P-06-11 5alpha Reductase-2 Deficiency: Is Gender Assignment Recommended at Birth? Two Case Reports

Abstract

Steroid 5α-Reductase-2 (SRD5A2)deficiencyis anautosomal recessive form of 46,XY Differences of Sex Development (DSD). The phenotype may significantly differ within a wide spectrum of manifestations. The majority of individuals is raised as girl, since clitoromegaly represents the most frequent genital phenotype. However, profound virilization occurs at puberty and among those assigned as females is reported a high rate of gender role switch from female to male. We here describe two cases of patients with SRD5A2deficiency assigned as females at birth, reporting their clinical histories and psychometric evaluations at the time of the referral to Florence Gender Incongruence Unit. Both S. and M. were raised as girls after the decision of their parents for a female gender assignment. They both underwent early surgical interventions to normalize external genitalia and they consequently had to conform to a rigidly “feminine” gender role. They discovered their intersex condition only in late adolescence-adulthood and were not included in the decision-making process, resulting in significant impact on their quality of life. Psychometric evaluations identified clinically significant body uneasiness, medium-high level of Gender Dysphoria and gender variant identity in both subjects, no sexually related distress and undifferentiated gender role in the first case and sexually related distress and androgynous gender role in the second case.