Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.
Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input for atypical genitalia and who were then followed up to the age of 3 months. Cross-verification of the notification process was performed through regional genetics laboratories using karyotype as a surrogate marker to identify additional newborns with atypical genitalia.
Results: 81 neonates who satisfied the reporting criteria were identified through the clinicians and the laboratories providing a birth prevalence of 1 in 3,378 term births in Scotland that received specialist input for atypical genitalia. Of the 77 cases that completed the 3 month follow up, 49 (64%) presented within 24 hours of birth. Age at presentation ranged from birth to 28 days. Although the age at sex assignment ranged from birth to 14 days, in 51 of 77 infants (66%), sex assignment occurred at birth. Only 1 case was re-assigned and had a different sex at 3 months. Of the 59 infants with a karyotype with a Y-chromosome, 55 (93%) were assigned a male sex and the remainder female. During the first three months, specialist input from a neonatologist or a pediatrician, endocrinologist, surgeon and psychologist was reported in 74 (96%), 58 (75%), 50 (65%) and 9 (12%), respectively.
Conclusions: Atypical genitalia requiring specialist input within the first month of life is rare in term newborns and in only a third of these cases, sex assignment is delayed beyond birth. This study provides new clinical benchmarks for comparing and improving the delivery of care in centers that manage these complex conditions.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology