Accurate diagnosis of PCOS requires comprehensive androgen measurement.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
13 citations
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August 2018 in “Taiwanese Journal of Obstetrics & Gynecology” AMH is a good marker for diagnosing PCOS, but global standards are needed.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
7 citations
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March 2000 in “CRC Press eBooks” 71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
9 citations
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February 2007 in “JAMA” PCOS is a common inherited condition causing cysts, irregular periods, and increased diabetes risk in women.
53 citations
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October 2003 in “Developmental Biology” Too much Sonic Hedgehog protein stops hair growth in embryos.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.