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.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
11 citations,
August 2019 in “PubMed” Hirsutism in women is mostly caused by polycystic ovary syndrome and idiopathic hyperandrogenism.
10 citations,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
1 citations,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
September 2024 in “Pediatrics in Review” Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
November 2022 in “The Journal of Clinical Endocrinology and Metabolism” Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
January 2013 in “Obstetrical & gynecological survey” Most women with hirsutism have normal hormone levels and can be treated with cosmetic methods; obesity and PCOS are common causes, and treatments depend on the underlying issue.