227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
49 citations
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January 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Selective non-steroidal inhibitors of 5α-reductase type 1 can help treat DHT-related disorders.
December 2017 in “Elsevier eBooks” The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
1 citations
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January 2006 Hirsutism is mainly caused by high androgen levels or sensitivity, with PCOS being the most common cause.
January 1977 in “Case Reports in Medicine” Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
October 2025 in “European Journal of Translational and Clinical Medicine” High serum DHT levels can help diagnose PCOS.
2 citations
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September 2007 in “International Journal of Impotence Research” Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
5 citations
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April 2014 in “International Journal of Pediatric Endocrinology” Prepubertal girls with hypertrichosis have more sensitive androgen receptors, leading to increased body hair growth.
November 2020 in “ALEXMED ePosters (Online)” People with PCOS often have skin problems like excessive hair growth, hair loss, acne, and dark patches, which are linked to hormonal and metabolic imbalances.
October 2021 in “International Journal of Research in Dermatology” People with alopecia areata often have low vitamin D levels, which may worsen their hair loss.
March 2021 in “Indian Journal of Case Reports” A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
11 citations
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July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
1 citations
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November 2002 in “Endocrine practice” The patient's high testosterone was reduced by a medication that suppresses gonadotropin.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
29 citations
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December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
24 citations
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October 1994 in “Fertility and Sterility” People with hair loss may have different levels of certain hormones due to changes in hormone processing.
November 2024 in “Frontiers in Endocrinology” Hair analysis can help diagnose adrenal disorders non-invasively.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
6 citations
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May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
January 2009 in “Yearbook of Endocrinology” DHEA therapy improves pubic hair growth and psychological well-being in young females with central adrenal insufficiency.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
16 citations
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August 1989 in “Human Reproduction” Hirsutism in females is caused by high male hormones or sensitive hair follicles.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.