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.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
9 citations
,
June 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” Blood AMH levels are higher in women with PCOS than in those with other similar conditions.
5 citations
,
April 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” This study concluded that antimullerian hormone levels are not generally effective for distinguishing late onset congenital adrenal hyperplasia from all hyperandrogenic polycystic ovary syndrome subtypes, except one specific subtype.
October 2024 in “Journal of the Endocrine Society” This case study describes three young females with hirsutism who were diagnosed with different underlying conditions—late-onset congenital adrenal hyperplasia, idiopathic hirsutism, and polycystic ovary syndrome with ovarian thecosis—highlighting the need for reevaluation if initial treatments are ineffective.
September 1997 in “Journal of the European Academy of Dermatology and Venereology” Hirsute women with ovarian-sourced hirsutism are more likely to have irregular periods, with higher BMI and altered hormone ratios.
3 citations
,
January 2019 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This study found that idiopathic hirsutism was the most common cause of hirsutism among patients, and insulin resistance was significant in those with Hyperandrogenic Insulin Resistant Acanthosis Nigricans Syndrome.
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.
24 citations
,
March 1996 in “Postgraduate Medical Journal” In this study, most women with hirsutism and regular menstrual cycles were diagnosed with polycystic ovary syndrome, suggesting limited use of the term 'idiopathic or racial' hirsutism without thorough evaluation.
3 citations
,
March 1992 in “Journal of clinical pathology” This review discusses the clinical evaluation and investigation needed for hirsute women, suggesting that most cases require minimal testing unless virilism or severe symptoms are present; no new clinical results are provided.
October 2024 in “Journal of the Endocrine Society” This report describes varied causes of hirsutism in young females and highlights the need to revise diagnoses if initial treatments for common etiologies like PCOS do not yield results.
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.
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.
5 citations
,
December 2004 in “Dermatology” This review describes two cases of young women with primary amenorrhea and hyperandrogenemia, suggesting that adrenal tumors should be considered in patients with significantly elevated circulating testosterone levels.
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.
67 citations
,
September 2008 in “Dermatologic therapy” This paper reviews causes of hirsutism in women and emphasizes the importance of identifying underlying conditions for risk assessment, though it reports no new clinical findings.
August 2010 in “Journal of Investigative Dermatology” New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.
4 citations
,
March 2012 in “Our Dermatology Online” This study conducted physical examinations on fifty women with hirsutism, focusing on virilization signs, but reports no new clinical findings.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.
42 citations
,
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.
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.
3 citations
,
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.
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.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
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.
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.
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.
2 citations
,
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
,
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.
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.