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.
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.
April 2023 in “Research Square (Research Square)” A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
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.
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
60 citations
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June 1997 in “Baillière's clinical obstetrics and gynaecology” PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
2 citations
,
January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
May 2023 in “The journal of sexual medicine” Ovarian Hyperthecosis caused hypersexuality in an older woman and was successfully treated with surgery.
36 citations
,
November 2009 in “European Radiology” The study found that women with PCOS have more and larger ovarian follicles and differences in ovarian structure, but these features alone can't always diagnose PCOS.
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.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.