10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
53 citations
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November 2021 in “Molecular Human Reproduction” N-acetylcysteine may help treat uterine and placental issues in PCOS.
January 2019 in “Egyptian Journal of Obesity, Diabetes and Endocrinology” People with polycystic ovary syndrome often have low levels of vitamin D.
October 2023 in “Benha Journal of Applied Sciences” Men with male pattern baldness have lower levels of the antioxidant PON1.
26 citations
,
June 2016 in “Journal of Reproductive Immunology” Women with PCOS have higher xanthine oxidase activity linked to inflammation and heart disease risks.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
30 citations
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January 2016 in “Journal of Pharmaceutical and Biomedical Analysis” The research found different metabolism changes in PCOS patients and suggested new potential markers for diagnosing PCOS with or without insulin resistance.
26 citations
,
January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
2 citations
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September 2008 in “Fertility and Sterility” Clinical signs of excess male hormones and actual hormone levels in the blood do not always match in women with polycystic ovary syndrome.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
612 citations
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February 2004 in “Nature” OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
July 2025 in “JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES” Ayurvedic treatment improved PCOS symptoms and hormone levels.
October 2013 in “DOAJ (DOAJ: Directory of Open Access Journals)” 19 citations
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December 1999 in “International Journal of Dermatology” Dihydroxyacetone in self-tanning lotion helped reduce sun-related skin issues in a woman with variegate porphyria.
8 citations
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June 2023 in “European Journal of Endocrinology” The inhibitor affects androgen metabolism but not ovarian function.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
February 2020 in “Diabetologie Und Stoffwechsel” The document concludes that more research is needed to include new treatments in guidelines for Polycystic Ovary Syndrome (PCOS).
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
20 citations
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March 2017 in “Reproductive Biology and Endocrinology” Women with PCOS have higher 5α-reductase activity, which may be linked to insulin resistance.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
35 citations
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August 2021 in “BMC Medical Genomics” Certain metabolites may help diagnose and predict polycystic ovary syndrome.