ESPE Abstracts

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.

Aim: The aim of this study is to determine clinical, biological and outcome of infant, children and adolescents attended to the endocrine unit of the central hospital of army for management of 46 XY DSD.

Method: All the patients attended to our unit from 2009-2022 for management of 46 XY DSD benefited clinical exam and classified according to the external masculinization score (EMS). Karyotype, AMH and androgens were analyzed in all the patients. HCG test was done in children and adolescents. Ultrasound and genitography evaluate internal genital tract. Genetic analyze was done only in two patients.

Results: 30 patients were attended to our unit, mean initial age was 60,66 ± 110 months, sex assignation was male in 76,7% of patients. Familial history of DSD was found in 25% of the studied cases. 17,8% of the studied patients born SGA and one mother took progesterone medication during pregnancy. Consanguinity was found in 35,7 % of the studied cases. Mean EMS score was 6,81 ± 2,70. It was highest in patients with PAI than the others etiologies (P<0,01). Etiologies of 46 XY DSD in our study termed PAI in 46,7%, gonadal dysgenesis in 13,3 %, PMDS in 13,3%, 5α R deficiency in 10%, vanishing testis in 6,7%, TAI in 3,3%, 17β OH ase deficiency in 3,3% and Leydig cells agenesis in 3,3%. Genetic evaluation found WT1 mutation in one GD and AMH mutation c.368-371del, Arg123Profs*15. One patient was reassigned as male at the age of 11 months and 68% of the patients benefited a surgical refection of their genital organs at mean age of 56,4 ± 57,5 months. Androgens were prescribed in 32% of male assigned patients.

Conclusion: This study reveals a delayed diagnosis, a significant rate of consanguinity and family history of DSD. PAI is the most common diagnosis. We note a low rate of reassignment. Masculinization surgery was necessary in the majority of patients.