16 citations
,
June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
7 citations
,
October 2012 in “S. Karger AG eBooks” Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
March 2026 in “JCEM Case Reports” Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
5 citations
,
June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
3 citations
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July 2019 in “Case Reports in Obstetrics and Gynecology” A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
120 citations
,
June 2008 in “American Journal of Epidemiology” A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
2 citations
,
January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
2 citations
,
February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
2 citations
,
May 2018 in “Diagnosis” A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
July 2021 in “International Journal of Homoeopathic Sciences” Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
October 2016 in “Journal of Case Reports” A rare ovarian tumor can occur without causing male-like symptoms.
77 citations
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March 2004 in “Human Reproduction” Women with irregular periods and/or excessive body hair are more likely to have polycystic ovaries, and this condition is linked to higher health risks.