German Alina, Almashanu Shlomo, de Vries Liat, Gil Margolis Merav, Halloun Rana, Haim Alon, Eyal Ori, Levy-Khademi Floris, Pivko-Levy Dikla, Nir Judith, Pinhas-Hamiel Orit, Tenenbaum-Rakover Yardena
Pediatric Endocrinology and Diabetes Unit, Ha'Emek Medical Center, Afula 1834111, Israel.
The National Newborn Screening Program, Ministry of Health, Tel Hashomer, Ramat Gan 5262000, Israel.
J Clin Endocrinol Metab. 2025 Apr 22;110(5):e1653-e1659. doi: 10.1210/clinem/dgae485.
Central congenital hypothyroidism (CCH) is a thyroid hormone deficiency at birth caused by inadequate pituitary stimulation of the thyroid gland. Although primary congenital hypothyroidism has been studied extensively, studies on CCH are sparse.
To assess the prevalence of CCH in Israel and describe its clinical features, neonatal screening results, and outcomes.
This multicenter cross-sectional retrospective chart review covered 9 pediatric endocrine units throughout Israel; patients diagnosed with CCH in 1987-2021 were categorized into early (within 14 days of life) and late (after 14 days) diagnosis groups. Newborn screening (NBS) results were retrospectively retrieved from the national NBS program dataset.
CCH prevalence in Israel was about 1:42 800 live births. Subjects were 94 patients (54 males), of these, 84% had multiple pituitary hormone deficiencies and 16% had isolated CCH. The median age at diagnosis was 50 days (range, 1-8760), with 66% having moderate to severe hypothyroidism. NBS detected only 3 infants. Early diagnosis occurred in 34% due to hypopituitarism, while 66% were diagnosed later due to growth and developmental delays. Neurodevelopmental sequelae included mental retardation (12%), learning difficulties (18%), delayed speech (27%), and motor clumsiness (19%), with no significant differences in outcomes between early and late diagnosis.
Despite high rates of neurodevelopmental sequelae, no differences were found between early and late diagnosis groups. Further research is needed to assess the impact of delayed diagnosis on neurological outcomes in newborns with CCH. Improved strategies for detecting CCH in newborns are also necessary.
中枢性先天性甲状腺功能减退症（CCH）是出生时由于垂体对甲状腺的刺激不足而导致的甲状腺激素缺乏。尽管原发性先天性甲状腺功能减退症已得到广泛研究，但关于CCH的研究却很少。
评估以色列CCH的患病率，并描述其临床特征、新生儿筛查结果及预后。
这项多中心横断面回顾性病历审查涵盖了以色列全国9个儿科内分泌科室；将1987年至2021年诊断为CCH的患者分为早期（出生后14天内）和晚期（出生后14天以后）诊断组。从国家新生儿筛查项目数据集中回顾性检索新生儿筛查（NBS）结果。
以色列CCH的患病率约为1:42800活产儿。研究对象为94例患者（54例男性），其中84%患有多种垂体激素缺乏症，16%患有孤立性CCH。诊断时的中位年龄为50天（范围1 - 8760天），66%患有中度至重度甲状腺功能减退症。NBS仅检测出3例婴儿。34%的患者因垂体功能减退而早期诊断，66%的患者因生长发育迟缓而后期诊断。神经发育后遗症包括智力迟钝（12%）、学习困难（18%）、语言发育迟缓（27%）和运动笨拙（19%），早期和晚期诊断组的预后无显著差异。
尽管神经发育后遗症发生率较高，但早期和晚期诊断组之间未发现差异。需要进一步研究以评估延迟诊断对CCH新生儿神经学预后的影响。还需要改进新生儿CCH的检测策略。
