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Differences of sexual development and their clinical implications
Author(s) -
Davies Rhianna,
Davies Lowri,
Alleemudder Djavid,
MacDougall Jane
Publication year - 2020
Publication title -
the obstetrician and gynaecologist
Language(s) - English
Resource type - Journals
eISSN - 1744-4667
pISSN - 1467-2561
DOI - 10.1111/tog.12667
Subject(s) - disorders of sex development , multidisciplinary approach , psychosexual development , presentation (obstetrics) , natural history , broad spectrum , multidisciplinary team , psychology , medicine , developmental psychology , biology , nursing , genetics , surgery , social science , chemistry , sociology , combinatorial chemistry
Key content The term ‘differences of sex development’ (DSD) defines a wide spectrum of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Presenting at birth or puberty, or as primary subfertility, the precise diagnosis is difficult, the clinical management is controversial and multidisciplinary team care is imperative. Following reclassification of the nomenclature and numerous advances in the field of molecular genetics, our understanding of the aetiologies underpinning these conditions has expanded. While optimal management of DSD remains controversial, it is clear that individualised, patient‐centred and multidisciplinary care is paramount.Learning objectives To understand the basic science of sex determination and gonadal development under hormonal, environmental and genetic control. To understand the natural history, presentation and management options of DSD. To understand the manifold psychosexual and reproductive ramifications of DSD.Ethical issues Gender assignment, the fate of the gonads and timing of genital surgery remain controversial.