GROWTH-HORMONE DEFICIENCY IN PATIENTS WITH A 22Q11.2 DELETION - EXPANDING THE PHENOTYPE

The list of findings associated with the 22q11.2 deletion is quite lon g and varies from patient to patient. The hallmark features include: c onotruncal cardiac anomalies, palatal defects, thymic aplasia or hypop lasia, T cell abnormalites, mild facial dysmorphia, and learning disab ilities. The 22q11.2 deletion has been seen in association with the Di George sequence, velocardio-facial syndrome (VCFS), conotruncal anomal y face syndrome, isolated conotruncal cardiac anomalies, and some case s of autosomal dominant Opitz G/BBB syndrome. Short stature has been s een in one to two thirds of children reported in the literature with a diagnosis of VCFS, but growth hormone deficiency (GHD) has not been d escribed in conjunction with this diagnosis. We present 4 patients wit h a 22q11.2 deletion and short stature who were found to have abnormal ities in the growth hormone-insulin-like growth factor I axis. All had growth factors less than -2 SD for age and failed provocative growth hormone testing. Two patients were found to have abnormal pituitary an atomy. In our population, the incidence of GHD in 4 of 95 children wit h 22q11 deletion is significantly greater than the estimated incidence of GHD in the general population. Children with a 22q11.2 deletion ap pear to be at a greater risk for pituitary abnormalities. Therefore, t hose children with the 22q11.2 deletion and short stature or poor grow th should be evaluated for GHD, as replacement growth hormone therapy may improve their growth velocity and final height prediction.