22 citations,
August 2011 in “Endocrine Practice” Most hirsutism cases are due to PCOS, and treatment focuses on lowering testosterone and blocking its effects.
8 citations,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
5 citations,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
1 citations,
June 2023 in “Genes” Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
58 citations,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
32 citations,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
6 citations,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
May 2023 in “Journal of complementary medicine & alternative healthcare” Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
36 citations,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
13 citations,
August 2017 in “Scientific reports” Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
1 citations,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
7 citations,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
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.
February 2024 in “Curēus” Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
November 2016 in “Hair transplant forum international” The conclusion is that more research is needed to understand if the drug finasteride causes Post-Finasteride Syndrome or if it's due to individual genetic makeup.
148 citations,
December 2018 in “Journal of autoimmunity” Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.