Results 41 to 50 of about 21,834 (238)

46 XY DISORDER

The Professional Medical Journal, 2016
Objectives: The Disorders of Sex Development are classified as 46, XY DSD,46, XX DSD and Chromosomal DSD according to the chromosomal constitution of the affectedpersons. 46, XY DSD is further classified into Androgen Synthetic Defect, Androgen InsensitivitySyndrome Gonadal Dysgenesis, 5-Alpha Reductase Deficiency, Persistent Mullerian DuctSyndrome and
Dr. Muhammad Naveed Najeeb, Dr. Sadiq Hussain Malik, Dr. Sheikh Khurram Salam Sehgal, Dr. Ameer Ahmad Malik, Dr. Saqib Mehmood   +4 more
openaire   +2 more sources

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Not Judging by Appearances: The Role of Genotype in Jewish Law on Intersex Conditions [PDF]

, 2012
Jewish communities have always had children with intersex conditions, which involve atypical anatomic, chromosomal, or gonadal sex. In the last several decades, Orthodox rabbis have issued ad hoc rulings to assign sex to children and adults with intersex
Hillel Gray
core   +1 more source

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

Urology Annals, 2015
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual.
Shyam M Talreja, Indraneel Banerjee, Sher Singh Yadav, Vinay Tomar   +3 more
doaj   +1 more source

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. [PDF]

PLoS ONE, 2011
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We
Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo   +12 more
doaj   +1 more source

Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis

Revista Brasileira de Ginecologia e Obstetrícia, 2021
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome
Maria Liz Coelho, Elisa Soares, Marília Freixo, Pedro Brandão, Carla Marinho, Juliana Rocha, Graça Rodrigues   +6 more
doaj   +1 more source

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Ahmed, Ahmed, Ahmed, Bashamboo, Camats, Ferraz-de-Souza, Hughes, Idkowiak, Kyriakie Sarafoglou, Ledig, Pasterski, Pearlman, S. Faisal Ahmed, Sarafoglou, Sarafoglou   +14 more
core   +1 more source

Germ cell and other tumors in individuals with differences in sex development. [PDF]

CA Cancer J Clin
Witchel SF, Reyes-Múgica M.
europepmc   +2 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

GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development

Clinical Case Reports, 2018
Key Clinical Message We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development.
Daisuke Shimizu, Satoru Iwashima, Keisuke Sato, Satoshi Hayano, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata   +6 more
doaj   +1 more source