June 2016 in “International journal of recent surgical and medical science” Early balding in men is linked to metabolic syndrome, so screening is important for prevention.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
March 2025 in “Laboratory Investigation” MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
September 2024 in “Journal of the American Academy of Dermatology” Early-onset male baldness may increase the risk of metabolic syndrome.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
47 citations
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February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
5 citations
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June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
August 2019 in “Journal of Dermatology” Woman with diabetes had hair loss due to rare ovarian tumor; surgery improved hair growth.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
1 citations
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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.
96 citations
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February 2007 in “The Journal of Clinical Endocrinology & Metabolism” Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.
October 2023 in “Journal of the Endocrine Society” A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
Men with androgenetic alopecia may have a higher risk of metabolic syndrome.
October 2024 in “Journal of College of Physicians And Surgeons Pakistan” People with androgenetic alopecia are more likely to have metabolic syndrome.
December 2022 in “Sri Lanka Journal of Diabetes Endocrinology and Metabolism” Early hair loss in young men is linked to higher risk of metabolic syndrome.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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
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January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
2 citations
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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.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.