Endocrine Abstracts

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.

Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated malformations. An external masculinisation score(EMS) was calculated in cases with detailed records of genital examination.

Results: Out of the 498 cases on the register, 306(61%) were diagnosed as having non-specific disorder of undermasculinisation(NSDUM) and in 119(24%) the diagnosis was unclear; 396(80%) cases were assigned male sex; 79(16%) were assigned female and in 23(4%) cases data were unavailable regarding sex of rearing. Karyotype was reported to be performed in 71/498(14%) cases overall and in 33/306(11%) cases of NSDUM. Out of 125 cases where an EMS could be calculated, the median EMS(5^th,95^th) of cases who had a karyotype and who did not have a karyotype was 6.5(0,11) and 11(5,11), respectively (P<0.0001). Associated malformations were recorded to be present in 35/498(7%) cases, and 19(54%) of these cases had a karyotype performed. Comparing the two centres with the highest number of cases in the register, report of a karyotype was present in the register for 6/90(7%) cases from Aberdeen and 65/342(19%) cases from Glasgow. The median EMS scores of these cases in Aberdeen and Glasgow were 8.5 (1,11) and 7.5 (0,11), respectively.

Summary: These data represent the first attempt at benchmarking the decision to check a karyotype in infants with suspected DSD. Whilst this decision may be related to the complexity of the genital anomaly, there are other factors that may influence this, and these require further exploration through more rigorous systems for data collection.