Genetic testing of XY newborns with a suspected disorder of sex development
M Alimussina, LA Diver, R McGowan… - Current Opinion in …, 2018 - journals.lww.com
Considering that children and adults with DSD may be at risk of several comorbidities a
clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not …
clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not …
Understanding the genetic aetiology in patients with XY DSD
Background Disorders of sex development (DSD) consist of a wide range of disorders and
are commoner in those with an XY karyotype. In over half of these cases who have a 46, XY …
are commoner in those with an XY karyotype. In over half of these cases who have a 46, XY …
Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre
G Costagliola, M Cosci O di Coscio, B Masini… - Journal of …, 2021 - Springer
Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical
conditions with variable genetic background; correct diagnosis is often difficult, but it permits …
conditions with variable genetic background; correct diagnosis is often difficult, but it permits …
The use of genetics for reaching a diagnosis in XY DSD
Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …
difference or disorder of sex development (DSD). This is especially the case in XY DSD …
The current state of diagnostic genetics for conditions affecting sex development
Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46,
XX DSD where the cause is usually clear, identification of a cause of XY DSD is often …
XX DSD where the cause is usually clear, identification of a cause of XY DSD is often …
46, XY disorders of sex development: the use of NGS for prevalent variants
QG Xie, P Luo, K Xia, ZQ Li, Z Xu, C Su, CH Deng - Human Genetics, 2022 - Springer
Abstract 46, XY disorders of sex development (DSD) present with diverse phenotypes and
complicated genetic causes. Precise genetic diagnosis contributes to accurate …
complicated genetic causes. Precise genetic diagnosis contributes to accurate …
Integrating clinical and genetic approaches in the diagnosis of 46, XY disorders of sex development
Z Kolesinska, J Acierno Jr, SF Ahmed… - Endocrine …, 2018 - ec.bioscientifica.com
Objective: 46, XY differences and/or disorders of sex development (DSD) are clinically and
genetically heterogeneous conditions. Although complete androgen insensitivity syndrome …
genetically heterogeneous conditions. Although complete androgen insensitivity syndrome …
Disorders/differences of sex development presenting in the newborn with 46, XY karyotype
S Bertelloni, N Tyutyusheva, M Valiani… - Frontiers in …, 2021 - frontiersin.org
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions, resulting in discordance between an individual's sex chromosomes, gonads …
conditions, resulting in discordance between an individual's sex chromosomes, gonads …
The XY female
L Michala, SM Creighton - Best practice & research Clinical obstetrics & …, 2010 - Elsevier
Sexual differentiation depends upon a series of complex events that leads to the
differentiation of gonads into testicular tissue and the production and action of androgens on …
differentiation of gonads into testicular tissue and the production and action of androgens on …
The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
NAM Al-Jurayyan, SDA Al Issa… - Journal of Pediatric …, 2015 - degruyter.com
Background: The term disorders of sex development (DSD) includes congenital conditions
in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum …
in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum …