ESPE Abstracts

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 ...

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...

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...

The Ig superfamily member 1 (IGSF1) gene encodes a plasma membrane immunoglobulin superfamily glycoprotein, that is highly expressed in Rathke’s pouch and the adult pituitary gland and testis. It is now known that a loss-of-function mutation in this gene causes X-linked syndromic disorders including congenital central hypothyroidism, macroorchidism, prolactin deficiency, partial and transient growth hormone (GH) deficiency, disharmonious pubertal develo...

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...