Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.
Description of the case
We present a 5-year-old patient from Pakistan, without previous anthropometric data. Height 74.2cm (-8.93 DE), weight 9kg (-4.48 DE), normal segmental proportions, truncal obesity, small face and broad forehead, micro-penis, bilateral cryptorchidism and acute voice bone, healthy consanguineous parent (mother's height 158cm, father's height 168cm), 3 brothers with normal height.
Complementary tests: bone age was 2.5 years, Karyotype: 46XY. IGF1: 41.3 ng / ml (-1 DE). Basal GH test 0.24 ng / ml, peak 0.28 ng / ml. The other hormonal studies were normal. Testicular ultrasound: testicles in the inguinal canal (1.5cm). Brain MRI: adenohypophysis hypoplasia. The genetic study showed an absence of the GH1 gene in homozygotes the.
Evolution: Treatment was started with GH (0.04 mg /kg /day) with good response during the first 6 months: height velocity (HV): 7.74 cm/year, IGF1 185 ng / dl (+ 1.15DE). Subsequently, a poor response was observed with decrease in HV (4cm/year) and undetectable IGF1 (baseline and after IGF1 generation test). The study of anti-GH-antibodies was positive at 1: 10000 dilution.
After these results, treatment with GH was suspended and began treatment with rIGF1 (40 mcg /kg /day in progressive increase up to 120 mcg /kg /day). Previously complementary studies (ECG, echocardiography, abdominal ultrasound, carotid ultrasound, retinography and audiometry) were performed and were normal. The capillary glycemia also were monitored and was always in normal ranges.
The patient showed a good evolution of height. Currently the patient is 12 years old and after 5 years of treatment with rIGF1 his height is 118.6 cm (-4.88 SD) and he maintains a HV of 6.87 cm/year, no adverse effects associated with the treatment were observed, except an increase in BMI during the first 3 years of treatment that required dietary support.
Conclusions: Treatment with recombinant IGF-1 for 5 years has shown good results in our patient with GH deficiency type IA, without adverse reactions except an increase in BMI that has occurred in the first years and has been controlled with dietary measures.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology