March 2025 in “Journal of Pediatric Endocrinology and Metabolism” Elevated testosterone, DHEA-S, and FAI help identify PCOS risk in menstrual irregularities.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
13 citations
,
October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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.
24 citations
,
May 1985 in “The Journal of Clinical Endocrinology & Metabolism” A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
7 citations
,
April 2021 in “Journal of Lower Genital Tract Disease” Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
1 citations
,
January 2017 in “Indian Journal of Pharmaceutical Sciences” Women with PCOS often have different clinical signs, hormone levels, and gynecological issues compared to those without the condition.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
37 citations
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March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
September 2022 in “Women's healthcare” PCOS is managed by lifestyle changes and personalized medication to improve symptoms and fertility.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
15 citations
,
May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
5 citations
,
March 2005 in “Journal of The American Academy of Dermatology” 254 citations
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March 2023 in “Diagnostics” The guidelines suggest reconsidering PCOS criteria for better diagnosis and care.
19 citations
,
January 1991 in “PubMed” Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
43 citations
,
October 2019 in “Pediatric Research” Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
February 2026 in “Research Society and Development” PCOS is a common disorder in women causing symptoms like irregular periods and infertility, and requires early diagnosis and treatment.