone being more effective than metformin.