September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
2 citations
,
February 2004 in “Biopolymers” 4-(4-Phenoxybenzoyl)benzoic acid derivatives can both increase and decrease certain types of reactive oxygen species, and may be relevant to hair loss.
February 2021 in “International Journal of Science and Research (IJSR)” A higher testosterone/dihydrotestosterone ratio in PCOS patients may indicate worse metabolic health.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
2 citations
,
November 2022 in “Bioscience Reports” Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
August 2022 in “International Journal of Health Sciences (IJHS) (En línea)” Oxidative stress is important in causing alopecia areata.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
7 citations
,
January 2020 in “Postepy Dermatologii I Alergologii” Oxidative stress plays a role in female pattern baldness, causing an imbalance between harmful and protective elements in the body.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
August 2015 in “Free Radical Biology and Medicine” Some treatments can improve skin's defense against damage, but overuse may cause other skin problems.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
40 citations
,
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.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
12 citations
,
January 2014 in “Annals of Dermatology” Modified superoxide dismutase may trigger an autoimmune response in alopecia areata.
11 citations
,
January 2017 in “Journal of Endocrinology/Journal of endocrinology” Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
35 citations
,
January 2024 in “BioMolecular Concepts” Lifestyle changes, exercise, and antioxidants can help manage polycystic ovary syndrome.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
40 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” Young girls whose mothers have PCOS may have higher activity of a specific enzyme that could lead to developing PCOS later.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
26 citations
,
June 2016 in “Journal of Reproductive Immunology” Women with PCOS have higher xanthine oxidase activity linked to inflammation and heart disease risks.
13 citations
,
March 2017 in “PubMed” People with a common type of hair loss have higher stress levels in their body, and treatments that reduce this stress could help.
September 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Alopecia patients have a less active liver monoxygenase system, which can be treated with photochemotherapy and system inducers.