October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
70 citations
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March 2008 in “Mechanisms of Ageing and Development” Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
9 citations
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July 2013 in “Clinical Neuroradiology” A man developed a rare blood vessel connection on his scalp after hair transplants, which was successfully treated with surgery.
6 citations
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
6 citations
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July 2013 in “Acta Clinica Belgica” The document concludes that combination therapy is most effective for treating excessive hair growth in women with idiopathic hirsutism, and more research is needed to understand the condition.
January 1982 in “Side effects of drugs annual” High doses of certain vitamins can cause serious side effects and health risks.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
January 2017 in “Turkiye Klinikleri Journal of Dermatology” A 9-month-old baby had a rare, persistent ring-shaped hair loss condition.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
1 citations
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August 2010 in “Optometry and Vision Science” A 4-year-old boy's vision and hair loss were likely caused by inflammation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
22 citations
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August 2013 in “Facial Plastic Surgery Clinics of North America” A cosmetic procedure can lower the hairline by up to 10 cm, with high satisfaction but potential for temporary sensation loss and rare risks.
1 citations
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June 2017 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride use may cause sexual dysfunction; more research needed.
October 2025 in “Indian Journal of Paediatric Dermatology” The infant's hair loss resolved naturally by 20 months without treatment.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
989 citations
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August 2007 in “The Lancet” PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
480 citations
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August 2014 in “Nature Biotechnology” Changing the environment around stem cells could help tissue repair, but it's hard to be precise and avoid side effects.
373 citations
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September 2009 in “Obstetrics & Gynecology” The bulletin provides guidelines for diagnosing and managing PCOS, suggesting weight loss, hormonal contraceptives, and diabetes screening, with clomiphene for infertility and various treatments for excess hair.
253 citations
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March 2006 in “The Journal of Clinical Endocrinology and Metabolism” Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
240 citations
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April 2011 in “Pigment Cell & Melanoma Research” Melanocyte stem cells in hair follicles are key for hair color and could help treat greying and pigment disorders.
222 citations
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January 2014 in “International journal of reproductive medicine” Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
146 citations
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December 2016 in “Translational Andrology and Urology” Hormone therapy is essential for transgender individuals but requires careful management due to possible metabolic effects.