Results 11 to 20 of about 167,087,863 (243)

46,XY ovotesticular disorders of sex development: A therapeutic challenge [PDF]

Pediatric Reports, 2017
46,XY ovotesticular disorder of sex development is extremely rare and indicates the presence of both testis and ovary in the same patient. Gender assignment in newborns represents a therapeutic challenge.
Maria-Grazia Scarpa, Massimo Di Grazia, Gianluca Tornese   +2 more
doaj   +2 more sources

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

Advances in Laboratory Medicine, 2021
46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete intrauterine virilization, with or without the presence of Müllerian ducts remnants.
Granada Maria Luisa, Audí Laura
doaj   +2 more sources

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Frontiers in Endocrinology, 2018
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also
Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V. Pandey, Amit V. Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Luis Castaño, Laura Audi, Christa E. Flück, Christa E. Flück   +15 more
doaj   +2 more sources

DHX37 variants in patients with 46,XY disorders or differences of sex development

Human Genome Variation
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients.
Yuko Katoh-Fukui, Daisuke Saito, Hiroko Narumi, Atsushi Hattori, Maki Igarashi, Erika Uehara, Hirohito Shima, Junko Kanno, Yukihiro Hasegawa, Reiko Horikawa, Keisuke Nagasaki, Maki Fukami   +11 more
doaj   +2 more sources

Clinical profile of patients with 46 XY disorders of sex development: a single centered experience [PDF]

, 2021
Background: XY disorders of sex development are a complex entity that needs medical attention from childhood to adolescence and throughout life. The aim of the study was to analyze retrospectively the medical records of subjects with 46 XY disorders of ...
Das, Darvin V.
core   +1 more source

46, XY DSD (Disorder of Sex Development) : Diagnosis dan Tatalaksananya [PDF]

, 2021
isorder of Sex Development (DSD) is a congenital disorder that occurs in the development of chromosomes, gonads, and internal or external genital organ.
Suhartono, Roberto, Felicia, Mildi
core   +2 more sources

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

, 2012
No abstract ...
Sarafoglou, Kyriakie, Ahmed, S. Faisal
core   +1 more source

A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits [PDF]

, 2002
We tested the hypothesis that genes encoded on the sex chromosomes play a direct role in sexual differentiation of brain and behavior. We used mice in which the testis-determining gene (Sry) was moved from the Y chromosome to an autosome (by deletion of ...
Robin Lovell-Badge, De Vries, Geert, Auger, CJ, Lovell-Badge, R, Catherine J. Auger, Elka M. Scordalakes, Swain, A, Simerly, Richard B., Lovell-Badge, Robin, Richard B. Simerly, Amanda Swain, Arnold, Arthur P., Simerly, RB, Burgoyne, PS, Scordalakes, Elka M., Emilie F. Rissman, Geert J. De Vries, Liang-Yo Yang, Burgoyne, Paul S., Yang, Liang-Yo, Yang, L-Y, Rissman, EF, Rissman, Emilie F., Paul S. Burgoyne, De Vries, G, Arnold, AP, Arthur P. Arnold, Scordalakes, EM, Swain, Amanda, Auger, Catherine J.   +29 more
core   +1 more source

A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development

Journal of Biomedicine and Translational Research, 2019
Background: Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of ...
Nurin Aisyiyah Listyasari, Iit Fitrianingrum, Sultana MH Faradz   +2 more
doaj   +1 more source

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Frontiers in Genetics, 2022
Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused
Wei Zhang, Jiangfeng Mao, Xi Wang, Bang Sun, Zhiyuan Zhao, Xiaoxia Zhang, Min Nie, Min Nie, Xueyan Wu, Xueyan Wu   +9 more
doaj   +1 more source