9 citations
,
April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
22 citations
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June 2017 in “Advances in Clinical and Experimental Medicine” Polycystic ovary syndrome (PCOS) was first described in 1721, officially diagnosed in the 1990s, and is now known to be partly genetic and linked to insulin resistance, with increased risk of cardiovascular disease and carbohydrate metabolism issues.
PCOS requires personalized treatment to improve life quality and reduce health risks.
January 2001 in “Cambridge University Press eBooks” Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
18 citations
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April 2016 in “Endocrinology and Metabolism Clinics of North America” The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
Early detection and comprehensive treatment of PCOS are crucial due to its long-term health impacts and associated risks.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” Diagnosing PCOS is challenging due to its complex and varied symptoms.
July 2023 in “Endocrinology, diabetes & metabolism case reports” Sertoliform endometrioid carcinoma of the ovary, though rare, has a good prognosis when treated early.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
January 2017 in “University journal of surgery and surgical specialities” Steroid cell tumors in ovaries are rare, can cause hormone changes, and may be cancerous.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
Individualized treatment improves symptoms and quality of life for women with PCOS.
14 citations
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July 2016 in “Fertility and Sterility” Changing the diagnosis criteria for PCOS might miss women at risk for related health issues.
37 citations
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March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
1744 citations
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August 2006 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” PCOS is a major health issue affecting multiple hormone-producing organs.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
19 citations
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July 2013 in “The obstetrician & gynaecologist” The document concludes that careful evaluation is needed to diagnose PCOS correctly due to similar symptoms in other conditions, and accurate testosterone level measurement is crucial.
12 citations
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January 2016 in “Journal of Assisted Reproduction and Genetics” Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
14 citations
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January 2018 in “Endocrinology and Metabolism” Many infertile women with PCOS in Central Vietnam have metabolic or insulin resistance syndrome, with obesity and older age increasing the risk.
1 citations
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July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
June 2025 in “IntechOpen eBooks” PCOS is a common hormonal disorder in women that causes various symptoms and health risks, requiring personalized treatment.