ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
An ACTH-secreting pituitary microadenoma resulting in bilateral adrenal hyperplasia is termed Cushing disease; this should be distinguished from Cushing syndrome due to various causes. Of the following, the BEST test that helps to differentiate between Cushing disease and Cushing syndrome is
Correct Answer: A
Rationale: Children with stage 5 CKD (ESRD) are typically treated with either dialysis or renal transplantation. A 24-hour urinary cortisol excretion helps identify excess cortisol production, a key step in differentiating Cushing disease (pituitary-driven) from other Cushing syndrome causes, though high-dose dexamethasone (C) is often used later for confirmation.
Question 2 of 5
Galactosemia is an autosomal recessive disease characterized by all the following EXCEPT
Correct Answer: C
Rationale: Galactosemia (galactose-1-phosphate uridyltransferase deficiency) causes hyperbilirubinemia, coagulopathy, glycosuria, and aminoaciduria from galactose accumulation, but hyperglycemia is not typical as glucose metabolism is unaffected.
Question 3 of 5
A 3-week-old neonate presented with poor feeding, vomiting, and tachypnea with profound depression of the central nervous system, associated with alternating hypotonia and hypertonia, opisthotonos, and seizures. Laboratory manifestations reveal hypoglycemia and metabolic acidosis with high anion gap. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Maple syrup urine disease (MSUD) presents neonatally with feeding issues, CNS depression, tone changes, seizures, hypoglycemia, and high-anion-gap acidosis from branched-chain amino acid accumulation, matching this case.
Question 4 of 5
A relative parents brought their underweight 6-month-old female infant who has high foreheads, flat orbital ridges, widely open fontanelles, hepatomegaly, hypotonia, and nystagmus; she had history of recurrent seizures. Of the following, the MOST likely diagnosis is
Correct Answer: B
Rationale: Zellweger syndrome, a peroxisomal disorder, presents with dysmorphic features (high forehead, flat ridges), hepatomegaly, hypotonia, seizures, and nystagmus, consistent with this case and consanguinity.
Question 5 of 5
In children with Down syndrome (DS), the type of leukemia varies by age. In those younger than 2 years, it is generally
Correct Answer: D
Rationale: In children with DS younger than 2 years, the type is generally acute megakaryoblastic leukemia; in individuals older than 3 years, acute lymphoblastic leukemia predominates.