25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
2 citations,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations,
February 2017 in “Journal of gynecology and womens health” The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
April 2023 in “Andrologia” American men are older, more obese, and have longer infertility than Canadian men.
39 citations,
June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
January 2020 in “Proyecto de investigación:” Longer anogenital distance may indicate a higher chance of having polycystic ovary syndrome, and measuring this distance along with hormone levels could improve diagnosis.
991 citations,
January 2011 in “Nature Reviews Endocrinology” The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
258 citations,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
32 citations,
February 2017 in “Human Reproduction” Women with polycystic ovary syndrome tend to have a longer anogenital distance.
25 citations,
June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
6 citations,
October 2018 in “Endocrinology” Prenatally androgenized ewes can model increased hair diameter in women with PCOS.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations,
March 2011 in “Infertility” The conclusion is that lifestyle changes and weight loss are first-line treatments for infertility due to anovulation, with various medications and assisted reproductive technologies as additional options.
1265 citations,
October 2013 in “The Journal of Clinical Endocrinology and Metabolism” The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
44 citations,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
26 citations,
November 2011 in “Arquivos Brasileiros De Endocrinologia E Metabologia” Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
87 citations,
July 2012 in “Expert Review of Clinical Immunology” Pregnancy can increase lupus activity, but careful planning and treatment can improve outcomes.
12 citations,
March 2015 in “Pediatric Dermatology” Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
May 2010 in “Current Women's Health Reviews” The document concludes that early diagnosis and treatment of PCOS in teenagers is important for managing symptoms and preventing long-term health problems.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.