53 citations,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
46 citations,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
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.
22 citations,
August 2011 in “Endocrine Practice” Most hirsutism cases are due to PCOS, and treatment focuses on lowering testosterone and blocking its effects.
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.
May 2023 in “Frontiers in Endocrinology” Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
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.
42 citations,
October 2004 in “Experimental and Clinical Endocrinology & Diabetes” The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
35 citations,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
5 citations,
January 2018 in “Springer eBooks” Acne in dark skin is influenced by environmental factors and can lead to hyperpigmentation, with various treatment options available.
5 citations,
April 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
1 citations,
June 2021 in “Journal of Endocrinological Investigation” Possible endocrine disorders caused woman's hair loss and obesity in painting.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
October 2024 in “Journal of the Endocrine Society” The case highlights the complexity of diagnosing high testosterone in older women and the need for thorough testing.
January 2023 in “Archives of Disease in Childhood Education & Practice” Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
September 1997 in “Journal of the European Academy of Dermatology and Venereology” Hirsute women with ovarian-sourced hirsutism are more likely to have irregular periods, with higher BMI and altered hormone ratios.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
3 citations,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
3 citations,
January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
November 2021 in “CRC Press eBooks” Hair shaft disorders cause fragile, brittle, and abnormal-looking hair.
17 citations,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.