hrp0089p1-p261 | Thyroid P1 | ESPE2018

A Novel DICER1 Mutation Identified in a Family with the Multinodular Goiter of Children

Nagasaki Keisuke , Shibata Nao , Nyuzuki Hiromi , Sasaki Sunao , Ogawa Yohei , Kogai Takahiko , Hishinuma Akira

Background: Nontoxic multinodular goiter (MNG) is frequently encountered in the general population, but little is known about the underlying genetic susceptibility to this disease. Recently, germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in familial MNG with and without Sertoli-Leydig cell tumor of the ovary.Objective: We reporteda family exhibiting various thyroid diseases in which a ...

hrp0094p2-457 | Thyroid | ESPE2021

A case of complete atrioventricular block after initiation of methimazole in a patient with Graves' disease associated with Down's syndrome previously undergoing cardiac surgery

Sawano Kentaro , Hiroshima Shota , Shibata Nao , Nyuzuki Hiromi , Ogawa Yohei , Nagasaki Keisuke

Background&: Arrhythmias associated with hyperthyroidism are mainly tachyarrhythmias, such as sinus tachycardia and atrial fibrillation. In comparison, hypothyroidism shows several electrocardiographic changes, including sinus bradycardia, low amplitude QRS complexes, QT interval prolongation. There are few reports of bradyarrhythmia with hyperthyroidism, and it remains unclear.Case: The patient is a 13-year-old girl with Down's syndrome. She underw...

hrp0094p2-460 | Thyroid | ESPE2021

Re-evaluation of the prevalence of permanent congenital hypothyroidism in Niigata, Japan: A retrospective study

Nagasaki Keisuke , Nyuzuki Hiromi , Shibata Nao , Sawano Kentaro , Hiroshima Shota , Ogawa Yohei

Introduction: Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence estimations among the NBS-positive CH individuals include those with transient hypothyroidism and transient hyperthyrotropinemia, and re-evaluation with increasing age is necessary to clarify the actual incidence. Thus, we re-evaluated the incidence of permanent CH.Subjects and Methods...

hrp0092p1-173 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Cutoff Value for 25 Hydroxy-Vitamin D Which Leading to sYmptomatic Vitamin D Deficiency in Children is 15 ng/mL in a Chemiluminescent Immunoassay

Ogiwara Yasuko , Hachiya Rumi , Shibata Nao , Ishii Akira , Higuchi Shinji , Nagasaki Keisuke , Kamasaki Hotaka , Yorifuji Toru , Hasegawa Yukihiro

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...