Gender Auto-perception, Psycho-social and Sexual Aspects in Patients with Disorders of Sex Development 46,XY Exposed to Low or Normal Testosterone Levels in the Prenatal Period

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 586-595-Reproductive Axis Determination, Development & Transgender Medicine
Basic/Clinical
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-592
Ari A oliveira Jr*1, Marlene Inacio1, Rita de Cassia Amaral1, Vinicius N. Brito1, Tania A Bachega1, Sorahia Domenice2, Maria Helena Palma Sircili1, Ivo J Arnhold1, Guiomar Madureira1, Elaine Maria Frade Costa2 and Berenice Bilharinho Mendonca1
1Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, 2Disciplina de Endocrinologia e Metabologia - Laboratório de Hormônios e Genética Molecular/ LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
The aim of this study was to evaluate the influence of exposure to normal or low levels of testosterone in the intrauterine life comparing the psycho-social and sexual behavior of patients 46,XY disorders of sex development (DSD) due to testosterone production defect with those of due to 5-α reductase 2 deficiency. Patients and methods: This is a retrospective study, which evaluated adult 46,XY DSD patients with ambiguous genitalia with male or female social sex, whose gender assignment at birth was female. We studied 53 patients with DDS 46, XY divided into two groups: Group 1: DSD due impaired testosterone production: 29 patients (7 with Leydig cell hypoplasia, 7 with partial gonadal dysgenesis, 1 with 3-βHSD2 deficiency, 6 with 17α-hydroxylase deficiency and 8 with 17β-HSD 3 deficiency). Group 2: 24 patients with 5α-RD 2 deficiency. The diagnosis was established by clinical, hormonal and imaging in all cases and, in most of them, by molecular studies. Patients were evaluated at different stages of treatment and followed in psychotherapy for variable periods of time. 42 patients underwent psychological evaluation and follow-up in the pre-and post-treatment, while 11 were referred from other hospitals and evaluated only in the postoperative period. The instruments used in psychological assessment were structured psychological interview and a questionnaire covering specific psychosocial and sexual aspects, including their self-perception of gender. Patients’ responses were compared according to social sex and also that kept the female sex social group that changed to male social sex. The association between categorical variables was tested in 2x2 contingency tables by Fisher's exact test or chi-square using SigmaStat software. Results: All patients were satisfied and identified with their social sex. We found a significant difference in the following aspects:

a)     males with 5α-RD2 deficiency had higher incidence of masturbation, erotic fantasies and fatherhood wish  (p>0.05)

b)    females with testosterone production defect have higher incidence of motherhood wish than 46,XY females with 5α-RD 2 deficiency (p<0.05)

c)    the number of marriages in the female social sex patients was significant higher in the patients from the first group (52%) than in the second group (0%). (p=0,003)

In conclusion, our findings indicate a possible influence of androgen exposure during prenatal life on social and sexual behavior of adult patients with 46,XY DSD.

Nothing to Disclose: AAO, MI, RDCA, VNB, TAB, SD, MHPS, IJA, GM, EMFC, BBM

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm