IMPE Abstracts

Growth hormone deficiency is an entity that can affect 1/3480 children. Its etiology can be congenital or acquired. Within the congenital forms of isolated growth hormone deficiency, there are those related to the alteration of the gene that encodes it. They constitute a rare subgroup of pathologies whose inheritance pattern can be autosomal recessive, dominant or X linked. The mechanisms of growth alteration vary between those that affect the expression of the GH 1 gene, and those that directly or indirectly affect the GH regulated secretion process. We present the case of a patient with type 1A GH deficiency. The diagnostic process, treatment and clinical response are described.

Case: Patient with growth failure from 9 months of life. At 12 months of age, he was diagnosed with severe growth hormone deficiency, for which he received growth hormone intermittently for periods of 4-5 months at doses between 0.17mg-0.8mg/k/wk (0.5-2.4u/k/wk.)

Personal History: GA 35 weeks PN 2250g -0.54sd TN 42 cms -1.99sd

Family History: Consanguineous parents (first cousins) Father´s height 160 cm Mother´s height: 147.5 cm Mean parental height 160.25 cm Older brother of 170 cm He began follow-up in our institution in 2014 (chronological age 12 years 4 months), we restarted GH treatment at 0.23mg/k/wk (0.7u/k/wk) with no response to it. Studies were completed for other causes of short stature, ruling out alterations of hypopituitarism panel, bone dysplasia, malnutrition, heart, or lung disease. Antibodies against GH were positive, so an alteration of the GH gene was suspected. In January 2018 (CA: 16 years) a study by MLPA was carried out and a complete deletion of the GH1 gene in homozygosis was evidenced. The patient was lost to follow-up for 27 months, returning at 17 years 11 months Finally, at the age of 19 years 4 months with a bone age of 8 years, with a height of -15 sd, testicular volume of 3ml, rhIGF1 was started. Growth promotion was observed. After two months of treatment testicular volume was 5 ml and rapid loss of growth reserve was evident. Growth chart, auxological and pubertal evolution are presented