January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
1 citations
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February 2025 in “Frontiers in Medicine” JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
March 2012 in “Journal of Pediatric and Adolescent Gynecology” Teens with PCOS have a higher risk of type 2 diabetes and need regular glucose checks.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
30 citations
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March 2015 in “Clinical Endocrinology” Young women with high male hormone levels or PCOS often feel more psychological distress and have a lower quality of life.
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.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
October 2024 in “Journal of the Endocrine Society” Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
2 citations
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September 2023 in “Journal of the American Academy of Dermatology”
1 citations
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June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
May 2010 in “Current Women's Health Reviews” The document concludes that early diagnosis and treatment of PCOS in teenagers is important for managing symptoms and preventing long-term health problems.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
2 citations
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September 2021 in “Universal Journal of Pharmaceutical Research” PCOS is linked to hormone disorders and issues like infertility and irregular periods.
1 citations
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January 2013 in “International Journal of Trichology” A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
14 citations
,
September 2014 in “Journal of Pediatric and Adolescent Gynecology” Irregular menstrual cycles in teenagers are linked to a higher risk of polycystic ovary syndrome and metabolic syndrome.
87 citations
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July 2018 in “Nursing Clinics of North America” PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
June 2020 in “Italian journal of gynaecology & obstetrics” The document concludes that PCOS in teenagers is hard to diagnose, influenced by various factors, and should be managed with lifestyle changes and medication.