ESPE Abstracts (2019) 92 P3-221

1Departement of Endocrinology, Hedi Chaker Hospital, Sfax, Tunisia. 2Department of Human Genetics, Sfax, Tunisia

Introduction: Sexual disorders 46 XY are responsible for a range of phenotypic disorders; from an ambiguous phenotype to a complete female phenotype. This is often a sporadic condition. In this context, we report 5 cases of gonadal dysgenesis, 46 XY belonging to the same family and particular phenotypic expression. this particular phenotype arise a question about the link between familial sexual differenciation disorders and the panel of genes involved in sexual differentiation.

Results: We repport 5 patients borned from a consanguineous marriage, presenting for a micropenis with bilateral cryptorchidis. The average age at diagnosis was 30.5 years(extreme:17-37). On examination, the phenotype was male without dysmorphia in all cases, with a penis size ranging from 1 to 2 cm (-3SD). A gynomastia (S5) was present in 4 cases, with palpable gonads at the inguinal level. Pelvic ultrasound confirmed the presence of two gonads in the inguinal position. The karyotype had shown a homogenous chromosomal formula compatible with a male genetic sex,type 46,XY. Hormonal exploration confirmed a low testosterone levels with an average at 0.02 ng/ml, and contrasting with high levels of gonadotropins: FSH, an average of 81 muI/ml (extremes:55-110); LH level at average of 29 muI/ml (extremes:9-47). The AMH assay and the biomolecular study of the genes involved in testicular differentiation are currently being carried out.

Conclusion: Sexual differentiation anomalies cover a broad spectrum of phenotypic and genotypic anomalies in a particular cohort because of the occurance of gonadal dysgenesis picture in 5 membres of the same family, and certainly involving one or more genes involved in the sexual differentiation cascade. Admittedly, advances in molecular biology will make a major contribution to the undestanding of phenotypic variability as well as the atypical aspects of gonadal dysgenesis.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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