February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
47 citations
,
January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
20 citations
,
October 2005 in “Archives of Dermatological Research”
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
37 citations
,
October 2024 in “JAMA Network Open” PCOS is common among Indian women, often with metabolic issues, needing better management strategies.
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.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
9 citations
,
February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
23 citations
,
April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
33 citations
,
September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
4 citations
,
September 2018 in “Journal of Drug Delivery and Therapeutics” PCOS is a common hormonal disorder in women linked to several health risks and can be managed through various treatments.
16 citations
,
November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
July 2023 in “International Journal of Rheumatic Diseases” Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
10 citations
,
January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.