PEDIATRICS Vol. 101 No. 5 May 1998, pp. 929-932

EXPERIENCE AND REASON:
Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype

Received Nov 5, 1997; accepted Dec 26, 1997.

Donna M. McDonald-McGinn

Deborah A. Driscoll^{, §}

Beverly S. Emanuel

Elaine H. Zackai

Thomas Moshang Jr^*

^* Divisions of Endocrinology and Diabetes and  Human Genetics and Molecular Biology Department of Pediatrics Children's Hospital of Philadelphia ^§ Department of Obstetrics and Gynecology University of Pennsylvania School of Medicine Philadelphia, PA 19104

The list of findings associated with the 22q11.2 deletion is quite long and varies from patient to patient. The hallmark features include: conotruncal cardiac anomalies, palatal defects, thymic aplasia or hypoplasia, T cell abnormalites, mild facial dysmorphia, and learning disabilities. The 22q11.2 deletion has been seen in association with the DiGeorge sequence, velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome, isolated conotruncal cardiac anomalies, and some cases of autosomal dominant Opitz G/BBB syndrome. Short stature has been seen in one to two thirds of children reported in the literature with a diagnosis of VCFS, but growth hormone deficiency (GHD) has not been described in conjunction with this diagnosis. We present 4 patients with a 22q11.2 deletion and short stature who were found to have abnormalities 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 anatomy. In our population, the incidence of GHD in 4 of 95 children with 22q11 deletion is significantly greater than the estimated incidence of GHD in the general population. Children with a 22q11.2 deletion appear to be at a greater risk for pituitary abnormalities. Therefore, those children with the 22q11.2 deletion and short stature or poor growth should be evaluated for GHD, as replacement growth hormone therapy may improve their growth velocity and final height prediction.

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				S. Jyonouchi, D. M. McDonald-McGinn, S. Bale, E. H. Zackai, and K. E. Sullivan CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features Pediatrics, May 1, 2009; 123(5): e871 - e877. [Abstract] [Full Text] [PDF]