G.P.235: Growth and endocrinological evaluation in spinal muscular atrophies – A single centre study of 43 pediatric patients

Abstract

Spinal muscular atrophies (SMA) are hereditary monogenetic disorders characterized by a ubiquitary deficiency of the survival motor neuron (SMN) protein in every cell, leading to a multisystemic disorder which mostly affects alpha-motoneurons for unexplained reasons. Research has focused on the degeneration of alpha-motoneurons in order to find new treatment options; however, in SMA animal models disturbances of glucose and bone metabolisms are also described. In addition, clinical evaluation of our patients often shows hirsutism and early occurrence of pubic hair which was not observed in other neuromuscular disorders. Actually there are no data available concerning growth and pubertal development. In a period of 18 months, 43 patients (21 female/22 male), 0;6–21;8 year-old with SMA type I – III (8 SMA I; 22 SMA II; 13 SMA III) have visited our pediatric neuromuscular centre for medical follow-up due to respiratory or neuromuscular problems. In knowledge about the importance of the SMN protein for the whole organism, we designed a study to measure auxologic and endocrinological parameters to determine the hypothalamus–pituitary gland–gonad axis and the parameters of the somatotrope axis in patients with SMA type I–III. Key aspects are the evaluation of aberrations in auxology and endocrinological abnormalities, especially with regard to weight gain and puberty development to explain hirsutism and early occurrence of pubic hair. Priliminary data shows 3 out of 8 patients aged 4–7.5 with premature adrenache and 8 out of 21 with hirustism. The detailed statistic analysis of laboratory data is in progress. Endocrinological aberrations in childhood should be recognized early to prevent metabolic problems in adult SMA patients who are getting increasingly older due to improvements in treatment of respiratory and orthopedic problems, especially in SMA type II.