SFEBES2009 Poster Presentations Reproduction (23 abstracts)
Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from The Scottish Genital Anomaly Network Register
Martina Rodie 1 , Ruth McGowan 2 , Amalia Mayo 3 , Paula Midgley 4 , Christopher Driver 5 , Maureen Kinney 6 , David Young 7 & S Faisal Ahmed 1
1Department of Child Health, Royal Hospital for Sick Children, University of Glasgow, Glasgow, UK; 2Department of Medical Genetics, Duncan Guthrie Institute, Royal Hospital for Sick Children, Glasgow, UK; 3Department of Paediatric Endocrinology, Royal Aberdeen Children’s Hospital, Aberdeen, UK; 4Department of Child Life and Health, Royal Hospital for Sick Children, University of Edinburgh, Edinburgh, UK; 5Department of Paediatric Surgery, Royal Aberdeen Children’s Hospital, Aberdeen, UK; 6Managed Clinical Networks Office, Royal Hospital for Sick Children, Glasgow, UK; 7Department of Mathematics and Statistics, University of Strathclyde, Glasgow, UK.
Background: The Scottish Genital Anomaly Network (SGAN) is a national managed clinical network for patients with a suspected disorder of sex development (DSD). The SGAN register contains data on patients with DSD in Scotland. Factors that influence the decision to perform a karyotype in these patients are unclear.
Objectives: To explore the SGAN register to study the factors that influence the decision to perform a karyotype.
Methods: 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 under-masculinisation (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 113/498 (23%) cases overall and in 33/306 (11%) cases of NSDUM. Out of 125 cases where an EMS could be calculated, the median EMS (5th, 95th) 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, karyotype was performed for 6/90 (7%) cases from Aberdeen and 107/342 (31%) cases from Glasgow. Logistic regression analysis tested for the independent predictors of a karyotype being checked – EMS was the sole predictor.
Conclusions: 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.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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