Endocrine Abstracts

Introduction: The early management of atypical genitalia has been highlighted as being of critical importance by the UK-DSD guidance in 2011.

Objectives: To estimate the incidence of atypical genitalia requiring early specialist input in neonates and its clinical presentation and management.

Method: Prospective audit through the Scottish DSD network and the Scottish Paediatric Endocrine Group, between June 2013 and June 2014. Monthly emails were sent to senior clinician members to notify newborns ≥37 weeks gestation with atypical genitalia requiring specialist input in the previous calendar month and aged <4 weeks at presentation. Notified newborns were followed to 3 months age. Average monthly response rate was 72%. Cross-verification through regional genetics laboratories in Scotland was performed using karyotype as a marker to identify newborns with suspected DSD.

Results: 24 newborns were reported, of whom 15 were true positives. In addition, two cases were identified through cytogenetic laboratories. Amongst the nine false positives, four were born at gestation <37 weeks. The incidence of atypical genitalia requiring specialist input within the first month of birth, in term newborns in Scotland was 3/10 000. Of the 16 cases completed follow up, 10 (63%) presented within 24 h. Age at sex assignment ranged from birth to 4 days and 11 (69%) had sex assignment at birth. All continued to have same sex at 3 months. 9 (56%) were assigned male sex with XY karyotype. Of the seven girls, three were XY. A neonatologist, surgeon or endocrinologist was involved in 14 (87%), 13 (81%), and 11 (69%) of infants, respectively. Communication and provision of information was mainly through face-to-face discussion.

Conclusions: Atypical genitalia requiring specialist input and investigations within first month of life is a rare occurrence affecting one term newborn in every 3400 born in Scotland. Electronic targeted surveillance of members of closely collaborating clinical networks can be beneficial for auditing the management of rare conditions.