7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
November 2022 in “Journal of the Endocrine Society” A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
October 2025 in “F1000Research” Postmenopausal women with excess male hormones may have ovarian tumors, and surgery usually cures them.
1 citations
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December 2017 in “Acta biomedica scientifica” Women of reproductive age with polycystic ovary syndrome often experience hair loss.
July 2026 in “Journal of Ovarian Research” This study conducted single-cell RNA sequencing on a 41-year-old woman with ovarian steroid cell tumors-not otherwise specified (SCT-NOS) and hyperandrogenism, identifying seven cell types, including four KRT19⁺ steroidogenic cell subtypes, within the tumor microenvironment. The analysis revealed aberrant gene expression related to ovarian steroidogenesis and steroid biosynthesis pathways, aligning with hyperandrogenism pathobiology. Additionally, five immune cell types were identified, with tumor-associated macrophages and dendritic cells being predominant. The findings provide insights into the cellular heterogeneity and molecular mechanisms of ovarian SCT-NOS, enhancing understanding and encouraging further research into this rare tumor type.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
10 citations
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May 2009 in “Cases Journal” A woman's masculine symptoms were caused by an ovarian tumor, which improved after surgery.
October 2023 in “Clinical case reports” A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
May 2017 in “DOAJ (DOAJ: Directory of Open Access Journals)” Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
2 citations
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November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
September 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” 
The patient with total hair loss did not regrow hair despite treatment, indicating a poor outlook for this type of hair loss.
12 citations
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March 2018 in “Medicine” A postmenopausal woman's hirsutism and high testosterone levels improved after surgery for an ovarian tumor not seen on ultrasound.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
42 citations
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September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
20 citations
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January 2008 in “Reproductive Biomedicine Online” Sexual orientation does not affect the prevalence of PCOS or fertility rates in women undergoing artificial donor insemination.
September 2024 in “Electronic Journal of General Medicine” Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
2 citations
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June 2017 in “Journal of The American Academy of Dermatology” The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
3 citations
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June 2016 in “Gynecological Endocrinology” Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
1 citations
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February 2015 in “Revista Acadêmica Ciência Animal” A mare had a functional ovary with a tumor containing cartilage and bone.
January 2020 in “Journal of oral medicine and oral surgery” Hair grew in a man's mouth due to a rare condition called heterotopia.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.