BACKGROUND: Ataxia telangiectasia (A-T) is a devastating human recessive disorder characterised by progressive cerebellar ataxia, immunodeficiency, genetic instability, and cancer susceptibility. In addition, many patients suffer from growth failure. METHODS: We analyzed growth and IGF-1/BP3 levels of 24 A-T-patients compared with an age-matched group of healthy controls (n = 36). RESULTS: Ten (41.7%) A-T patients and none of healthy controls had an IGF-1 level below the 3rd percentile for age. The growth hormone (GH) stimulation tests revealed a severe GH deficiency with no increase of >5 ng/ml in six of the ten A-T patients. The IGF-1 generation tests revealed normal increases in IGF-1 values in all patients. CONCLUSION: Our results show that a disturbance in the GH/IGF-1 axis was present in 58.3% of A-T patients. Low levels of GH were the result of reduced central GH secretion. GH treatment may be a therapeutic option for A-T patients with severe growth failure.
BACKGROUND:Ataxia telangiectasia (A-T) is a devastating humanrecessive disorder characterised by progressive cerebellar ataxia, immunodeficiency, genetic instability, and cancer susceptibility. In addition, many patients suffer from growth failure. METHODS: We analyzed growth and IGF-1/BP3 levels of 24 A-T-patients compared with an age-matched group of healthy controls (n = 36). RESULTS: Ten (41.7%) A-Tpatients and none of healthy controls had an IGF-1 level below the 3rd percentile for age. The growth hormone (GH) stimulation tests revealed a severe GH deficiency with no increase of >5 ng/ml in six of the ten A-Tpatients. The IGF-1 generation tests revealed normal increases in IGF-1 values in all patients. CONCLUSION: Our results show that a disturbance in the GH/IGF-1 axis was present in 58.3% of A-Tpatients. Low levels of GH were the result of reduced central GH secretion. GH treatment may be a therapeutic option for A-Tpatients with severe growth failure.
Authors: Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman Journal: Orphanet J Rare Dis Date: 2016-11-25 Impact factor: 4.123
Authors: Sandra Woelke; Eva Valesky; Shahrzad Bakhtiar; Helena Pommerening; L M Pfeffermann; Ralf Schubert; Stefan Zielen Journal: Front Immunol Date: 2018-09-18 Impact factor: 7.561