Towards improved genetic diagnosis of human differences of sex development

EC Délot, E Vilain - Nature Reviews Genetics, 2021 - nature.com
Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Disorders of sex development/intersex: gaps in psychosocial care for children

MM Ernst, LM Liao, AB Baratz, DE Sandberg - Pediatrics, 2018 - publications.aap.org
Access to psychosocial care is currently inadequate for patients and families affected by a
disorder of sex development (DSD; some individuals prefer the terms “intersex” or …

[HTML][HTML] Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

C Kouri, G Sommer, IM de Lapiscina, RN Elzenaty… - …, 2024 - thelancet.com
Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

Disorders of sex development in a large Ukrainian cohort: clinical diversity and genetic findings

E Globa, N Zelinska, Y Shcherbak… - Frontiers in …, 2022 - frontiersin.org
Background The clinical profile and genetics of individuals with Disorders/Differences of Sex
Development (DSD) has not been reported in Ukraine. Materials and Methods We …

Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46, XY DSD

F Buonocore, O Clifford-Mobley… - Journal of the …, 2019 - academic.oup.com
Context The genetic basis of human sex development is slowly being elucidated, and> 40
different genetic causes of differences (or disorders) of sex development (DSDs) have now …

A massive alteration of gene expression in undescended testicles of dogs and the association of KAT6A variants with cryptorchidism

M Stachowiak, J Nowacka-Woszuk… - Proceedings of the …, 2024 - National Acad Sciences
Cryptorchidism is the most common form of disorder of sex development in male dogs, but
its hereditary predisposition is poorly elucidated. The gonadal transcriptome of nine …

Navigating surgical decision making in disorders of sex development (DSD)

M Gardner, DE Sandberg - Frontiers in pediatrics, 2018 - frontiersin.org
Surgical management of disorders of sex development (DSD) is associated with contentious
debate between and within stakeholder communities. While the intent of surgical …

[HTML][HTML] Disorders of sex development: Genetic characterization of a patient cohort

M García-Acero, O Moreno-Niño… - Molecular …, 2020 - spandidos-publications.com
Disorders of sex development (DSDs) are congenital conditions in which the external
appearance of the individual does not coincide with the chromosomal constitution or the …

A clinical algorithm to diagnose differences of sex development

NY León, AP Reyes, VR Harley - The Lancet Diabetes & …, 2019 - thelancet.com
The diagnosis and management of children born with ambiguous genitalia is challenging for
clinicians. Such differences of sex development (DSDs) are congenital conditions in which …

Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes, E Alkhunaizi, P Kruszka, LC Pyle… - The American Journal of …, 2020 - cell.com
In two independent ongoing next-generation sequencing projects for individuals with
holoprosencephaly and individuals with disorders of sex development, and through …