Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement

スポンサーリンク

概要

• 論文の詳細を見る

• In Kanagawa Prefecture, Japan, simultaneous measurements of free T4 (FT4) and TSH levels are performed during newborn screening for congenital hypothyroidism (CH). FT4 measurement enables the detection of CH of central origin (CH-C), the incidence of which is estimated to be 1 in 30,833 live births in Kanagawa Prefecture. In this study, we aimed to evaluate the efficacy of FT4 screening when transient CH-C and thyroidal CH (CH-T) with delayed TSH elevation are included as screening targets. Data collected on CH-C patients using a regional survey, as well as data from a database created by a screening organization, were used. Of the 24 CH-C patients who had been born in Kanagawa Prefecture between 1999 and 2008, a positive screening result for FT4 (<0.7 ng/dL) was obtained in 13 newborns; of these, 12 were identified solely through newborn screening. Of the 113 patients for whom positive screening results were obtained during the study period, 5 and 6 were found to have transient CH-C and CH-T with delayed TSH elevation, respectively. Remarkably, 4 out of 5 patients with transient CH-C and all patients with CH-T with delayed TSH elevation were diagnosed through the evaluation of low FT4 at screening. These results indicate that the use of this FT4 screening system facilitates the identification of transient CH-C and CH-T with delayed TSH elevation, thus justifying the inclusion of these entities as screening targets.

• 一般社団法人 日本内分泌学会の論文

著者

• ASAKURA YUMI

  Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical C

• Muroya Koji

  Department Of Endocrinology And Metabolism Kanagawa Children's Medical Center

• Asakura Yumi

  Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama 232-8555, Japan

• Hirahara Fumiki

  Neonatal Mass-screening Committee, Kanagawa Prefecture Medical Association, Yokohama 231-0037, Japan

• ADACHI Masanori

  Department of Applied Chemistry, Graduate School of Engineering, Osaka Prefecture University

• Soneda Akiko

  Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama 232-8555, Japan

• Yamagami Yuji

  Neonatal Mass-screening Committee, Kanagawa Prefecture Medical Association, Yokohama 231-0037, Japan

関連論文

• Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1
• Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
• Auxological and Radiological Manifestations of Patients with Hypochondroplasia Negative for N540K Mutation in Fibroblast Growth Factor Receptor 3 Gene
• A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17α-Hydroxylase/17m,20-Lyase Deficiency, but without Obvious CYP17 Gene Mutations
• Prevalence of Obesity, Hyperlipemia and Insulin Resistance in Children with Suprasellar Brain Tumors
• ESR Study on Depth of Cure of Light-cured Composite Resins
• Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism
• Abnormal steroidogenesis in three patients with Antley-Bixler syndrome : Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase
• Bone Mineral Density and Bone Metabolic Markers in Children with Hyperthyroidism Before and During Treatment
• GATA3 abnormalities in six patients with HDR syndrome
• Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation
• A Reworkable Photothermal Dual-curing System
• Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement

もっと見る 閉じる

スポンサーリンク