Ultrasound alone isn't enough to diagnose PCOS.
1 citations
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December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
September 2024 in “International Journal of Women’s Dermatology” Early diagnosis and thorough evaluation are crucial for better outcomes in alopecic sarcoidosis.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
October 2016 in “Journal of Case Reports” A rare ovarian tumor can occur without causing male-like symptoms.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
April 2026 in “BMJ Case Reports” Leydig cell tumors can cause high testosterone in women and are treated by removing the ovaries.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
1 citations
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January 2016 in “INTAS POLIVET” High selenium levels in some areas cause health issues in cows and buffaloes, but blood tests remain normal.
2 citations
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August 2014 in “Journal of the American Academy of Dermatology” A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
8 citations
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December 1997 in “International Journal of Dermatology” The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
5 citations
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February 2015 in “Egyptian Journal of Ear Nose Throat and Allied Sciences” A rare benign cheek tumor was successfully removed from a 15-year-old girl without complications or recurrence.
1 citations
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December 2020 in “The World Journal of Men's Health”
26 citations
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January 2017 in “Journal of Clinical Pediatric Dentistry” Dental erosion is common in adolescents and is linked to diet and higher socioeconomic status.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
50 citations
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October 2007 in “Archives of Dermatological Research”
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
17 citations
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May 2022 in “Cells and Development”
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
62 citations
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October 2019 in “Liver International” Women with PCOS have more severe liver disease.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.