ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2019) 16 6.8 | DOI: 10.1530/ey.16.6.8

ESPEYB16 6. DSD and Gender Dysphoria Gender Dysphoria in DSD (2 abstracts)

6.8. Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

Loch Batista R , Inácio M , Prado Arnhold IJ , Gomes NL , Diniz Faria JA , Rodrigues de Moraes D , Frade Costa EM , Domenice S & Bilharinho Mendonça B



J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.

doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241

This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender role and sexual orientation) in 144 individuals older than 18 years with 46,XY. Only prenatal androgen exposure showed significant correlations with all three adult psychosexual outcomes. No such correlation was found for prenatal exposure to estrogens, external genital phenotype at birth, sex of rearing and age at gonadectomy (pre- versus postpubertal) representing sex hormone exposure during puberty.

In this study, individuals were mean age 35 years (range 17–56), most 46,XY DSD individuals were raised female, e.g. 30/32 subjects with 5aRD2 deficiency. This has certainly changed over the last decade and many more 46,XY DSD subjects are now raised male. Thus, some of the observations may be specific to the study group.

Nevertheless, this study supports the following hypotheses: a) the brain is a sexual organ, b) prenatal androgen exposure enhances male-type psychosexual development, but c) undervirilization of the external genitalia does not necessarily correspond to psychosexual development; d) prenatal androgen exposure seems to have a more potent effect than pubertal hormones on psychosexual development, e) estrogens although important for male sexual development of the brain are insufficient to promote the male phenotype, and f) gender issues are more frequently seen in all types of 46,XY DSD. Future longitudinal studies on larger DSD cohorts such as collected in the I-DSD registry will inform similar and more outcomes for better DSD care.

Reference: 1. Berenbaum SA, Beltz AM. How Early Hormones Shape Gender Development. Curr Opin Behav Sci. 2016 Feb;7:53–60. PMID:26688827.

Article tools

My recent searches

No recent searches.