Cardiac examination in children with Laron syndrome undergoing mecasermin therapy.

Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım

Journal of pediatric endocrinology & metabolism : JPEM 2018 Jun 27

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Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin. The study enrolled five children four males and one female, 4 M/1 F with LS, two of whom were siblings with a mean age of 6.3±2.1 years, a body weight of 13.36±4.74 kg, a height of 88±8.7 cm, and a body mass index (BMI) of 16.47±3.35. Their demographic data were obtained from their family and files. The children received mecasermin via subcutaneous injection at 0.04-0.12 μg/kg doses twice per day. The duration of mecasermin treatment was 8-53 months. All of them were examined clinically by electrocardiogram and echocardiogram. Their cardiac examinations were normal, except for one case, who had systolic murmur at cardiac auscultation. Arrhythmia was not observed on their electrocardiograms. The echocardiograms did not show a significant congenital cardiac anomaly. Their cardiac measure and functions were within normal ranges. The echocardiogram of the child with the murmur showed mitral and tricuspid insufficiency. The Doppler images showed pulmonary hypertension findings. These findings were proven by angiography. The vasoreactivity test results of that patient were negative. No reason could be found for the observed pulmonary hypertension. We diagnosed this finding as a primary pulmonary hypertension and Bosentan therapy was started. In this study, we showed that cardiac findings were consistent with previous studies. To the best of our knowledge, the observed pulmonary hypertension in children with LS, who received treatment with or without mecasermin, is reported for first time in the literature.

Citation

Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım. Cardiac examination in children with Laron syndrome undergoing mecasermin therapy. Journal of pediatric endocrinology & metabolism : JPEM. 2018 Jun 27;31(6):675-679