Routine Checkup in Pediatrics — Case | Pediatric Endocrinology | SMLE Q#9990

SMLE Question #9990

Pediatrics Pediatric Endocrinology

Objective: OBJ-173

Last updated: February 2026
A 2-week-old boy is brought for a routine checkup. He was born at 41 weeks’ gestation via uncomplicated vaginal delivery and is exclusively breastfed. His parents report he is sleepy, feeds slowly, and has had jaundice since birth. Examination shows generalized jaundice, cool dry skin, decreased muscle tone, large anterior and posterior fontanels, a reducible umbilical hernia, and a tongue that appears large relative to his mouth. Which of the following disorders is most likely present in this infant?

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