hrp0086p1-p373 | Gonads & DSD P1 | ESPE2016

Compound Heterozygous C10orf2 Mutations in a Japanese Patient with 46,XX Ovarian Failure and Deafness

Nagasaki Keisuke , Nyuzuki Hiromi , Sasaki Sunao , Sato Hidetoshi , Ogawa Yohei

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...

hrp0084p2-557 | Thyroid | ESPE2015

Potentially Excessive Levothyroxine Doses in Cases of Congenital Hypothyroidism with Eutopic Thyroid Gland

Satoh Hidetoshi , Nagasaki Keisuke , Ogawa Youhei , Saitoh Akihiko

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...

hrp0092fc3.1 | Multi-system Endocrine Disorders | ESPE2019

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report

Fukami Maki , Miyado Mami , Takada Shuji , Sasaki Goro , Nagasaki Keisuke , Masunaga Youhei , Saitsu Hirotomo , Ogata Tsutomu

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...

hrp0092p2-249 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

11-Oxygenated Androgens May be Related to the Virilization of Female External Genitalia Due to the Maternal Androgen-Producing Adrenal Tumor

Nagasaki Keisuke , Takase Kaoru , Tani Tomoyuki , Nyuzuki Hiromi , Ogawa Yohei , Numakura Chikahiko , Honma Keiko , Hasegawa Tomonobu

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...

hrp0089p1-p116 | Fat, Metabolism and Obesity P1 | ESPE2018

Rapid BMI Gain During Later Infant Accelerates Skeletal Maturation at Prepubertal Obese Children

Kikuchi Toru , Nagasaki Keisuke , Ogawa Yohei , Abe Yuki , Musha Ikuma , Ohtake Akira

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...

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 ...

hrp0084p1-90 | Growth | ESPE2015

Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C

Nakashima Shinichi , Kato Fumiko , Kosho Tomoki , Nagasaki Keisuke , Kikuchi Toru , Kagami Masayo , Fukami Maki , Ogata Tsutomu

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...

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...