Background: Moya Moya disease is a chronic cerebrovascular angiopathy characterized by progressive stenosis of terminal part of internal carotid vessels and the compensatory development of collateral vessels. We present here the case of a young boy with growth hormone deficiency (GHD) and testicular insufficiency that was diagnosed with Moya Moya syndrome.
Case presentation: A 12.9 year-old boy of Serbian origin was referred to the Endocrinology Department of Necker university Childrens Hospital because of growth failure (height:-3SD). Tanner puberty stage was two. Hormonal work-up revealed isolated GHD (low GH peak after two stimulation tests, low IGF1 levels), normal for pubertal stage testosterone level (1.2 ng/ml) and normal pituitary assessed by MRI. Response to GH treatment was moderate with a final height of 1.62 m (target height: 1.80 m) with rather slow pubertal evolution. At age of 17, endocrine evaluation showed low testosterone (3.8 ng/ml), high LH (13 U/L) and FSH (38 U/L) levels, low inhibin B (7 pg/ml). Spermogram revealed azoospermia. Blood karyotype was normal (46XY). GHD was confirmed at re-evaluation and GH therapy (low dose) was prescribed. The association of GHD and primary gonadal dysfunction suggested the possibility of Moya Moya syndrome, which was confirmed by molecular analysis: deletion of BRCC3 and MTCP1 genes. Therefore a brain angio-MRI was performed which showed Moya Moya characteristic vessels anomalies. After discovery of these vascular anomalies GH therapy was stopped. But the patient complained about asthenia and GH therapy was again prescribed with regular control of IGF1 levels.
Conclusion: Moya Moya syndrome must be suspected when GHD and testicular insufficiency are associated. This case promotes discussion concerning the use of GH treatment in patients with GHD and cerebral vascular anomalies in whom the risk of ischemic and hemorragic brain damage may be increased by the background disease.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology