ESPE Abstracts (2016) 86 P-P1-369

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Accordingly Gender Assignment

Nathalia Gomes, Elaine Costa, Aline Zamboni, Mirian Nishi, Rafael Batista, Flávia Cunha, Marlene Inacio, Sorahia Domenice & Berenice Mendonca


Hospital das Clinicas of São paulo, São Paulo, Brazil


Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.

Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.

Method: Retrospective longitudinal study conducted at Hospital das Clinicas of São Paulo. We followed up 28 patients (11 assigned in the female and 17 in the male social sex) during a range of 2.7–26 years. Molecular diagnosis was performed by Sanger method and MLPA.

Results: At first evaluation, in the female social sex group, 5/9 patients had preserved testosterone production (3 came after puberty). In the male group, 8/14 patients had preserved testosterone production and 5 of them developed spontaneous puberty. Three prepubertal patients lost the capacity to produce testosterone during childhood. At adulthood, 3/5 patients maintained testosterone levels. Social sex change was observed in only two patients, one of each social sex group. There was no difference between social sex at adulthood and testosterone production. All patients were well adapted to social sex (64% had a steady partner and 76% had complete sexual intercourses). Gonadal tumor was observed only in patients gonadectomyzed after puberty (2 of 10 patients, one due to Frasier Syndrome and another with intra-abdominal gonad). Molecular diagnosis was possible in 11/28 cases: mutations were found in SRY, SF1, WT1, CBX2.2., MAPK3 and FGFR1.

Conclusion: Patients with 46XY PGD were well adapted to both social sexes at adulthood; testosterone production at puberty was preserved in 50% of the cases. Gonadal tumor was only observed after puberty (20%) in patients with additional factors for the development of gonadal tumor. Molecular diagnosis was reached in 37% of the patients by Sanger method.

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