The 22q11 deletion syndrome encompasses a wide range of clinical entities, including the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. The phenotypic features include cardiac defects, thymic and parathyroid hypoplasia, cleft palate or velopharyngeal insufficiency, short stature, and dysmorphic facies. Short stature is reported to occur in 39% to as many as 67% of cases of velocardiofacial syndrome (VCFS), but to date there have been no reported cases of documented growth hormone deficiency (GHD). We report two patients with 22q11 deletion and documented GHD and a third with probable GHD.

Patient 1 was a 5 y.o. girl with atrial septal defect, velopharyngeal insufficiency, and recurrent otitis media, referred for poor growth and failure to thrive. Patient 2 was a 5 y.o. boy with short palate, recurrent otitis media, and history of hypocalcemia and transient hypoparathyroidism in the newborn period, referred for short stature. Patient 3 was a 4 y.o. boy with history of vascular ring, double aortic arch, and normal palate, referred for poor growth. Their chronological age (CA), height age (HA), height (SDS), annualized growth velocity (GV, SDS), insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGF-BP3), maximum growth hormone response (GH) data, and normal values (in parentheses) are shown:Table

Table 1
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Subsequent to their growth evaluations all three patients were found to have the 22q11 deletion by fluorescence in situ hybridization analysis. An MRI on Patient 1 revealed a hypoplastic, ectopic pituitary gland. Patient 3 will be undergoing GH testing. Patients 1 and 2 have demonstrated dramatic improvements in height SDS (-1.8 and -1.6, respectively) and growth velocity SDS (+0.7 and +2.7, respectively) after 2 years of supplemental GH therapy(0.3 mg/kg/wk).

We report documented GHD in two children and probable GHD in a third child with 22q11 deletion syndrome. We conclude that children with 22q11 deletion and short stature should be evaluated for GHD. Furthermore, the presence of facial, palatal, or cardiac anomalies in a child with GHD should alert the clinician to consider the 22q11 deletion syndrome.