5 citations,
April 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
13 citations,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
8 citations,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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.
4 citations,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
20 citations,
July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
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.
150 citations,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
9 citations,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
3 citations,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
49 citations,
January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
2 citations,
January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
24 citations,
May 2012 in “International Journal of Dermatology” The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
35 citations,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
April 2012 in “Encyclopedia of Life Sciences” Different genes are linked to various types of hair loss.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
5 citations,
January 2018 in “Springer eBooks” Acne in dark skin is influenced by environmental factors and can lead to hyperpigmentation, with various treatment options available.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
18 citations,
October 2016 in “Clinics in Dermatology” The document talks about hard-to-treat and rare acne types, their connection with other health issues, the importance of correct diagnosis, and the challenges in managing them.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
2 citations,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
26 citations,
March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
42 citations,
January 2006 in “Obstetrical & Gynecological Survey” The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.