96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
70 citations,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
68 citations,
January 2008 in “Seminars in reproductive medicine” Women with PCOS often feel stigmatized and have mood issues, which can lower their sexual satisfaction, but proper treatment and support can help.
47 citations,
July 2013 in “Pharmacological Reviews” Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
39 citations,
September 2017 in “The Open Rheumatology Journal” Low serum complement levels in SLE patients don't always match with disease flares; monitoring C3 and C4 is useful, but cell-bound complement products might better indicate disease activity.
6 citations,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
5 citations,
July 2018 in “Pediatrics” A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
January 2016 in “Elsevier eBooks” The conclusion is that grasping how cells determine their roles through evolution is key, with expected progress from new research models and genome editing.
1540 citations,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1415 citations,
October 2007 in “European Journal of Epidemiology” The Rotterdam Study investigates diseases in older adults and has produced many research findings.
467 citations,
October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
284 citations,
February 2008 in “Pediatrics” Chemicals and body size might change when puberty starts and progresses, but more research is needed to confirm this.
96 citations,
February 2007 in “The Journal of Clinical Endocrinology & Metabolism” Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.
86 citations,
July 1993 in “Drugs” Finasteride treats enlarged prostate, shrinks it, improves urination, but may cause sexual dysfunction and isn't for women or children.
50 citations,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
42 citations,
January 2007 in “Pediatric dermatology” Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
32 citations,
April 1999 in “Expert Opinion on Investigational Drugs” Finasteride effectively treats male hair loss, improving growth and density.
31 citations,
October 2013 in “Psychosomatics” Psychotropic medications can cause skin reactions, including severe conditions like SJS and TEN, and it's important for psychiatrists to recognize and manage these side effects.
28 citations,
November 2007 in “Medical Clinics of North America” Obesity worsens Polycystic Ovary Syndrome symptoms, and weight loss is a key treatment.
15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
14 citations,
February 2016 in “Journal of Obstetrics and Gynaecology Research” Blood tests are needed to confirm high male hormone levels in women with PCOS, as physical signs alone are not reliable.
12 citations,
April 2018 in “Physiology & Behavior” Finasteride raises suicide-linked aggression and stops clozapine's positive effects in schizophrenia animals.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
5 citations,
September 2002 in “Archives of Dermatology” Dermatologists diagnose and manage melanoma more effectively than general practitioners.
3 citations,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
3 citations,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
2 citations,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.