December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
93 citations
,
January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
14 citations
,
December 2010 in “Seminars in Oncology” Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
12 citations
,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
1 citations
,
December 2018 in “IntechOpen eBooks” Human hair shows promise for non-invasive medical testing, but more research is needed to standardize its use.
2 citations
,
September 2011 in “Pediatric Dermatology” The document suggests there might be a link between Kawasaki Disease and Alopecia Areata that needs more research.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
77 citations
,
June 2006 in “Best Practice & Research Clinical Endocrinology & Metabolism” The document concludes that accurate measurement of serum androgens is crucial for diagnosing hyperandrogenism.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
June 2003 in “Obstetrical & Gynecological Survey” Postmenopausal ovary stromal cells have a unique makeup and limited steroid production, suggesting androgens come from the adrenal gland.
1 citations
,
March 2021 in “Journal of Experimental Biology and Agricultural Sciences” Flaxseed crackers can help reduce symptoms of PCOS in young women.
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.
2 citations
,
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.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
October 2025 in “Experimental & Molecular Medicine” Hair analysis is valuable for health and forensics but faces challenges like growth variability and contamination.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
8 citations
,
January 2013 in “The scientific world journal/TheScientificWorldjournal” Human hair follicles may provide a noninvasive way to diagnose diseases and have potential in regenerative medicine.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
42 citations
,
January 2011 in “Journal of Biomedical Optics” Infrared and Raman imaging can non-destructively analyze hair structure and help diagnose hair conditions.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
12 citations
,
June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
8 citations
,
July 2015 in “European journal of histochemistry” Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
3 citations
,
July 2024 in “Journal of Vascular Diseases” Ischemia-modified albumin can help diagnose ischemic conditions early, but better detection methods are needed.
18 citations
,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
5 citations
,
April 2021 in “Journal of Endocrinological Investigation” Higher DHT levels are linked to fewer hypogonadism symptoms in men with normal testosterone levels.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.