5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.

Purpose: Gender assignment represents one of the most controversial aspects of the clinical management of individuals with Differences of Sex Development, including 5α-Reductase-2 deficiency (SRD5A2). Given the predominant female appearance of external genitalia in individuals with SRD5A2 deficiency, most of them were assigned to the female sex at birth. However, in the last years the high rate of gender role shift from female to male led to recommend a male gender assignment.

Methods: We here describe two cases of subjects with SRD5A2 deficiency assigned as females at birth, reporting their clinical histories and psychometric evaluations (Body Uneasiness Test, Utrecht Gender Dysphoria Scale, Bem Sex-Role Inventory, Female Sexual Distress Scale Revised, visual analogue scale for gender identity and sexual orientation) performed at the time of referral at the Florence Gender Clinic.

Results: Both patients underwent early surgical interventions without being included in the decision-making process. They had to conform to a binary feminine gender role because of social/familiar pressure, with a significant impact on their psychological well-being. Psychometric evaluations identified clinically significant body uneasiness and gender incongruence in both subjects. No sexually related distress and undifferentiated gender role resulted in the first subject and sexually related distress and androgynous gender role resulted in the second subject.

Conclusions: The reported cases suggest the possibility to consider a new approach for gender assignment in these individuals, involving them directly in the decision-making process and allowing them to explore their gender identity, also with the help of GnRH analogues to delay pubertal modifications.