Key Points Craniofacial malformations can impact swallowing, breathing, hearing, vision, speech, and development and for some neonates can result in life-threatening airway compromise. Early recognition and assessment of craniofacial conditions that include appropriate diagnostic studies, identification of associated health concerns,…
Key Points Neonatal hypoglycemia requires diagnostic consideration and urgent management to prevent recurrent hypoglycemia and avoid neurologic injury. Neonatal metabolism in the first days of life reflects a transition from the passive glucose consumption of the fetus to the active…
Key Points Appropriate thyroid hormone function is essential for normal neurodevelopment in infancy and childhood. Hypothyroidism in the first year of life can result in significant deleterious effects on growth and neurologic injury. Delays in treating congenital hypothyroidism (CH) is…
Key Points Differences in sex development (DSD) are due to a variety of etiologies, requiring expertise of the pediatric endocrinologist, pediatric urologist, geneticist, and child psychologist, as well as the adolescent gynecologist, cytogeneticist, radiologist, and ethicist in some cases, to…
Key Points Infants born with ambiguous genitalia or nonpalpable testes need to be evaluated for congenital adrenal hyperplasia as it can be life threatening. Adrenal steroid levels vary with gestational age. Adrenal insufficiency should be treated with hydrocortisone to avoid…
Key Points Neonatal hypocalcemia may be asymptomatic or present with signs of increased neuromuscular excitability, including focal or generalized seizures. Neonatal hypocalcemia is classified by the timing of onset, with early and late hypocalcemia having different causes and approaches to…
Key Points Developmental disorders of endocrine organs often manifest themselves in the neonatal period. The fetal adrenal gland produces large amounts of androgens to be used by the placenta for estrogen biosynthesis. Neonatal hypopituitarism may be due to a number…
Key Points There are numerous influences on normal blood pressure (BP) in neonates, including gestational age, birthweight, and maternal factors such as preeclampsia. As in older children, identification of hypertension (HTN) in the neonate is dependent on proper BP measurement…
Key Points The presentation of urinary tract infections (UTIs) in neonates differs from that seen in older children. The type and route of infection also differ in neonates, when compared with older children. An appropriate urine sample for diagnosis is…
Key Points Nephrotic syndrome (NS) comprises persistent heavy proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Genetic abnormalities of structural or regulatory proteins within the glomerular basement membrane and/or podocyte lead to primary congenital NS (CNS). Treatment of CNS does not involve immunosuppression…