29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
13 citations
,
July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
13 citations
,
December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
38 citations
,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” A new system helps better diagnose and treat female androgenization conditions like PCOS.
1 citations
,
September 2025 in “Cureus” ChatGPT-5 can pass the endocrinology exam but isn't fully reliable for clinical decisions yet.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
34 citations
,
September 2020 in “BMC Endocrine Disorders” Existing drug dexamethasone may lower death risk in severe COVID-19 cases; more research needed for other drugs.
1 citations
,
October 2018 in “InTech eBooks” Only minoxidil and finasteride are FDA-approved for hair loss, with other treatments available but less effective or with side effects.
19 citations
,
July 2013 in “The obstetrician & gynaecologist” The document concludes that careful evaluation is needed to diagnose PCOS correctly due to similar symptoms in other conditions, and accurate testosterone level measurement is crucial.
2 citations
,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
October 2023 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Hyperandrogenism increases heart disease risk in premenopausal women, but this risk is linked to obesity in postmenopausal women.
No single biomarker is reliable enough for diagnosing and assessing SLE.