2018, Number 3
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ABSTRACTSex determination and differentiation require the balanced and sequential activation of transcription factors, signaling molecules, hormones and their receptors. The classification of ambiguous genitalia in patients is difficult because similar or identical phenotypes may have several etiologies. These disorders require medical attention to reach a definite diagnosis and decide the proper treatment. We present a case of a patient who was diagnosed prenatally with bilateral hydronephrosis, right testicle in the inguinal canal, left testicle in the abdominal cavity and penis; at birth, the genitalia were clearly ambiguous. Genetic, endocrine and urological tests were done to establish a diagnosis in order to proceed with a surgical correction of the ambiguous genitalia.
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006; 118 (2): e488-e500.