September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
[object Object] 7 citations,
January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
[object Object] 39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
9 citations,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
2 citations,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
8 citations,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
42 citations,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
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.
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.
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.
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.
14 citations,
January 2013 in “Indian Journal of Endocrinology and Metabolism” Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
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.
7 citations,
January 2016 in “Experimental and Clinical Endocrinology & Diabetes” Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
2 citations,
September 2019 in “Acta Cardiologica” Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
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.
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.
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.
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.