January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
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November 2002 in “Endocrine practice” The patient's high testosterone was reduced by a medication that suppresses gonadotropin.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
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May 2007 in “PubMed” Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
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January 2013 in “The Journal of Clinical Endocrinology and Metabolism” Obese women with PCOS show a male-like pattern in certain fat tissue gene expressions.
June 2022 in “Mayo Clinic Proceedings” The man was diagnosed with stage III multiple myeloma and treated to improve kidney function.
February 2026 in “Nature Communications” Inhibiting connective tissue sheath contraction may improve hair growth in male pattern baldness.
June 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” New technologies show potential for better understanding and treating skin conditions with abnormal mucin, but more research is needed for clinical use.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.