50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
60 citations
,
September 2001 in “Journal of the American Academy of Dermatology” Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
May 2025 in “International Journal of Biology Pharmacy and Allied Sciences” Ayurvedic treatment can effectively manage PCOD symptoms.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
November 2022 in “Journal of the Endocrine Society” A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
January 1994 in “Toxicological Sciences” Lower dosages of 2-(difluoromethyl)-dl-ornithine might reduce side effects, supporting further research.
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.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
18 citations
,
October 2022 in “JCI Insight” Abnormal amino acid metabolism may worsen rosacea symptoms.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
45 citations
,
November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
June 2006 in “Annales de Dermatologie et de Vénéréologie” Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
2 citations
,
July 2024 in “Ibn AL- Haitham Journal For Pure and Applied Science” PCOS women with COVID-19 have higher cardiometabolic risks.
1 citations
,
June 2017 in “International journal of reproduction, contraception, obstetrics and gynecology” N-acetylcysteine was more effective and had fewer side effects than metformin for improving insulin resistance in women with PCOS.
February 2026 in “Journal of the American Academy of Dermatology” Ophiasis mainly affects females, lasts longer, and has lower regrowth rates, with a new classification system helping predict treatment response.
24 citations
,
May 2022 in “Frontiers in Endocrinology” Activating brown fat may help manage PCOS symptoms.
February 2022 in “DOAJ (DOAJ: Directory of Open Access Journals)” Retinoic acid reduces cell damage from oxidative stress.
1 citations
,
January 2022 in “Journal of experimental and clinical medicine” PCOS is linked to diabetes and insulin resistance, and managing AGEs may help treat related symptoms.
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
26 citations
,
June 2014 in “Fertility and Sterility” Teens with PCOS and a mom with PCOS have higher insulin resistance and lower adiponectin levels, which could signal early metabolic problems.
November 2025 in “Fertility Gynecology and Andrology” PCOS involves hormonal and metabolic issues, increasing risks for diabetes and heart disease, and requires lifestyle changes and medication for management.
3 citations
,
March 2007 in “Canadian Medical Association Journal” Women with PCOS should have an oral glucose tolerance test for effective diabetes screening.
August 2023 in “İzmir tepecik eğitim hastanesi dergisi” Vitamin D levels do not significantly relate to the causes of PCOS or DOR in infertile patients.