Ambiguity of the external genitalia constitutes an emergency requiring evaluation by a medical team. Issues of prime importance to be dealt with are: 1) the pathogenetic mechanism involved, 2) the sex assignment, and 3) the timing of corrective surgery. Non-palpable gonads indicate an XX individual, virilized during fetal life from androgens originating from the mother or the fetal adrenal. In such cases assignment should be on the female sex. Palpable gonads denote an XY undervirilized individual. In such cases the diagnostic problem is more complex: Defects in gonadal differentiation, the synthesis of testosterone or DHT, and the action of androgens (AIS). A hCG stimulation test will facilitate the localization of the defect: A normal rise of testosterone and DHT with normal intermediate metabolites and absent uterus indicate AIS. Lack or poor rise of testosterone and of intermediate metabolites point to either LH receptor, SF1 or StAR defect. Impaired testosterone rise along with a rise of intermediate metabolites could indicate a lyase, 17a hydroxylase, 17b hydroxysteroid dehydrogenase or oxidoreductase defect. The sex assignment in an XY undervirilized neonate constitutes a real challenge. Neonates with severe AIS are raised as females. In the remaining neonates the decision is individualized using all available information. The parents should be fully informed and take part in the decision. However, the nomenclature to be used should be well selected and such stigmatizing terms as hermaphroditism or intersex should be avoided. Unfortunately, the protagonist in this team, namely the newborn, cannot participate in the final decision. Appropriate genital surgery should be scheduled as soon as possible. In conclusion, although no ideal solution exists to this problem, there is the optimal, and it is our task to uncover it. Finally, a harmonious liaison with the adult endocrinologist is one of the primary duties of the pediatric endocrinologist.
01 - 05 Apr 2006
European Society of Endocrinology