Results 51 to 60 of about 990,174 (349)

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

Human sex development: targeted technologies to improve diagnosis [PDF]

, 2016
A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their ...
Achermann, JC, Buonocore, F
core   +3 more sources

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  

DIFFERENTIAL DIAGNOSIS OF GENDER DYSPHORIA IN TERMS OF REPRODUCTIVE ENDOCRINOLOGY

İstanbul Tıp Fakültesi Dergisi, 2021
An increasing number of adolescents and adults present to clinics for medical assistance with gender dysphoria. The first evaluation of the patients presenting with this clinical picture with unclear etiology includes a short clinical examination to ...
Özlem Dural
doaj   +1 more source

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]

, 2017
Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal, Bryce, Jillian, Dessens, Arianne, Ediati, Annastasia, Guaragna-Filho, Guilherme, Hiort, Olaf, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Kyriakou, Andreas, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline   +12 more
core   +6 more sources

Female hypospadias in combination with stenosis of artificial introitus in a patient with idiopathic congenital virilization

Андрология и генитальная хирургия, 2018
Presented clinical case demonstrates the complexity of diagnosis of the female hypospadias and management of patients with disorders of sex development.
A. V. Anikiev, A. B. Okulov, E. A. Volod’ko, D. N. Brovin, V. A. Peterkova   +4 more
doaj   +1 more source

Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]

, 2010
Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique, Green-Golan, Liza, Leschek, Ellen, Merke, Deborah, Müller, Sven, Ng, Pamela, Sinaii, Ninet, VanRyzin, Carol   +7 more
core   +2 more sources

Comprehensive transcriptome analysis of hypothalamus reveals genes associated with disorders of sex development in pigs

Journal of Steroid Biochemistry and Molecular Biology, 2020
XX sex reversal, also called XX disorders of sex development (XX-DSD), is a condition affecting the development of the gonads or genitalia, and is relatively common in pigs.
Shuwen Tan, Yi Zhou, Haiquan Zhao, Jinhua Wu, Hui Yu, Yin Yang, Yalan Yang, Huabin Zhao, Hua Li   +8 more
semanticscholar   +1 more source

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]

, 2015
Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie), Drop, S.L.S. (Stenvert), Eggers, S. (Stefanie), Faradz, S.M.H. (Sultana), Harley, V.R. (Vincent), Juniarto, A.Z. (Achmad), Koopman, P. (Peter), Looijenga, L.H.J. (Leendert), Sinclair, A. (Andrew), Smith, K.R. (Ken Robert)   +9 more
core   +1 more source

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

Endocrine Connections, 2019
Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging ...
L. Hughes, K. McKay Bounford, E. Webb, Pooja Dasani, S. Clokie, Harish Chandran, L. McCarthy, Zainaba Mohamed, J. Kirk, N. Krone, S. Allen, T. Cole   +11 more
semanticscholar   +1 more source