78 citations,
April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
56 citations,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
[object Object] 42 citations,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
35 citations,
June 2005 in “The Milbank Quarterly” The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
25 citations,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
14 citations,
January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
9 citations,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
9 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
4 citations,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
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.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
[object Object] 2 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
October 2017 in “Springer eBooks” A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
February 2023 in “Journal of Aesthetic Nursing” Various hair restoration methods can effectively promote hair growth.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
5 citations,
May 2018 in “Therapeutic advances in drug safety” Androgen use may increase the risk of stroke, but more research is needed.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
58 citations,
September 2012 in “Dermatologic Clinics” Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
273 citations,
May 2017 in “The Lancet” Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
3 citations,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
3 citations,
September 2020 in “Journal of developmental and behavioral pediatrics/Journal of developmental & behavioral pediatrics” The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
2 citations,
June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.