ESPE Abstracts

Background: The standard pharmacological treatment strategy of thyroid storm according to 2016 Japan Society of Pediatric Endocrinology Guideline. Although thiamazole (MMI) is recommended be used as the first choice in Graves’ disease, the effect of propylthiouracil (PTU) to block the conversion from T4 to T3 in peripheral tissues encourages clinicians to use against thyroid storm in its very early phase, and switch to MMI later. Nevertheless, the optimal timing of the sw...

Background: Although thiamazole (MMI) is the first-line treatment for non-pregnant women with Graves’ disease, the teratogenic effects of this drug have been confirmed. Surgical anomalies known as ‘major MMI-related anomalies’ include omphalomesenteric duct remnants. This is a common difficulty when attempting to clarify whether there is any association between infrequent surgical anomalies and MMI exposure using data derived from women with Graves’ disease...

Background: The thyroid dysfunction is one of the frequently seen complications after bone marrow transplantation (BMT). Although hypothyroidism is the most common thyroid disease after BMT, hyperthyroidism is a rare condition. Herein, we report a series of 2 patients who were euthyroid before BMT but developed hyperthyroidism after transplantation.Objective: Case reports and the frequency of hyperthyroidism after BMT in our institute. Case 1:</s...

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...

Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the ...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Background: Interstitial deletions of the short arm of chromosome 11 are rare chromosomal anomalies, and are considered to be associated with several clinical conditions including WAGR syndrome.Objective: To report the clinical and molecular findings in the first case of a heterozygous 11p14.1-p15.3 deletion.Patient: A Japanese female patient was born at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth,...

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...