Diagnosis and treatment approach in newborn infants with ambiguous genitalia with sex development disorder: Turkish neonatal and pediatric endocrinology and diabetes societies consensus report

Abstract

Disorders of sex development are defined as conditions in which the chromosomal, gonadal, and anatomic sex is discordant. Patients usually present with atypical appearing genitals. In the assessment of neonates with disorders of sex development, first, it is important to determine whether this situation requires prompt evaluation, and then the karyotype, hormone levels, and underlying etiology should be determined as soon as possible. All these procedures should be performed in the guidance of a multidisciplinary team in reference centers. The physician should suspect and then perform a detailed history and physical examination because the physical examination of the infant is very important, and lastly plan the required laboratory and imaging procedures for the exact diagnosis. It is important not to be hurried in the choice of sex. The aim of this article, which includes the diagnostic and therapeutic approaches in infants with ambiguous genitalia, was to provide a common practice for all pediatricians.