Endocrine Abstracts

JOINT2716

CHARGE syndrome is a rare monogenic syndrome of congenital defects with a diverse clinical picture, occurring with a frequency of 1: 100 thousand births. CHARGE syndrome is caused by a disturbance in the function of the CHD7 gene, which encodes a protein that is a transcription regulator that binds to elements in the nucleoplasm and enhances the biogenesis of ribosomal RNA (another transcription element). The name CHARGE is an acronym of the first letters of the following developmental defects: C (coloboma) eye cleft (80-90%), H (heart defect) heart defect (60-85%), A (atresia choanae) choanal atresia (55-85%), R (retarded growth) growth and cognitive development disorder (70-85%), G (genital hypoplasia) genital abnormalities (53-100%) E (ear anomaly) dysmorphia of the auricles and hearing loss typical of the syndrome. In approximately 90% of patients, agenesis of the semilunar canals also occurs. Clinical diagnosis of CHARGE syndrome requires the detection of four defects from the group of major criteria or three major and three minor criteria, as well as confirmation of a pathogenic variant in the CHD7 gene. Short stature is one of the minor criteria. There may be many causes of growth deficiency: difficulties in feeding, co-occurrence of systemic defects or growth hormone deficiency. The aim of the study is to assess the effectiveness of growth hormone treatment in children with CHARGE and short stature. An analysis of 29 patients with CHARGE syndrome confirmed by a mutation in the CHD7 gene was carried out. The youngest of the analyzed patients is 6 months old, the oldest is 24 years old. The average birth weight is 2997.4 g, length 52.1 cm. All analyzed patients were burdened with developmental defects, as many as 83% of patients have a heart defect. Growth <3pc was found in 76% of patients, but only two patients are currently treated with growth hormone due to somatotropin-dependent pituitary insufficiency. During the treatment they did not achieve 3pc height, but an improvement in growth was achieved, expressed as a decrease in the standard deviation of growth.

Conclusions: 1. The vast majority of children with CHARGE syndrome are short, but only a few patients are qualified for the diagnosis of somatotropin hypopituitarism and qualified for treatment with recombinant growth hormone. 2. Only two patients with CHARGE syndrome (6.9%) analyzed in the study are treated with rhGH. As a result of using rhGH, an improvement in growth velocity was achieved.