ESPE Abstracts

Introduction: DSDs encompass a heterogenous group of conditions associated with multiple medical and psychosocial challenges. There is a paucity of data from patients from relatively low resource settings, where difficulties faced and their management may differ based on the different socio-cultural background.

Objectives: To describe the underlying condition, presentation, medico-social issues, problems and challenges, and their management in a cohort of children and adolescents with DSD followed up at the University Paediatric Endocrine Clinic of the Faculty of Medicine, at the Lady Ridgeway Hospital for children, Sri Lanka.

Method: Clinical data of consenting patients with DSD registered at the clinic were collected onto data collection sheets during clinic visits and entered to an electronic database between 2018-2020. Ethics approval (EC– 18-092) was obtained from the Ethics Review Committee, Faculty of Medicine, Colombo.

Results: Among 111 individuals with DSD (mean age 12.5), 26 (23%) were children below 10 years of age and 85 (77%) were adolescents (aged 10- 22 years). Gender of rearing was female in 63 (57%) and male in 48 (43%). The commonest DSD type was 46 XY DSD (n=49, 44%), followed by 46 XX DSD 32% (n=34, 31%) and chromosomal DSD (n=15, 14%). Commonest underlying diagnoses were CAH (n=41, 37%) and Turner’s syndrome in (n=14,13%). Genetic diagnosis was available in 3 patients and majority of patients (n=56) lived outside the province where the centre was located in. More than half (n= 64, 58%) initially presented with ambiguous genitalia at birth and 9 (8%) had birth registered in the gender opposite that of rearing. 58 patients (52%) had undergone genital surgery either feminizing genitoplasty (n =3) or hypospadias repair +/- orchidopexy (n=20). Regarding issues faced by adolescents, spontaneous puberty was incongruent with gender of rearing in 3 patients, 5 had gynaecomastia and a quarter of all adolescents (n=21) needed pubertal induction.10 patients (9%) had received pubertal suppression with GnRH analogs (7 to suppress precious puberty, 3 to suppress secondary sexual characteristics incongruent with GR).

Discussion: The study elucidates the challenges encountered by patients with DSD of different age groups and the interventions provided at a relatively low resource healthcare setting. Whilst the patients had relatively good access to hormone replacement therapy, genital surgery and multi-disciplinary care; the lack of genetic facilities, legal support and absence of nearby centres remain prevalent issues hindering optimum patient outcome.