ESPE Abstracts (2019) 92 P3-221

Gonadal Dysgenesis, 46 XY About 5 Familial Cases

Wajdi Safi1, Faten Hadj Kacem1, Fatma Ben Mrad1, Imene Gargouri1, Wafa Belabed1, Nabila Rekik1, Nadia Charfi1, Bochra Ben Rhouma2, Mouna Mnif Feki1, Neila Belghith2, Mohamed Abid1


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.

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