August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
Insulin resistance is linked to many health problems and is influenced by diet, genetics, and other factors.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
2 citations
,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
1 citations
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February 2020 in “Cureus” Women with PCOS are more likely to have skin problems like excessive hair, acne, and hair loss.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
292 citations
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April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
222 citations
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January 2014 in “International journal of reproductive medicine” Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
100 citations
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June 2002 in “Diabetologia” Parents of women with PCOS have a higher risk of Type II diabetes and insulin resistance, especially fathers.
63 citations
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January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
29 citations
,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
25 citations
,
June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
24 citations
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June 2013 in “Journal of neuroendocrinology” Neuroactive steroids and the enzyme 5α-reductase might be involved in the development of Tourette's syndrome.