ESPE Abstracts (2015) 84 P-3-806

ESPE2015 Poster Category 3 DSD (31 abstracts)

The Advent of Disorders of Sexual Differentiation Team at a Major Teaching Nigeria: Impact on Patient Management and Outcome

Olumide Jarrett a , Taiwo Lawal b , Oluyomi Esan c , Adenike Sofoluwe d & Oladapo Olayemi e


aDepartment of Paediatrics, University College Hospital, Ibadan, Nigeria; bDepartment of Paediatric Surgery, University College Hospital, Ibadan, Nigeria; cDepartment of Psychiatry, University College Hospital, Ibadan, Nigeria; dDepartment of Radiology, University College Hospital, Ibadan, Nigeria; eDepartment of Obstetrics and Gynaecology, University College Hospital, Ibadan, Nigeria


Background: Disorders of sexual differentiation (DSD) constitute a great challenge in patient management especially in a low resource settings with inadequate manpower in various specialities, as it involves critical reasoning, careful evaluation, multidisciplinary involvement and making difficult decisions such as rearing sex and gender issues.

Aim: To highlight the importance of forming a DSD team in the management of these children and to document our initial experience in the Paediatric Endocrine/Genetic unit of UCH, Ibadan, Nigeria.

Method: The DSD team of the hospital was formed in the year 2010 with members from Paediatric endocrinology, Paediatric surgery, Psychiatry, Radiology and Obstetrics & Gynaecology and held jointly bimonthly clinics. We present patients with DSD managed in the unit between 2010 and 2014. Information was obtained from patients’ records and from the Endocrinology register. Details of bio data, clinical history, investigations, treatment and outcome were retrieved.

Results: The team saw 13 patients during the period, aged one day to 13 years. Four patients did not have palpable gonads on examination and were raised as females. Eleven patients (85%) had pelvic ultrasound scan done to visualise internal organs while, karyotype could only be evaluated in three (23%) patients who could afford to pay. In the two patients (15%) that had mutational analysis done, results confirmed a diagnosis of Partial androgen insensitivity syndrome (PAIS) and 5α reductase deficiency respectively. Interventional surgery was performed in five while two await surgery. Commonest DSD was congenital adrenal hyperplasia (CAH) seen in three patients (23%). There were two deaths while one case of CAH defaulted.

Conclusion: The presence of a DSD team on ground has caused an integrated approach to the management of these children despite the intense limitations in terms of inability to get important hormonal and genetic tests done in every case because of financial constraints.

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