A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this boy is

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Question 1 of 5

A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this boy is

Correct Answer: A

Rationale: 11-hydroxylase deficiency causes precocious puberty, hypertension, hypokalemia, and elevated deoxycorticosterone, matching this case. 21-hydroxylase (E) typically causes virilization without hypertension, and others (B, C, D) don’t fit.

Question 2 of 5

Clinical laboratory testing can define the metabolic derangement. Vacuolated lymphocytes and metachromatic granules are seen in

Correct Answer: A

Rationale: Vacuolated lymphocytes and metachromatic granules are hallmarks of lysosomal storage disorders (e.g., mucopolysaccharidoses) due to undegraded substrates. Organic acidurias (B), NKH (C), PCD (D), and IVA (E) show different biochemical markers.

Question 3 of 5

Phenylketonuria (PKU) is characterized by all the following EXCEPT

Correct Answer: C

Rationale: PKU is autosomal recessive (A), brain-affecting (B), normal at birth (D), and causes retardation if untreated (E), but its incidence is ~1 in 10,000-15,000, not 1 in 1,000, making C incorrect.

Question 4 of 5

A first cousin parents brought their 3-week-old neonate with fever, vomiting, and diarrhea, on examination he is tachypnic and lethargic, lab. Investigations revealed ketoacidosis, hyperglycinemia, neutropenia, thrombocytopenia, hyperammonemia and hypoglycemia. Of the following, the MOST likely diagnosis is

Correct Answer: A

Rationale: Propionic acidemia causes neonatal ketoacidosis, hyperglycinemia, bone marrow suppression (neutropenia, thrombocytopenia), hyperammonemia, and hypoglycemia, consistent with this presentation and consanguinity.

Question 5 of 5

Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in

Correct Answer: D

Rationale: MPS VI (Maroteaux-Lamy) primarily affects somatic tissues (skeleton, heart) with minimal brain involvement, unlike other MPS types with significant neurological impact.

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