54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
23 citations
,
June 2015 in “Clinica Chimica Acta” Researchers found potential urine markers for polycystic ovary syndrome, including testosterone-glucuronide and 11α-hydroxyprogesterone, which may help diagnose the condition.
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
1 citations
,
June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
July 2015 in “NEJM Journal Watch” Diagnosing and treating PCOS in young people is difficult.
Mutations in specific genes cause different types of ectodermal dysplasias.
3 citations
,
May 2022 in “Indian Journal of Dermatology” Low ferritin and high Anti TPO levels are linked to early hair greying.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
September 2014 in “Emergency Medicine News” The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
508 citations
,
June 2009 in “Current drug metabolism” Tyrosine kinase inhibitors effectively treat cancers but often cause skin and other side effects.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
3 citations
,
July 2015 in “Pediatrics in review” Precocious puberty is starting earlier due to factors like obesity and chemicals, with treatment focusing on preserving height and addressing social issues.
11 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Adolescents and young adults with Prader-Willi syndrome show a range of sexual interests and behaviors.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
13 citations
,
January 2012 in “International Journal of Trichology” Eating too many paradise nuts for cancer prevention caused a woman to lose all her hair due to selenium poisoning.
13 citations
,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.