Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.
Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parameters identified as important during initial management were assessed.
Results: Final diagnoses three virilised females with congenital adrenal hyperplasia, one male with a micropenis, eight males with bilateral impalpable testes (±hypospadias. Two patients were excluded due to multiple congenital abnormalities. The median (range) times for different parameters were as follows: 1 day (<13 days) to refer to the DSD team, 1 day (<14 days) to transfer to tertiary centre (for 8/12 regional patients), and 1 day (<14 days) to assessment by the DSD team. The time to send a sample for karyotype was 1 day (<16 days), with results returning in 3 days (18 days). Hormone investigations were taken at 34 days, but time to return was variable and poorly recorded. The times of sending the sample for karyotype were also poorly documented. The time taken to determine gender was 5 days (212 days). In three cases, gender was assumed before review by the DSD team. Communication with parents was always documented by the DSD team.
Conclusion: Strengths of current care include usually rapid referral, transfer and assessment by the DSD team. Areas to improve involve reducing time to send samples for karyotyping, documentation of sending and receiving blood tests and ensuring gender is not discussed before assessment and definitive testing. These aspects should be considered in the creation of national standards to improve overall patient care.
12 - 14 Nov 2014
British Society for Paediatric Endocrinology and Diabetes