ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
The MOST common presentation of primary carnitine deficiency is
Correct Answer: B
Rationale: Primary carnitine deficiency most commonly presents with cardiomyopathy from impaired fatty acid transport, more frequent than liver (A), skeletal (C), fibroelastosis (D), or hypoglycemia (E).
Question 2 of 5
A 12-year-old female has a hypoglycemic seizure, weakness, and increased cutaneous pigmentation. She is also noted to have a chronic history of mucocutaneous candidiasis, which is especially severe on her nails. In addition, she has been on thyroid replacement medication since the age of 9 years. The most likely diagnosis is
Correct Answer: D
Rationale: Autoimmune polyendocrinopathy (e.g., APS-1) explains adrenal insufficiency (pigmentation, hypoglycemia), candidiasis, and hypothyroidism, a classic triad.
Question 3 of 5
McCune-Albright syndrome is associated with all of the following EXCEPT
Correct Answer: C
Rationale: Diabetes mellitus is not a feature of McCune-Albright syndrome, which involves endocrine overactivity and fibrous dysplasia.
Question 4 of 5
Holoprosencephaly is associated with all of the following EXCEPT
Correct Answer: D
Rationale: Holoprosencephaly is a developmental defect, not caused by congenital toxoplasmosis; others are midline anomalies.
Question 5 of 5
A 10-year-old presents with 1 year of polyuria and polydipsia. On voiding cystourethrogram, she is noted to have megacystis and hydroureter. Her most likely diagnosis is
Correct Answer: B
Rationale: Megacystis and hydroureter suggest obstructive uropathy causing polyuria, not central DI or psychogenic causes.