DSDs: genetics, underlying pathologies and psychosexual differentiation

VA Arboleda, DE Sandberg, E Vilain - Nature Reviews Endocrinology, 2014 - nature.com
Mammalian sex determination is the unique process whereby a single organ, the bipotential
gonad, undergoes a developmental switch that promotes its differentiation into either a testis …

Mammalian sex determination—insights from humans and mice

S Eggers, A Sinclair - Chromosome research, 2012 - Springer
Disorders of sex development (DSD) are congenital conditions in which the development of
chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad …

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

S Benko, CT Gordon, D Mallet… - Journal of medical …, 2011 - jmg.bmj.com
Background The early gonad is bipotential and can differentiate into either a testis or an
ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male …

Disorders of sex development (DSDs): an update

H Ostrer - The Journal of Clinical Endocrinology & Metabolism, 2014 - academic.oup.com
Context: Disorders of sex development (DSDs) may arise from genetic defects in testis or
ovary determination. Current analytical technologies and improved understanding of major …

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46, XY or 46, XX disorder of sex development

GJ Kim, E Sock, A Buchberger, W Just… - Journal of Medical …, 2015 - jmg.bmj.com
Background SOX9 mutations cause the skeletal malformation syndrome campomelic
dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a …

Disorders of sex development: effect of molecular diagnostics

JC Achermann, S Domenice, TASS Bachega… - Nature Reviews …, 2015 - nature.com
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …

Genetic control of testis development

R Sekido, R Lovell-Badge - Sexual Development, 2012 - karger.com
Sex determination refers to the decision of the bipotential early gonads to develop as either
testes or ovaries during embryogenesis. In mammals, a single genetic trigger involved in this …

SOX genes and their role in disorders of sex development

R Sreenivasan, N Gonen, A Sinclair - Sexual Development, 2022 - karger.com
SOX genesare master regulatory genes controlling development and are fundamental to the
establishment of sex determination in a multitude of organisms. The discovery of the master …

Malformation syndromes associated with disorders of sex development

JM Hutson, SR Grover, M O'connell… - Nature Reviews …, 2014 - nature.com
When embryological development of the internal and/or external genitalia is disrupted, the
patient presents with a disorder of sex development (DSD) in the neonatal period or …

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

VA Arboleda, H Lee, FJ Sánchez, EC Délot… - Clinical …, 2013 - Wiley Online Library
Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E.
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for …