42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
10 citations
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May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
People with chronic hives should be tested for thyroid autoimmunity to manage their condition better.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
11 citations
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August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
12 citations
,
July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
8 citations
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June 2012 in “Journal of Crohn s and Colitis” Managing multiple autoimmune diseases in one patient is extremely challenging.
3 citations
,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
1 citations
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August 2015 in “PubMed” A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
32 citations
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July 2003 in “Annals of the Rheumatic Diseases” A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
3 citations
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April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
May 2014 in “La Revue de médecine interne” Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
January 2017 in “Postepy Dermatologii I Alergologii” The CRH/CRH-R1 system might be involved in causing lichen planus.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
January 2024 in “Diagnostics” Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
5 citations
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November 2015 in “International Journal of Dermatology”