Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)

Abstract

Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

“…Mass screening for congenital hypothyroidism (CH) has the same problem. Whole blood thyroid stimulating hormone depends on the neonate's hematocrit, but it could be applied for newborn screening for CH (28). Indeed, serum volume varies for the samples, but the cut-off is expected to be high enough to overcome the variability of the serum volume.…”

Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

“…Congenital hypothyroidism (CH) is the most common pediatric endocrine disorder [1,2]. CH is sporadic and occurs in 1:1500 to 1:4000 newborns, making it one of the most common causes of preventable mental retardation [3][4][5]. CH is less prevalent in Blacks and more prevalent in Caucasians [6].…”

“…Unrecognized CH leads to cognitive disorders [7]. CH delays psychomotor development in infants [5,8]. Neonatal screening programs for CH allow early suitable diagnosis and treatment of the condition [4].…”

“…Neonatal screening programs for CH allow early suitable diagnosis and treatment of the condition [4]. Screening programs are very important clinically because severe cases without prompt treatment will lead to irreversible mental retardation [1,5,9]. Primary screening of thyroid-stimulating hormone (TSH) levels has become standard in many parts of the world [7].…”

“…The first screening program for CH was conducted in North America in 1972 [4]. There are many diseases and conditions present with increased TSH levels; these include CH [5]. The majority of newborns with CH do not have clear manifestations of hypothyroidism, making clinical diagnosis difficult [10].…”