Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development

V Kulkarni, SK Chellasamy, S Dhangar… - Molecular Human …, 2023 - academic.oup.com
Disorders of sex development (DSD) are a group of clinical conditions with variable
presentation and genetic background. Females with or without development of secondary …

[HTML][HTML] Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

Y Dong, Y Yi, H Yao, Z Yang, H Hu, J Liu, C Gao… - BMC medical …, 2016 - Springer
Background The identification of causative mutations is important for treatment decisions
and genetic counseling of patients with disorders of sex development (DSD). Here, we …

Phenotype and genetic characteristics in 20 Chinese patients with 46, XY disorders of sex development

GY Zheng, GM Chu, PP Li, R He - Journal of Endocrinological …, 2023 - Springer
Purpose 46, XY disorders of sex development (DSD) is the most complicated and common
type of DSD. To date, more than 30 genes have been identified associated with 46, XY DSD …

Novel pathogenic mutations in disorders of sex development associated genes cause 46, XY complete gonadal dysgenesis

M Xue, X Wang, C Li, M Zhao, F He, X Li - Gene, 2019 - Elsevier
Disorders of sex development (DSDs) are congenital conditions in which chromosomal,
gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in …

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes

H Wang, L Zhang, N Wang, H Zhu, B Han, F Sun… - Human genetics, 2018 - Springer
Disorders of sexual development (DSD) are rare congenital conditions in which
chromosomal, gonadal, or anatomical sex is atypical. Currently, less than 20% of patients …

Exome sequencing for the diagnosis of 46, XY disorders of sex development

RM Baxter, VA Arboleda, H Lee… - The Journal of …, 2015 - academic.oup.com
Context: Disorders of sex development (DSD) are clinical conditions where there is a
discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of …

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

I Mazen, M Mekkawy, A Kamel… - American Journal of …, 2021 - Wiley Online Library
Disorders/differences of sex development (DSD) comprise a group of congenital disorders
that affect the genitourinary tract and usually involve the endocrine and reproductive system …

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation

M Fernández‐Cancio, L Audí, P Andaluz… - … journal of andrology, 2011 - Wiley Online Library
One hundred and forty‐six index patients with 46, XY DSD in whom gonads were confirmed
as testes were consecutively studied for a molecular diagnosis during the period 2002 …

Disorders of sex development

SF Witchel - Best Practice & Research Clinical Obstetrics & …, 2018 - Elsevier
Highlights•Sex development depends on spatio-temporal sequence & coordination of
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …

[HTML][HTML] SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic …

R Hersmus, H Stoop, E Turbitt, JW Oosterhuis… - BMC medical …, 2012 - Springer
Background The presence of the Y-chromosome or Y chromosome-derived material is seen
in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development …