ESPE Abstracts

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.

Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth deficiency: height was 104.2 cm (−4.4SDS), growth velocity was 1.3 cm per year (−7.0SDS). Bone age was retarded (5;6 years). IGF1 and IGFBP3 were measured below the 3^rd percentile. She has small palpebral fissures, but no limb anomalies and no heart defect. Motor and mental development is severely retarded.

Method: Karyotyping was performed according to standard procedures. Array-CGH was carried out with an average resolution of 0.15 Mb.

Results: Chromosomal analysis showed a normal Karyotype 46,XX. Array-CGH revealed a heterozygous deletion of 4.3 Mb in the chromosomal region 2q31.1. Subsequent analysis of the parents showed that the deletion occurred de novo. Growth hormone (GH) deficiency was diagnosed (maximum GH peak 1.2 ng/ml). Cerebral MRI scan demonstrated dissociation of anterior and posterior pituitary. No other hormone deficiencies were detected. Treatment with recombinant growth hormone resulted in significant catch up growth. At the age of 12 years the girls height is 142.4 cm (−1.6SDS), growth velocity is 9.5 cm per year (+1.9 SDS). Puberty has started (Tanner stage B2).

Conclusion: This is the first report of a pituitary malformation with the consequence of growth hormone deficiency in a patient with microdeletion 2q31.1. Because these patients frequently have limb abnormalities and also because syndromic short stature may be assumed, growth hormone deficiency may be missed.