Özgelen Şebnem, Nijat Baş Veysel, Çetinkaya Semra, Aycan Zehra
Clinics of Pediatric Endocrinology, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.
Iran J Pediatr. 2014 Jun;24(3):255-60.
Since congenital hypothyroidism (CH) is the most important cause of preventable mental retardation, its screening is important. In this present study, it was aimed to evaluate congenital hypothyroidism cases before and after the initiation of screening program in year 2007 in our country.
A total of 400 patients diagnosed with CH at our outpatient clinic were retrospectively evaluated. Age of diagnosis, complaint, clinical signs, and etiological distribution were detected and changes in those parameters were evaluated before and after year 2007, which was the initiation date of our national screening program. Findings : After year 2007, 70.6% of patients were diagnosed in the first month; 21.2% in 1-3 months; 6.5% in 3-6 months, and no patient was diagnosed after 9 months. Before initiation of the screening program, 48.4% of cases were diagnosed in the first month, the percentage was increased to 62.8% after the program; the increase was significant. While mental retardation was detected in 13.3% of patients before the screening, it was decreased to 4% after initiation of the program. An interesting finding was that age of treatment onset in girls was significantly higher than in boys before the screening; there was no difference between them after initiation of the screening.
In this present study, it was observed that ages of diagnosis and treatment as well as mental retardation rates were significantly decreased in girls after the screening program, but ideal results have not been reached yet, and is expected to be reached in the future.
由于先天性甲状腺功能减退症（CH）是可预防的智力发育迟缓的最重要原因，其筛查至关重要。在本研究中，旨在评估我国2007年筛查计划启动前后的先天性甲状腺功能减退症病例。
对在我们门诊诊断为CH的400例患者进行回顾性评估。检测诊断年龄、主诉、临床体征和病因分布，并评估2007年（我国国家筛查计划启动日期）前后这些参数的变化。结果：2007年后，70.6%的患者在第一个月被诊断；21.2%在1 - 3个月；6.5%在3 - 6个月，9个月后无患者被诊断。在筛查计划启动前，48.4%的病例在第一个月被诊断，计划实施后该百分比增至62.8%；增幅显著。筛查前13.3%的患者检测出智力发育迟缓，计划启动后降至4%。一个有趣的发现是，筛查前女孩开始治疗的年龄显著高于男孩；筛查启动后两者之间没有差异。
在本研究中，观察到筛查计划后女孩的诊断和治疗年龄以及智力发育迟缓率显著降低，但尚未达到理想结果，预计未来会达到。
