ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2019) 16 6.14 | DOI: 10.1530/ey.16.6.14


J Clin Endocrinol Metab. 2019 Feb 1;104(2):390–396.

doi: 10.1210/jc.2018-01105. PubMed PMID: 30247609.

Polymorphisms in sex hormone genes have been described in gender dysphoric individuals with inconsistent findings. In this case-control study of 380 trans women and 344 control males, functional variants in 12 sex hormone signaling genes were studied. Significant associations were found between gender dysphoria and polymorphisms in ERα, SRD5A2, STS and SULT2A1. Some allele combinations were also overrepresented, indicating that oligogenic inheritance may play a role.

Earlier it was thought that gender dysphoria in transgender people results only from psychological conditions, but newer studies suggest that endocrine, neurobiological and genetic factors are involved. The current study supports the hypothesis that genetic variants that alter sex hormone signaling may thereby change the typical sexual differentiation of the developing brain, which may then lead to gender dysphoria in later life. Further evidence for a heritable contribution to gender dysphoria comes from twin studies, in which one third of twin pairs are concordant for gender dysphoria. On the other hand, inconsistencies between alike genetic studies in gender dysphoria have been explained by small sample size of such studies and by the heterogenous character of the transgender population in terms of age at onset of gender dysphoria and of sexual orientation.

Thus, it seems that DSD and transsexualism may share more common grounds in etiology than was earlier thought. But further studies are needed to robustly demonstrate the role of genetics, hormones and other factors that contribute towards gender dysphoria in transgender individuals.

Further recommended reading on same topic in last year:

Fernández R, Guillamon A, Cortés-Cortés J, Gómez-Gil E, Jácome A, Esteva I, Almaraz M, Mora M, Aranda G, Pásaro E. Molecular basis of Gender Dysphoria: androgen and estrogen receptor interaction. Psychoneuroendocrinology. 2018 Dec;98:161–167.

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