Results 91 to 100 of about 56,903 (162)

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

, 2012
More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like ...
Michel Polak, Audran Francoise, Polak Michel, Manouvrier Sylvie, Francoise Audran, Philibert Pascal, Ogata Totsumo, Charles Sultan, Graziella Pinto, Fukami Maki, Nicolas Kalfa, Totsumo Ogata, Catherine Pienkowski, Jacques Weill, Pascal Philibert, Kalfa Nicolas, Pienkowski Catherine, Sylvie Manouvrier, Pinto Graziella, Maki Fukami, Weill Jacques, Sultan Charles   +21 more
core   +1 more source

Genetics of 46,XY gonadal dysgenesis

, 2022
International audienceIn 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and affected individuals present ...
Mcelreavey, Ken, Elzaiat, Maëva, Bashamboo, Anu   +2 more
core   +1 more source

Clinical, pathological and morphometric study of ten male disgenetic pseudohermaphroditism (DSD 46,XY)

, 2010
O Pseudohermafroditismo masculino disgenético (Anomalia da diferenciação sexual 46,XY ADS 46,XY) é definido como ambigüidade genital num paciente com testículos e/ou cariótipo 46,XY com uma das seguintes características: alteração histológica testicular,
Guedes, Dulce Rondina, Dulce Rondina Guedes   +1 more
core   +1 more source

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Journal of Biomedicine and Translational Research, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Sultana MH Faradz   +2 more
doaj   +1 more source

EVALUASI HASIL OPERASI HIPOSPADIA PADA PASIEN DENGAN 46,XY DISORDERS OF SEX DEVELOPMENT (DSD) [PDF]

, 2011
Background: Disorders of sex development manifesting as hypospadias in patients with 46,XY DSD require surgical treatment. Evaluation of hypospadias repair outcomes is essential for identification and treatment of complication, considering that ...
Erna, Wang, MH Faradz, Sultana, Juniarto, Zulfa   +2 more
core   +1 more source

Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases

Indian Journal of Endocrinology and Metabolism
Introduction: One of the common causes of 46,XY differences in sex development (DSD) cases is androgen insensitivity syndrome. This X-linked recessive inherited condition is associated with pathological variations of the AR gene, leading to defects in ...
Nanis S. Marzuki, Hannie D. Kartapradja, Farah N. Coutrier, Irfan Wahyudi, Jose R.L. Batubara   +4 more
doaj   +1 more source

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Endocrine Connections, 2018
Background: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.
E Kohva, P J Miettinen, M Hero, A Tarkkanen, T Raivio, S Taskinen   +5 more
doaj   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

, 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 ...
Banovcin P, Gecz J, Breza J
core   +1 more source

Clinicoepidemiological Profile of Disorders of Sex Development Presenting to a Tertiary Care Center: A Descriptive Observational Study

Journal of Indian Association of Pediatric Surgeons
Background and Objective: The prevalence of disorders of sex development (DSD) is estimated to affect approximately 1 in 4500–5500 newborns, yet there is a dearth of studies, particularly in Central India, on this topic.
Sujeet Kumar Pandre, Pramod Kumar Sharma, Roshan Chanchlani, Mahesh Maheshwari, Suresh Kumar Thanneeru, Reyaz Ahmad   +5 more
doaj   +1 more source

5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family. [PDF]

Clin Case Rep, 2023
Noroozi Asl S, Ibrahimi R, Bagheri S, Lotfi M.   +3 more
europepmc   +1 more source