Endocrine diseases in the newborn. The vision of a neonatologist

Abstract

Endocrine disorders in the neonate, even if rare, could lead, if undetected, to preventable death or lifelong neurological consequences. This paper reviews special situations when the neonatologist should investigate a possible endocrine deficiency. We discuss three possible scenarios: the neonate with dysmorphic features or malformations that suggest a syndrome associated with endocrine deficiency (usually of the pituitary gland or hypothalamic-pituitary axis), the infant with positive screening test (usually a positive screening test when investigations and treatment are urgent. Special attention is given to the trickiest situation when an endocrine disease could occur: an unusual presentation of a normal neonatal condition. Two situations are discussed: prolonged jaundice, in which hypothyroidism or ACTH deficiency should be investigated, and persistent and prolonged hypoglycemia when congenital hyperinsulinism could be the cause. We provide clues to the diagnosis and treatment of this condition. As a take-home message for the neonatologist, endocrine disorders are conditions that should be known and promptly recognized, especially in the case of unusual presentations of different neonatal pathologies.