Background: GH deficiency type IA represents the most serious form of isolated deficit GH (IDGH). Its transmitted as an autosomal recessive pattern and in most cases there is a homozygous deletion of the GH1 gene. Good initial response to treatment is characteristic, although often could appear antibodies against recombinant GH.
Case presentation: We report a case of a 5-year-old Pakistanist boy evaluated for severe growth failure (heigh <8.07 SDS). No records of the patients height before the visit were available. No relevant neonatal history and normal psychomotor development. Parents were first cousins with normal height. He presented with low IGF1 levels and GH deficit was confirmed after clonidine test. The karyotype was 46 XY and MRI showed pituitary hypoplasia. There werent other abnormal hormonal results in blood test. Clinical phenotype consisting on truncal obesity, prominent forehead, and craniofacial disproportion. It was suspected IDGH type IA, and genetic study showed absence of GH1 gene in homozygous. He started on r-hGH therapy. Heigh velocity increased to 12 cm/year with normal IGF1 levels initially, but it dropped to 3.3 cm/year (−3.5 SD) 6 months later, with undetectable IGF1 levels. Presence of anti-hGH antibodies was suspected and confirmed on laboratory analysis. Recombinant IGF1 treatment was started, increasing growth velocity to 10 cm/year without complications in his evolution.
Conclusion: Development of anti-GH antibodies is an inconstant finding despite identical molecular defects. Response to r-hGH treatment could be different. In our reported case, rIGF1 treatment has been shown as the only possible alternative therapy, resulting highly effective with no side effects. We consider the importance of reporting clinical experience and response to new treatments available for an uncommon pathology.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology