2008 PREP SA on CD-ROM
Question: 106
During the annual health supervision visit of a 9-year-old boy, you note that he has grown very
little in the past year (Item Q106). 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 insufficiency
Copyright © 2008 by the American Academy of Pediatrics
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2008 PREP SA on CD-ROM
Question: 106
Courtesy of L. Levitsky
Copyright © 2008 by the American Academy of Pediatrics
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2008 PREP SA on CD-ROM
Critique: 106
Preferred Response: 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 (Item C106) 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. An activating mutation of the fibroblast growth factor 3 receptor, of less severity
than in achondroplasia, is found in most children who have this autosomal dominant disorder. In
constitutional delay of maturation growth attenuation begins 2 to 3 years before puberty, not as
early as 7 years of age. The boy described in the vignette requires careful growth evaluation,
which might reveal low insulin-like growth factor 1 (somatomedin C) and free thyroxine
concentration with normal thyroid-stimulating hormone values. Children who have congenital
growth hormone deficiency usually begin to manifest slowing growth by 6 months of age and
soon develop a cherubic appearance. They may develop hypoglycemia. If hypopituitarism is
present, there may be associated jaundice and, in boys, microphallus.
References:
Francomano CA. Hypochondroplasia. GeneReviews. 2005. Available at:
http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=wE7MMm0l
OBLoq&gry=&fcn=y&fw=J53N&filename=/profiles/hypochondroplasia/index.html
Recht LD, Marcus KJ. Craniopharyngioma. UpToDate Online 14.3. Available for subscription at:
http://www.utdol.com/utd/content/topic.do?topicKey=brain_ca/2447&type=A&selectedTitle=1~14
Richmond EJ, Rogol AD. Diagnosis of growth hormone deficiency in children. UpToDate Online
14.3. Available for subscription at:
http://www.utdol.com/utd/content/topic.do?topicKey=pediendo/5869&type=P&selectedTitle=20~3
7
Rogol AD. Causes of short stature. UpToDate Online 14.3. Available for subscription at:
http://www.utdol.com/utd/content/topic.do?topicKey=pediendo/2279&type=A&selectedTitle=1~61
van Rijn JC, Grote FK, Oostdijk W, Wit JM. Short stature and the probability of celiac disease, in
the absence of gastrointestinal symptoms. Arch Dis Child. 2004;89:882-883. Available at:
http://adc.bmj.com/cgi/content/full/89/9/882
Copyright © 2008 by the American Academy of Pediatrics
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2008 PREP SA on CD-ROM
Critique: 106
Growth curve in a child who has celiac disease documenting slowing of linear growth and weight
loss.
Courtesy of L. Levitsky
Copyright © 2008 by the American Academy of Pediatrics
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