Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development.
OBJECTIVE
The diagnosis of children with disorders of sex development (DSD) requires a karyotype, different biochemical and radiological investigations in the context of a multidisciplinary team. The aim of this study was to compare the diagnostic accuracy of laparoscopy (L) versus ultrasonography (US) in the assessment of children with complex DSD.


METHODS
We retrospectively examined the theatre database searching for children with DSD who underwent laparoscopic surgery from 1999 to 2011. The medical and radiological records were reviewed.


RESULTS
Eighteen patients were identified. Age at diagnosis ranged from birth to 14 years (mean 2.5 years). There were seven patients with 46XY dysgenetic testicular DSD (4 mosaic Turner, 3 mixed gonadal dysgenesis), seven patients with 46XY non-dysgenetic testicular DSD (4 persistent Mullerian duct syndrome, 2 complete androgen insensitivity syndrome, one unknown), two patients with ovotesticular DSD, one patient with 46XX DSD (congenital adrenal hyperplasia) and one patient with 46XY DSD complete sex reversal. Fifteen underwent ultrasonography prior to laparoscopy. Both modalities identified Mullerian structures in seven (47 %) patients, in one (7 %) patient US and L confirmed the absence of Mullerian structures, while in six (40 %) patients there was discordance, with US failing to visualize pelvic Mullerian structures. In the last patient with 46XY non-dysgenetic testicular DSD, the rectum was thought to be a dilated uterus on ultrasonography.


CONCLUSIONS
Pelvic ultrasonography failed to identify Mullerian structures in 40 % of patients with complex DSD. On the contrary, laparoscopy allowed excellent visualization of pelvic structures and gonads in children with complex DSD.
Department of Urology, Royal Hospital for Sick Children, Dalnair Street, Glasgow G3 8SJ, UK. mairisteven@doctors.org.uk
Mairi
M
Steven
S
S
O'Toole
J P H
JP
Lam
G A
GA
MacKinlay
S
S
Cascio
D000293:Adolescent; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010535:Laparoscopy; D009095:Mullerian Ducts / Q000000981:diagnostic imaging / Q000473:pathology; D015203:Reproducibility of Results; D012189:Retrospective Studies; D014463:Ultrasonography