ESPE Abstracts

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

Background: The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-Gsα) mediates signal transductions of multiple G-protein-coupled receptors including arginine vasopressin (AVP) receptor 2 (AVPR2). To date, various germline-derived loss-of-function variants of maternal and paternal origin have been found in pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism respectively, and specific somatic gain...

Background: Fetal-derived androgen excess, such as 21-hydroxylase deficiency (21-OHD), is a major cause of 46,XX disorders of sex development (DSD), but there are rarely is due to maternal androgen excess such as that caused by adrenal tumors or luteoma.Recently, in addition to the classical androgen synthesis pathway, the alternative androgen synthesis by backdoor pathway and 11-oxygenated steroids has been reported for virilization of female patients with 21...

Objective: The aim of this study was to reveal the increase of BMI during later infant related to skeletal maturation in prepubertal obese boys.Subjects and Methods: The subjects were 63 Japanese 10-years old obese boys. Height and weight were measured. Bone age (BA) of left hand-wrist radiographs was assessed using RUS score of the Japanese-standardized Tanner-Whitehouse 2 method. Weight and length or height at birth, 1.5, 3 and 6 years old were obtaine...

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: Silver-Russell syndrome (SRS) is a congenital developmental disorder characterised by pre- and post-natal growth failure, relative macrocephaly, hemihypotrophy, and fifth-finger clinodactyly. Recent studies have shown that gain-of-function mutations of CDKN1C result in IMAGe syndrome (IMAGeS) characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and male genital abnormalities, whereas less severe gain-of-function mut...

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...