Results 41 to 50 of about 1,109,166 (346)

Disorders of Sex Development

, 2020
Disorders of Sex Development includes a range of conditions where there may be genital ambiguity at birth or becomes evident later in childhood. It occurs as a result of errors in development of external and internal genital structures. The diagnosis and management of these conditions requires a multidisciplinary approach with shared decision making ...
Chan, Yee Ming, Hannema, SE, Achermann, John, Hughes, Ieuan A.   +3 more
  +8 more sources

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   +7 more sources

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Genome Biology, 2016
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To
Stefanie Eggers, S. Sadedin, J. van den Bergen, Gorjana Robevska, T. Ohnesorg, J. Hewitt, L. Lambeth, A. Bouty, Ingrid M. Knarston, T. Tan, F. Cameron, G. Werther, J. Hutson, M. O’Connell, S. Grover, Y. Heloury, M. Zacharin, P. Bergman, C. Kimber, Justin Brown, N. Webb, M. Hunter, S. Srinivasan, Angela Titmuss, C. Verge, D. Mowat, G. Smith, Janine M. Smith, Lisa J Ewans, C. Shalhoub, P. Crock, C. Cowell, G. Leong, M. Ono, A. Lafferty, Tony Huynh, Uma Visser, C. Choong, F. McKenzie, N. Pachter, E. Thompson, J. Couper, A. Baxendale, J. Gécz, B. Wheeler, C. Jefferies, Karen E. Mackenzie, P. Hofman, Philippa J Carter, R. King, C. Krausz, C. V. van Ravenswaaij-Arts, L. Looijenga, S. Drop, S. Riedl, M. Cools, A. Dawson, A. Juniarto, V. Khadilkar, A. Khadilkar, V. Bhatia, V. C. Dũng, I. Atta, J. Raza, Nguyen thi Diem Chi, Hao Tran Kiem, V. Harley, P. Koopman, G. Warne, S. Faradz, A. Oshlack, K. Ayers, A. Sinclair   +72 more
semanticscholar   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

Acta Medica Martiniana, 2018
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Gecz J, Breza J, Banovcin P
doaj   +1 more source

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Clinical Case Reports, 2020
Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh   +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

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

Asian Journal of Andrology, 2020
46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical
Bingqing Yu, Zhaoxiang Liu, Yinjie Gao, Xi Wang, J. Mao, M. Nie, Xueyan Wu   +6 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

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Endocrine reviews, 2019
Differences/Disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex.
A. Wisniewski, R. Batista, E. Costa, C. Finlayson, M. Sircili, F. Dénes, S. Domenice, B. Mendonca   +7 more
semanticscholar   +1 more source

Anxious to see you: Neuroendocrine mechanisms of social vigilance and anxiety during adolescence. [PDF]

, 2020
Social vigilance is a behavioral strategy commonly used in adverse or changing social environments. In animals, a combination of avoidance and vigilance allows an individual to evade potentially dangerous confrontations while monitoring the social ...
Cassano G. B., Gegenhuber B., Hollingworth S. A., Marler C. A., Park J., Pickett C. L., Williamson C. M.   +6 more
core   +1 more source