Endocrine Abstracts

Introduction: Mixed gonadal dysgenesis is an anomaly of sexual development, it is a rare pathology, associated with a numerical anomaly of the sex chromosomes resulting from mosaicism of the Y or X chromosome and leading to abnormal development of the gonads. The most common chromosomal formulas are 45X/46 XX, 45X/46XY, 46XX/47XXX, and 46XY/47XXY. The phenotype is variable, ranging from a completely feminine appearance of the external genitalia to masculine or ambiguous. The diagnosis is made by the study of the karyotype. Management is based on the search for associated anomalies, the evaluation of gonadal function on which the choice of sex is sometimes based. Long-term monitoring is necessary to look for malignant degeneration and replace hormonal deficiencies.

Reported cases: We report 5 cases presenting mosaicism whose clinical, biological and radiological characteristics are described in the table below:

Conclusion: Mixed gonadal dysgenesis is a rare pathology; in our serie, this condition represents 5% of desorders of sex development (DSD). The diagnosis is made during early childhood by the ambiguous appearance of the external genitalia and the small size in Turner syndrome, confirmed by the study of the karyotype. All cases were assigned to the female gender. The search for comorbidities is mandatory, and the risk of degeneration is not negligible, requiring regular monitoring and rigorous monitoring of tumor markers