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

Author(s)

Batista, Rafael Loch ^[1] ; Inacio, Marlene ^[2] ; Prado Arnhold, Ivo Jorge ^[1] ; Gomes, Nathalia Lisboa ^[1] ; Diniz Faria, Jr., Jose Antonio ^[1] ; de Moraes, Daniela Rodrigues ^[1] ; Frade Costa, Elaine Maria ^[1] ; Domenice, Sorahia ^[1] ; Mendonca, Berenice Bilharinho ^[1]

Affiliation

^[1] Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Lab Hormonios & Genet Mol LIM, BR-05403000 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, Hosp Clin, Psychol Dept, BR-05403000 Sao Paulo - Brazil

• Document type: Journal article
• Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 104, n. 4, p. 1160-1170, APR 2019.
• Web of Science Citations: 1

Abstract

Context: In 46,XY disorders of sexual development (DSD) patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure and external genital virilization are considered to influence human psychosexual development, but their roles not completely understood yet. Design: A total of 144 individuals (18 to 60 years of age) with a clinical/molecular diagnosis of 46,XY DSD from a single tertiary center were enrolled. Psychosexual outcomes (gender role, gender identity, and sexual orientation) were assessed using questionnaires and psychological test. The Sinnecker score was used for genital virilization measurement. Prenatal androgen exposure was estimated according to 46,XY DSD etiology. Results: We found a positive association between prenatal androgen exposure and male psychosexual outcomes. Alternatively, prenatal estrogen exposure, age of gonadectomy, and the degree of external genital virilization did not influence any psychosexual outcome. There were 19% (n = 27) with gender change, which was associated with prenatal androgen exposure (P < 0.001) but not with the external genital virilization. The median age of gender change was 15 years, but most of the patients reported the desire for gender change earlier. Conclusions: Prenatal androgen exposure influenced psychosexual development in 46,XY DSD favoring male psychosexuality in all psychosexual outcomes, whereas the degree of external genital virilization did not influence these outcomes. The organizational effect of sexual steroids on psychosexuality at puberty appears to be weak in comparison with the prenatal effects. Prenatal androgen exposure also influenced female-to-male gender change frequency. All 46,XY DSD conditions with prenatal androgen exposure must be followed for gender issues in their management. (AU)

• FAPESP's process: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine
• Grantee: Berenice Bilharinho de Mendonça
• Support Opportunities: Research Projects - Thematic Grants