Faculty

Lim Poi Giok

Practical approach to DSD

Disorder/Differences of Sex Development classification system was adopted as an umbrella expression to describe ‘congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical’. They are a complex condition with regard to diagnosis, management and sequelae thereby posing a significant challenge to the healthcare providers. It is mainly caused by a disruption in a complex network of gene regulation responsible for the development of testes, ovaries and genital tracts in the embryo.

Patients with DSD can present at any age to Paediatricians but often as a ‘medical emergency’ in a neonatal unit with ambiguous genitalia. The evaluation and management with neonates with ambiguous genitalia need to be dealt with great sensitivity, accuracy, and efficiency. The approach to these neonates/DSD patients need a coordinated care of a multidisciplinary team comprising of paediatric surgery/urology, neonatology, endocrinology, genetics, gynaecologist and psychiatry/psychologist. This is especially difficult during covid pandemic when there are barriers to access to healthcare and elective surgeries. Early identification of the molecular cause of a DSD can help clinicians in their management and treatment of the patient and counselling of the family but unfortunately these diagnostic tests remain out of reach to many.

This lecture summarises the normal development of the urogenital system, the genetics involved and provides a framework for a practical approach to reach a clinical diagnosis in patients with DSD.

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