ABSTRACT
Disorders of sexual differentiation are congenital pathologies characterized by atypical development of genetic, gonadal, or phenotypic sex. These are caused by the alteration of any primordial phases of sexual development and may be evident at birth or in the later stage of life. Here, we present the case of a nine-year-old Peruvian school patient who has female gender assigned at birth, has no contributory antecedents and was found to have clitoromegaly and hypospadia on physical examination. In the blood tests, anti-Müllerian hormone and testosterone were found, and 46 XY karyotype and sex-determining region Y (SRY) genes were present. On abdominal ultrasound, testicles were found in the inguinal canals. The human chorionic gonadotropin (HCG) stimulation test was conducted, which allowed us to rule out defects in testosterone biosynthesis and enzyme defects in dihydrotestosterone production; the main suspected diagnosis was partial androgen insensitivity syndrome (PAIS). A multidisciplinary medical meeting was held, accepting the patient's desire to opt for the male gender, after acceptance by the parents. Thus, the patient underwent bilateral orchidopexy and genitoplasty. He is currently receiving therapy with testosterone, with an adequate response to the treatment and the molecular study confirmed the androgen-receptor gene mutation. In conclusion, we highlight the importance of a timely multidisciplinary diagnosis and management of disorders of sexual differentiation to avoid premature gender assignment and major social and family repercussions that it implies.
