Children and adolescents with DiGeorge syndrome are short in early infancy but develop excess weight in adolescence: a retrospective study

Crianças e adolescentes com síndrome de DiGeorge são pequenos na primeira infância, mas desenvolvem excesso de peso na adolescência: um estudo retrospectivo

ABSTRACT

Objective:  DiGeorge syndrome (DGS) is characterized by facial dysmorphisms, congenital heart defects, palatal abnormalities, hypocalcemia, immunodeficiency, and neurodevelopmental deficits. Growth hormone deficiency may be present. Among these, recurrent infections, congenital heart defects, hypocalcemia, and feeding difficulties are the most common causes of impaired growth. The aim of this study was to describe and compare over time the growth trajectory of children and adolescents with DGS followed up in an outpatient clinic at a Brazilian tertiary-care referral hospital.

Methods:  In this historical cohort, we analyzed electronic medical records of 29 patients collected from 2009 to 2024.

Results:  In the first 2 years of life, 50% of weight measurements were below a z-score of -2 (indicating low or very low weight for age). Between 2 and 10 years of age, the median weight was between z-scores -2 and 0 (appropriate weight for age), and there was a significant increase in weight/age over time (p=0.019). Regarding length, in the first 2 years of age, 75% of the measurements were below a z-score of -2. From 2 to 19 years of age, the median length was between z-scores -2 and 0, suggesting recovery over time (p=0.004). Between 2 and 10 years of age, the median body mass index (BMI) was between z-scores -2 and 0 (normal weight). After 11 years of age, the median BMI-for-age z-score was above +1 (excess weight). Over time, there was a significant increase in BMI-for-age z-scores (p=0.011).

Conclusions:  Weight and height deficits were prevalent in the early years, likely associated with feeding difficulties and congenital defects, but showed recovery around 2 years of age. Recognizing anthropometric variations in patients with DGS helps prioritize interventions such as nutritional support, infection control, and surgical correction.

Keywords:
22q11 deletion syndrome; Primary immunodeficiency diseases; Body weight; Height; Body mass index; Growth