Laparoscopic diagnosis and therapy of ambiguous internal genitalia

Abstract

The diagnosis and therapy of disorders of sexual differentiation face difficulties despite the rapide advances in molecular genetics and the various laboratory diagnostic possibilities, which are the basics of the diagnostics. Even the diagnostic imaging modalities, which have achieved great improvements in the past years can at time not provide all the necessary information regarding the anatomical status of the gonadal structures. Between 1995 and 1999 we carried out laparoscopy in 4 patients with intersexual gonads for further clarification of the anatomical situation and in order to decide what further surgical steps to take. All patients had gonadal dysgenesis with mosaic of the sex chromosomes. A standard laparoscopy with 5 mm instrument was performed. After examination of the internal genitalia, surgical intervention followed. One child was found to have immature testes with rudimentary gonads and Muellerian structures. 2 patients had streak gonads, which were removed. In one diagnostic laparoscopy a testis was found at the level of the right internal inguinal ring, which was pushed into the scrotum. The rudimentary gonad on the left side was removed. It can be concluded that standard laparoscopy can provide in children with ambiguous internal genital status exact information regarding the anatomical status. At the same time, necessary therapeutic measures can be undertaken.