Andreea Nissenkorn1,2, Yael Levy-Shraga2,3, Yonit Banet-Levi4, Avishay Lahad5, Ifat Sarouk6, Dalit Modan-Moses2,3. 1. Service for Rare Disorders, Pediatric Neurology Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. 2. The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 3. Pediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. 4. The National Ataxia-Telangiectasia Clinic, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. 5. Division of Pediatric Gastroenterology and Nutrition, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. 6. Pediatric Pulmonary Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Abstract
BACKGROUND: Ataxia telangiectasia (AT) is a genetic multisystem disorder, presenting with progressive ataxia, immune deficiency, and propensity toward malignancy. Endocrine abnormalities (growth retardation, reproductive dysfunction, and diabetes) have been described, however detailed information regarding this aspect is lacking. We aimed to characterize endocrine anomalies and growth patterns in a large cohort of AT patients. METHODS: Retrospective study comprising all 52 patients (aged 2-26.2 y) followed at a national AT Clinic. Anthropometric and laboratory measurements were extracted from the charts. RESULTS: Median height-SDS was already subnormal during infancy, remaining negative throughout follow up to adulthood. Height-SDS was more impaired than weight-SDS up to age 4 y, thereafter weight-SDS steadily decreased, resulting in progressively lower BMI-SDS. IGF-I-SDS was low (-1.53 ± 1.54), but did not correlate with height-SDS. Gonadal failure was present in all 13 females older than 10 y but only in one male. Two patients had diabetes and 10 had dyslipidemia. Vitamin D deficiency was observed in 52.2% of the evaluated patients. CONCLUSION: Our results suggest a primary growth abnormality in AT, rather than secondary to nutritional impairment or disease severity. Sex hormone replacement should be considered for female patients. Vitamin D levels should be followed and supplementation given if needed.
BACKGROUND:Ataxia telangiectasia (AT) is a genetic multisystem disorder, presenting with progressive ataxia, immune deficiency, and propensity toward malignancy. Endocrine abnormalities (growth retardation, reproductive dysfunction, and diabetes) have been described, however detailed information regarding this aspect is lacking. We aimed to characterize endocrine anomalies and growth patterns in a large cohort of AT patients. METHODS: Retrospective study comprising all 52 patients (aged 2-26.2 y) followed at a national AT Clinic. Anthropometric and laboratory measurements were extracted from the charts. RESULTS: Median height-SDS was already subnormal during infancy, remaining negative throughout follow up to adulthood. Height-SDS was more impaired than weight-SDS up to age 4 y, thereafter weight-SDS steadily decreased, resulting in progressively lower BMI-SDS. IGF-I-SDS was low (-1.53 ± 1.54), but did not correlate with height-SDS. Gonadal failure was present in all 13 females older than 10 y but only in one male. Two patients had diabetes and 10 had dyslipidemia. Vitamin D deficiency was observed in 52.2% of the evaluated patients. CONCLUSION: Our results suggest a primary growth abnormality in AT, rather than secondary to nutritional impairment or disease severity. Sex hormone replacement should be considered for female patients. Vitamin D levels should be followed and supplementation given if needed.
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