Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.
Objective and hypotheses: Casuistics description of patients with MGD in our hospital.
Method: A retrospective analysis of medical records.
Results: We studied 15 patients. The age at first visit ranged from two weeks to 14.1 years, mean 19.9 months. Birth weights ranged from 1705 to 3400 g. Seven patients had no definite sex at first visit, four were female and four male. Of these, one patient was created in female sex. Among those of indeterminate sex, six were created as females and one as male. The karyotypes were: 45,X/46,XY in five patients, 45,X/46,X+marY in two patients, in addition to other mosaiscismos. The presence of Mullerian derivatives was reported in 14 patients. Upon examination of the external genitalia, 14 patients had perineal urethra. Falus size ranged between 1.5 and 3 cm, with presence of palpable gonads in four patients. The average response of testosterone after hCG stimulation was 409.5 ng/dl.
Conclusion: The DGM should be considered among the etiologies of genital ambiguity, despite the rare occurrence.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology