Q1:
During the annual health supervision visit of a 9-year-old boy, you note that he has grown very
little in the past year . He has been otherwise well. On physical examination, he has
slightly increased abdominal fat and decreased muscle mass.
Of the following, the MOST likely diagnosis is
A. celiac disease
B. constitutional delay of maturation
C. craniopharyngioma
D. hypochondroplasia
E. renal insufficiencyAnswer
C
A hallmark of short stature due to endocrine disease is central adiposity and somewhat
decreased muscle mass, as described for the boy in the vignette, which is found in growth
hormone deficiency, hypothyroidism, and Cushing syndrome. Craniopharyngioma may present
with endocrine deficiency disorders such as growth hormone and thyroid-stimulating hormone
deficiency, leading to hypothyroidism. Celiac disease and renal insufficiency usually
lead to weight loss when associated with slowing growth, but additional symptoms would be
expected. Hypochondroplasia is associated with moderate short-limbed dwarfism that begins in
early childhood.
C
A hallmark of short stature due to endocrine disease is central adiposity and somewhat
decreased muscle mass, as described for the boy in the vignette, which is found in growth
hormone deficiency, hypothyroidism, and Cushing syndrome. Craniopharyngioma may present
with endocrine deficiency disorders such as growth hormone and thyroid-stimulating hormone
deficiency, leading to hypothyroidism. Celiac disease and renal insufficiency usually
lead to weight loss when associated with slowing growth, but additional symptoms would be
expected. Hypochondroplasia is associated with moderate short-limbed dwarfism that begins in
early childhood.
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