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.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
4 citations
,
March 2021 in “International Journal of Environmental Research and Public Health” Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
2 citations
,
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.
March 2023 in “Scholars international journal of obstetrics and gynecology” PCOS is a complex condition that affects women's hormonal balance and metabolism, requiring lifestyle changes and medical management.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
2 citations
,
January 2014 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Sertoli-Leydig cell tumors are rare ovarian tumors that can cause symptoms like menorrhagia.
9 citations
,
August 2013 in “Middle East Fertility Society Journal” About 7% of Omani women visiting a gynecology clinic had polycystic ovarian syndrome, similar to rates in other countries.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
2 citations
,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
883 citations
,
August 2016 in “Nature Reviews Disease Primers” Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
3 citations
,
May 2023 in “Endocrine Abstracts” PCOS has three subtypes, with 11-oxygenated androgens increasing metabolic risk.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
2 citations
,
May 2006 in “Women's Health Medicine” PCOS is diagnosed when at least two of these three features are present: polycystic ovaries, irregular ovulation, and high androgen levels.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
September 2025 in “Anti-Aging Eastern Europe” PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
38 citations
,
May 2006 in “Archives of Gynecology and Obstetrics” Women with only irregular periods or excess hair have a better hormone profile than those with full PCOS, but both groups are similar, indicating a need for better PCOS diagnosis methods.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
November 2022 in “Journal of the Endocrine Society” A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
221 citations
,
January 2014 in “Human Reproduction” Adding anti-Müllerian hormone to PCOS criteria lowers the number of women diagnosed.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
1 citations
,
February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.