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.
43 citations,
October 2019 in “Pediatric Research” Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
8 citations,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
September 1983 in “Journal of The American Academy of Dermatology” Experts discussed hair care, genetic hair defects, hair loss treatments, nail surgery, lupus treatments, skin infections, and cosmetic allergies.
11 citations,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
1 citations,
January 2015 in “Springer eBooks” AGA is a common hair loss disorder, and early diagnosis and treatment with minoxidil or finasteride can help reduce emotional distress.
9 citations,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
9 citations,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
20 citations,
July 2009 in “Journal of Pediatric and Adolescent Gynecology” Quick treatment of hair disorders in teenage girls is important because of the emotional effects.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations,
October 2013 in “Expert Review of Dermatology” Diagnosing alopecia areata is challenging and requires careful examination and various tests to distinguish it from other hair loss types.
70 citations,
January 2000 in “Hormone Research in Paediatrics” SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
30 citations,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
308 citations,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
12 citations,
January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
November 2005 in “Hair transplant forum international” Genetic differences in hair loss can help improve diagnosis and treatment.