Normal male sexual differentiation and aetiology of disorders of sex development

RA Rey, RP Grinspon - Best Practice & Research Clinical Endocrinology & …, 2011 - Elsevier
Fetal sex development consists of three sequential stages: a) the undifferentiated stage,
when identical primitive structures develop in the XY and XX embryos, b) gonadal …

Disorders of sexual development: current status and progress in the diagnostic approach

M García-Acero, O Moreno, F Suárez, A Rojas - Current urology, 2020 - karger.com
Disorders of sexual development (DSD) are conditions with an atypical chromosomal,
gonadal or phenotypic sex, which leads to differences in the development of the urogenital …

No way out of the binary: A critical history of the scientific production of sex

V Sanz - Signs: Journal of Women in Culture and Society, 2017 - journals.uchicago.edu
This article examines the concept of sex as a biological “fact” in Western science from the
eighteenth century to the present and, in particular, how the binary definition of sex has been …

Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis

M Moshiri, T Chapman, PY Fechner, TJ Dubinsky… - Radiographics, 2012 - pubs.rsna.org
Various disorders of sex development (DSD) result in abnormal development of genitalia,
which may be recognized at prenatal ultrasonography, immediately after birth, or later in life …

[HTML][HTML] Monogenic disorders of adrenal steroidogenesis

ES Baranowski, W Arlt, J Idkowiak - Hormone research in paediatrics, 2018 - karger.com
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting
steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches …

Sexual developmental disorders in pediatrics

G Profeta, G Micangeli, F Tarani… - La Clinica …, 2022 - clinicaterapeutica.it
Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in
an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 …

[HTML][HTML] 46, XX DSD: developmental, clinical and genetic aspects

C Alkhzouz, S Bucerzan, M Miclaus, AM Mirea… - Diagnostics, 2021 - mdpi.com
Differences in sex development (DSD) in patients with 46, XX karyotype occur by foetal or
postnatal exposure to an increased amount of androgens. These disorders are usually …

Gonadal development and tumor formation at the crossroads of male and female sex determination

M Cools, KP Wolffenbuttel, SLS Drop… - Sexual …, 2011 - karger.com
Malignant germ cell tumor (GCT) formation is a well-known complication in the management
of patients with a disorder of sex development (DSD). DSDs are defined as congenital …

Review and management of 46, XY disorders of sex development

EZ Massanyi, HN DiCarlo, CJ Migeon… - Journal of pediatric …, 2013 - Elsevier
Disorders of Sex Development (DSD) among 46, XY individuals are rare and challenging
conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and …

The current state of diagnostic genetics for conditions affecting sex development

D Alhomaidah, R McGowan, SF Ahmed - Clinical Genetics, 2017 - Wiley Online Library
Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46,
XX DSD where the cause is usually clear, identification of a cause of XY DSD is often …