A 5-day-old male neonate develops poor feeding, irritability and tachycardia; her mother has been developed hyperthyroidism before pregnancy that was treated by radioiodine. The pregnancy course was unremarkable. Lab investigations reveal markedly elevation of T4 and T3. Of the following, the MOST likely diagnosis is

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

A 5-day-old male neonate develops poor feeding, irritability and tachycardia; her mother has been developed hyperthyroidism before pregnancy that was treated by radioiodine. The pregnancy course was unremarkable. Lab investigations reveal markedly elevation of T4 and T3. Of the following, the MOST likely diagnosis is

Correct Answer: A

Rationale: Neonatal hyperthyroidism is often congenital, caused by maternal thyroid-stimulating antibodies crossing the placenta, fitting this scenario. Primary (B), secondary (C), and tertiary (D) hyperthyroidism are not neonatal-specific, and radioiodine (E) doesn’t cause fetal hyperthyroidism.

Question 2 of 5

The major cause of the acute scrotum in boys less than 6 years of age is

Correct Answer: A

Rationale: The major cause of the acute scrotum in boys less than 6 years is torsion of the testis, a surgical emergency requiring prompt intervention.

Question 3 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 4 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 5 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.

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