Caring for individuals with a difference of sex development (DSD): a consensus statement

M Cools, A Nordenström, R Robeva, J Hall… - Nature Reviews …, 2018 - nature.com
The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …

[HTML][HTML] Sex determination: why so many ways of doing it?

D Bachtrog, JE Mank, CL Peichel, M Kirkpatrick… - PLoS …, 2014 - journals.plos.org
Sex Determination: Why So Many Ways of Doing It? | PLOS Biology Skip to main content
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Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

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 …

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 …

Management of disorders of sex development

O Hiort, W Birnbaum, L Marshall, L Wünsch… - Nature Reviews …, 2014 - nature.com
The medical term disorders of sex development (DSDs) is used to describe individuals with
an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to …

Genetic control of typical and atypical sex development

AP Reyes, NY León, ER Frost, VR Harley - Nature Reviews Urology, 2023 - nature.com
Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …

Environmental influences on ovarian dysgenesis—developmental windows sensitive to chemical exposures

HKL Johansson, T Svingen, PA Fowler… - Nature Reviews …, 2017 - nature.com
A woman's reproductive health and ability to have children directly affect numerous aspects
of her life, from personal well-being and socioeconomic standing, to morbidity and lifespan …

[HTML][HTML] NR5A1 is a novel disease gene for 46, XX testicular and ovotesticular disorders of sex development

D Baetens, H Stoop, F Peelman, AL Todeschini… - Genetics in …, 2017 - Elsevier
Purpose We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two
sisters with 46, XX SRY-negative (ovo) testicular disorders of sex development (DSD) …

Incidence, prevalence, diagnostic delay, and clinical presentation of female 46, XY disorders of sex development

A Berglund, TH Johannsen, K Stochholm… - The Journal of …, 2016 - academic.oup.com
Context: The prevalence of phenotypic females with a 46, XY karyotype is low, thus current
knowledge about age and clinical presentation at diagnosis is sparse even for the most …