46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

J Deng, H Zhang, C Li, H Huang, S Liu, H Yang… - Frontiers in …, 2020 - frontiersin.org
The present study describes the first prenatally diagnosed 46, XX testicular disorders of sex
development (46, XX testicular DSD) case with DMD gene mutation by integrated analyses …

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

S Ledig, O Hiort, L Wünsch… - European journal of …, 2012 - academic.oup.com
Objective Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD,
characterized by the coexistence of testicular and ovarian tissue in the same individual. In a …

[PDF][PDF] Prenatal diagnosis of 46, XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

F Lonardo, G Cantalupo, M Ciavarella… - Prenat. Diagn, 2009 - academia.edu
The routine prenatal diagnosis includes a standard cytogenetic study and a careful
evaluation of the fetus by one or more ultrasonographic scans. Usually there is a full …

Novel heterozygous genetic variants in patients with 46, XY gonadal dysgenesis

V Chauhan, VP Jyotsna, V Jain… - Hormone and …, 2017 - thieme-connect.com
46, XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the
presence of dysfunctional testes in genotypic males. The molecular etiology is not known in …

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex …

V Bertini, F Baldinotti, P Parma, N Tyutyusheva… - Genes, 2023 - mdpi.com
Disorders of sexual development (DSDs) encompass a group of congenital conditions
associated with atypical development of internal and external genital structures. Among …

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

A Ata, S Özen, H Onay, S Uzun, D Gökşen… - European journal of …, 2021 - Elsevier
Introduction Disorders of sex development (DSD) constitutes a group of congenital
conditions that affect urogenital differentiation and are associated with chromosomal …

Genetic evidence of the association of DEAH-box helicase 37 defects with 46, XY gonadal dysgenesis spectrum

TE Da Silva, NL Gomes, AM Lerário… - The Journal of …, 2019 - academic.oup.com
Abstract Context 46, XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders
with a wide phenotypic spectrum, including embryonic testicular regression syndrome …

Two males with SRY-positive 46, XX testicular disorder of sex development

S Gunes, R Asci, G Okten, F Atac, OE Onat… - Systems biology in …, 2013 - Taylor & Francis
The 46, XX testicular disorder of sex development (46, XX testicular DSD) is a rare
phenotype associated with disorder of the sex chromosomes. We describe the clinical …

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

S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

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

BQ Yu, ZX Liu, YJ Gao, X Wang, JF Mao… - Asian journal of …, 2021 - journals.lww.com
Abstract 46, XY disorders of sex development (DSD) is characterized by incomplete
masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian …