2 citations
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March 2020 in “JAAD case reports” A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
May 2023 in “Karnataka Pediatric Journal” Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
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.
41 citations
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January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
21 citations
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September 2019 in “Archives of Physiology and Biochemistry” High-intensity interval training improves certain hormone levels and lipid profiles in women with PCOS.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
March 2020 in “The Thai Journal of Veterinary Medicine” A Thai Bangkaew dog with diabetes and pancreatic issues improved with insulin, enzymes, and vitamins.
3 citations
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April 2019 in “Hormone and Metabolic Research” Women with PCOS have lower adiponectin hormone levels and are more likely to have insulin resistance.
January 2018 in “SOJ microbiology & infectious diseases” Etanercept, a psoriasis treatment, caused hair loss in a patient.
August 2019 in “Journal of Dermatology” Woman with diabetes had hair loss due to rare ovarian tumor; surgery improved hair growth.
March 2023 in “Здобутки клінічної і експериментальної медицини” Low vitamin D in overweight teens is linked to higher leptin and lower adiponectin, affecting metabolism.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
Fetuin-A levels are higher in PCOS patients, suggesting it may play a role in the condition.
7 citations
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May 2024 in “Acta Obstetricia Et Gynecologica Scandinavica” Severe menstrual issues in PCOS women signal higher risk for heart and metabolic problems.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
9 citations
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July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
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.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 2022 in “International journal of zoological investigations” Polycystic Ovarian Syndrome is common in overweight urban college girls and may increase the risk of heart and metabolic problems.
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
November 2022 in “Journal of the Endocrine Society” Diagnosing osteoporosis in transgender people is challenging due to unclear guidelines and hormone treatment effects.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.