DSDs: genetics, underlying pathologies and psychosexual differentiation
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 …
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 …
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 …
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 …
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 …
dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a …
Disorders of sex development: effect of molecular diagnostics
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …
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 …
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 …
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 …
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
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 …
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for …