Endocrine Abstracts

Managing ambiguous genitalia in newborns requires a multidisciplinary approach, involving pediatric endocrinologists, geneticists, neonatologists, urologists, and psychologists. A DSD team provides individualized psychosocial support to families. A structured evaluation is crucial to identify the underlying cause and assess any associated health risks. Initial workup includes clinical, biochemical, and genetic investigations to guide diagnosis. The clinical evaluation includes a thorough history (maternal drug use, family history of disorders/differences of sexual development (DSD), unexplained neonatal deaths) and physical examination (including anogenital measurements). Urgent investigations should rule out life-threatening adrenal insufficiency in cases of suspected congenital adrenal hyperplasia (CAH), requiring immediate glucocorticoid (GC) and mineralocorticoid (MC) therapy. Biochemical tests include measurement of sex steroids, adrenal hormones, gonadotropins, and anti-Müllerian hormone (AMH) to assess gonadal function. Genetic testing, including karyotyping and next-generation sequencing panels, helps determine the molecular diagnosis, guiding management decisions. Treatment of children with adrenal insufficiency requires the immediate initiation of GC and MC replacement. Hormone therapy may also be required for androgen excess or deficiency at follow-up. Sex assignment involves shared decision-making with parents and a DSD team, considering long-term outcomes. Psychological support is essential. Surgical intervention remains controversial and is increasingly delayed to preserve bodily autonomy, with early surgery discouraged unless medically necessary. Long-term care consists of lifelong follow-up to ensure hormonal balance, fertility potential, and psychosocial well-being. Support from DSD network teams helps families navigate challenges, fostering acceptance and inclusivity. A comprehensive, ethical, and individualized approach ensures the best outcomes for children with ambiguous genitalia. In this MTE, the management of two teaching cases, one manifesting at birth and one presenting in prepuberty, will be discussed.