Results 31 to 40 of about 588,573 (284)

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development [PDF]

, 2011
It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD.
Wallace, A. Michael, Miles, HL, Louise Izatt, Michael Wallace, A, A. Michael Wallace, Sue Elford, Sanders, C, Simmonds, M, Edwards, Zoe, Gerry Conway, Elford, S, Watt, Andrew, Les Perry, John C. Achermann, Sanders, C., O'Toole, S, Balen, Adam, Balen, A.H., Miles, H.L., Miles, Harriet L., Sanders, Caroline, Krone, Nils, Izatt, L, Willis, Debbie, Ieuan A. Hughes, Arl, W, Adam H. Balen, Arlt, W., Wiebke Arlt, Willis, D, Debbie Willis, Ahmed, S.F., S. Faisal Ahmed, Edwards, ZL, Edwards, Z.L., Hughes, Ieuan A., Perry, Les, Margaret Simmonds, O'Toole, S., Ahmed, SF, Faisal Ahmed, S, Achermann, John C, Elford, Sue, Conway, Gerry, Wallace, AM, Edwards, Zoe L., Miles, Harriet, Willis, D., Wallace, A.M., Watt, A., Nils Krone, Hughes, I.A., Simmonds, M., Achermann, JC, Izatt, Louise, O'Toole, Stuart, Hughes, IA, Krone, N, Perry, L., Simmonds, Margaret, Balen, AH, Hughes, Ieuan A, Elford, S., Conway, G., Ahmed, S. Faisal, Zoe L. Edwards, Stuart O’Toole, Krone, N., Perry, L, Arlt, Wiebke, Caroline Sanders, Andrew Watt, Achermann, John C., Balen, Adam H., O’Toole, Stuart, Achermann, J.C., Harriet L. Miles, Conway, G, Izatt, L., Watt, A   +79 more
core   +1 more source

Molecular Aspects of Sex Development in Mammals: New Insight for Practice. [PDF]

, 2020
Disorders (or differences) of sex development (DSD) are congenital conditions characterized by atypical development of genetic, gonadal or phenotypic sex [...]
Audí, Laura, Flück, Christa E., Bertelloni, Silvano, Silvano Bertelloni, Christa E. Flück, Laura Audí   +5 more
core   +1 more source

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo   +8 more
doaj   +1 more source

Améliorer les pratiques de soins pour les personnes présentant une variation du développement du sexe en Suisse. L’École de Lausanne (depuis 2005)

Droit et Cultures, 2021
This article presents a short history of the Lausanne School or “Swiss model” (as it is sometimes called abroad) created in the context of an interdisciplinary “SHS and gender in medicine” project we launched in 2005 to improve medical care for persons ...
Cynthia Kraus, Franziska Phan-Hug, François Ansermet, Blaise Julien Meyrat   +3 more
doaj  

Analysis in the influence factors of urethroplasty in DSD

BMC Urology, 2022
Background At present, there is no specific research on the factors affecting the success rate of urethroplasty in patients with DSD. The purpose of this study is to explore the factors affecting the success of urethroplasty in DSD patients, and to ...
Jing Yu, Ning Sun, Hongcheng Song, Minglei Li, Lele Li, Chunxiu Gong, Weiping Zhang   +6 more
doaj   +1 more source

A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan

Endocrine Journal
Prader–Willi syndrome (PWS) is associated with increased mortality, primarily due to complications from hyperphagia-associated obesity. Clinical trials investigating anti-hyperphagic medications are currently underway.
Makiko Tachibana, Yuji Oto, Kenichi Kashimada, Tomohiro Ishii, Yutaka Takahashi, Koji Muroya, Yoko Aoki, Kenji Kurosawa, Tsutomu Ogata, Masanobu Kawai   +9 more
doaj   +1 more source

True hermaphrodite presenting as primary amenorrhea

Indian Journal of Endocrinology and Metabolism, 2012
True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo, Mary Daniel, Alaganandam Padma, Jaya Prakash Sahoo   +3 more
doaj   +1 more source

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing [PDF]

Investigative and Clinical Urology
Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).
Ja Hye Kim, Kun Suk Kim, Jae Hyeon Han, Dongsu Kim, Chan Hoon Kwak, Jin-Ho Choi, Sang Hoon Song   +6 more
doaj   +1 more source