ESPE Abstracts (2016) 86 P-P2-386

High Prevalence of SGA in Patients with Disorders of Sexual Development, Especially Idiopathic 46,XY DSD

Asmahane Ladjouzea, Ourida Taleba, Lila Kedjia, Abdeljalil Maoudja, Karima Berkouka, Manoubia Bensminaa, Rawda Abouraa, Yasmine Ouarezkic, Pascal Philibertb, Tahar Ananea, Charles Sultanb & Abdenour Larabaa

aDepartment of paediatrics, CHU Bab el Oued, Algiers, Algeria; bLaboratoire d’endocrinologie, CHU Montpelier, Montpelier, France; cEPH Belfort, Algiers, Algeria

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.

Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.

Patients and methods: All patients referred for DSD to our endocrine clinic from December 2007 to December 2015 were included. They were investigated to determine the type of DSD (46,XY; 46, XX; or sex chromosome DSD) and where possible the precise aetiology based on clinical assessment, and hormonal, radiological and genetic investigations. SGA was defined as birthweight (BW) or length (BL) <10th centile according to the Audipog database. Statistical analysis was made using Epi-info7 and BiostaTGV.

Results: During the study period, 237 patients were referred with DSD, median (range) BW, BL and gestation: 3.1 (2.66–5) kg, 49.5 (38–57) cm and 40 (25–42) weeks. SGA was present in 83 (35%) infants, 45 (54%) of whom had BW <2500 g. The prevalence of SGA was higher in the groups with 46,XY DSD (47%) (n=48) and with sex chromosome DSD (44%) (n=7), than in the 46,XX DSD group (23.5%) (n=28) (P<0.01). In the 46,XY DSD group, the prevalence of SGA was particularly high in patients with syndromic DSD (89%) (n=8) and AR mutation-negative partial androgen insensitivity syndrome (54%) (n=27) (P<0.05). Within this latter group there was no difference in the prevalence of SGA according to the EMS score.

Conclusions: This study confirms the association between SGA and DSD, which appears especially strong in patients with idiopathic 46,XY DSD. The question remains as to whether there is a common genetic mechanism causing both DSD and SGA in 46,XY patients; or if the defect in prenatal exposure to androgens per se affects intrauterine growth.