Djermane Adel, Ouarezki Yasmine, Boulesnane Kamelia, Kherra Sakina, Bouferoua Fadila, Bessahraoui Mimouna, Selim Nihad, Djahlat Larbi, Mohammedi Kahina, Bouziane Nedjadi Karim, Abes Hakima, Bensalah Meriem, Lograb Dyaeddine, Abdelaziz Foued, Douiri Dalila, Djebari Soumia, Demdoum Mohamed Seghir, Rouabeh Nadira, Oussalah Meriem, Van Vliet Guy, Ladjouze Asmahane
Faculty of Medicine, University of Health Science, Algiers 16028, Algeria.
Department of Paediatrics, Hassan Badi Public Hospital, Algiers 16051, Algeria.
Int J Neonatal Screen. 2025 Sep 15;11(3):78. doi: 10.3390/ijns11030078.
The absence of biochemical newborn screening (NBS) delays the diagnosis and treatment of congenital hypothyroidism (CH), resulting in irreversible neurodevelopmental damage. To determine the age at diagnosis for CH among Algerian children and to describe its clinical and biological characteristics, etiology, and outcome, we conducted a multicenter retrospective cohort study involving 288 children with CH across 20 pediatric centers between 2005 and 2023. The median age at diagnosis was 1.6 months, and only 28% of patients started treatment before 30 days. Prolonged neonatal jaundice was the most frequently presented symptom (58%), severe CH (fT < 5 pmol/L) was observed in 35% and 52% received an insufficient initial dose of L-T. The median IQ of the 47 patients tested was 86; 11% had an IQ < 70, and a negative correlation was found between age at diagnosis and IQ (r = -0.48, = 0.001). In children reassessed at age 3, 51% had normal thyroid function, indicating transient CH. Delayed diagnosis and suboptimal treatment of CH remain major challenges in Algeria, leading to substantial neurodevelopmental deficits. Pediatricians must remain cognizant of early clinical signs of CH to allow for timely diagnosis and intervention. Biochemical NBS for CH in Algeria is needed.
新生儿生化筛查（NBS）的缺失会延迟先天性甲状腺功能减退症（CH）的诊断和治疗，导致不可逆转的神经发育损伤。为了确定阿尔及利亚儿童CH的诊断年龄，并描述其临床和生物学特征、病因及预后，我们开展了一项多中心回顾性队列研究，纳入了2005年至2023年间20个儿科中心的288例CH患儿。诊断时的中位年龄为1.6个月，只有28%的患者在30天前开始治疗。持续性新生儿黄疸是最常见的症状（58%），35%的患者观察到重度CH（游离甲状腺素<5 pmol/L），52%的患者初始左旋甲状腺素剂量不足。47例接受测试的患者的中位智商为86；11%的患者智商<70，且诊断年龄与智商之间存在负相关（r = -0.48，P = 0.001）。在3岁时重新评估的儿童中，51%的儿童甲状腺功能正常，表明为暂时性CH。CH的诊断延迟和治疗欠佳在阿尔及利亚仍然是主要挑战，会导致严重的神经发育缺陷。儿科医生必须时刻留意CH的早期临床症状，以便及时诊断和干预。阿尔及利亚需要开展CH的生化NBS。
