1 citations,
July 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
May 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
5 citations,
July 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.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
20 citations,
July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
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.
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.
71 citations,
March 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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.
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.
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.
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.
January 2019 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
70 citations,
May 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
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.
94 citations,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
45 citations,
January 2006 in “Endocrine journal” To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
41 citations,
April 2010 in “Gender Medicine” The conclusion is that hirsutism should be diagnosed and treated because it affects quality of life and may signal other health problems.
40 citations,
July 2017 in “Frontiers in Medicine” Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
33 citations,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
31 citations,
November 2014 in “Journal of Endocrinological Investigation” Women with androgen excess, especially those with PCOS, have a much higher risk of heart disease and stroke.
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.
16 citations,
December 2006 in “Expert Review of Dermatology” Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
2 citations,
January 2013 in “Elsevier eBooks” The chapter explains the causes of excessive hair growth and masculinization in women and how to measure hormone levels related to these conditions.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.