hrp0082p3-d3-920 | Pituitary (1) | ESPE2014

A Case of Hypopituitarism Caused by Traumatic Brain Injury in Infancy

Higuchi Shinji , Nishina Noriko , Takagi Masaki , Hasegawa Yukihiro

Background: While reports of hypopituitarism resulting from traumatic brain injury are increasingly common in European countries, long-term clinical courses are scarcely documented. We here present Japanese 31-year-old case with hypopituitarism caused by traumatic brain injury at the age of 5 months.Objective and hypotheses: To clarify the evolution of clinical and endocrinological data for 30 years in this patient. We hypothesize that the evolution prog...

hrp0084p3-1204 | Thyroid | ESPE2015

Use of Liothyronine in a Case of Consumptive Hypothyroidism Caused by Hepatic Hemangiomas

Higuchi Shinji , Takagi Masaki , Goto Masahiro , Hasegawa Yukihiro

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

hrp0097fc9.5 | Diabetes and insulin 2 | ESPE2023

A case of NARS1 deficiency resulting in diabetes mellitus with liver cirrhosis and pancreatic atrophy

Higuchi Shinji , Kitayama Kana , Yorifuji Tohru , Mori Jun

Background: Aminoacyl tRNA synthetases (ARSs) are enzymes that bind amino acids to tRNAs, and many of their genetic variants are known to be pathogenic. Asparaginyl Aminoacyl tRNA synthetase (NARS1) deficiency was first reported as a cause of microcephaly in 2020. NARS1 deficiency is characterized by microcephaly, psychomotor retardation, epilepsy, congenital abnormalities of the limbs and skeleton, and a peculiar facial appearance. However, there have been no...

hrp0089p2-p022 | Adrenals and HPA Axis P2 | ESPE2018

Unilateral Adrenalectomy for Primary Pigmented Nodular Adrenocortical Disease Causing Cushing Syndrome

Higuchi Shinji , Kawakita Rie , Hosokawa Yuki , Yamada Yuki , Oyachi Maki , Matsumura Kana , Yorifuji Tohru

Background: Bilateral primary pigmented nodular adrenocortical disease (PPNAD) is one of the rare causes of Cushing syndrome, which has traditionally been treated by bilateral adrenalectomy. However, bilateral adrenalectomy mandates life-long adrenal hormone replacement and the patients remain at risk of adrenal failure for the rest of their lives. In adult patients with PPNAD, there have been a few reports of successful unilateral adrenalectomy. However, to our knowledge, the...

hrp0089p2-p069 | Diabetes & Insulin P2 | ESPE2018

Features of Japanese Patients with Early-Onset, Mody-Like Diabetes without Mutations in the Major Mody Genes

Yorifuji Tohru , Kawakita Rie , Higuchi Shinji , Yamada Yuki , Ohyachi Maki , Matsumura Kana

We perfomed mutational analyses of the major MODY genes (HNF1A, HNF4A, HNF1B, GCK) on 263 Japanese patients with early-onset, nonobese, MODY-like diabetes mellitus referred to Osaka City General Hospital for diagnosis. Mutations were identified in 103 (35.9%) patients; 57 mutations in GCK; 29, HNF1A; 7, HNF4A; and 10, HNF1B. Compared with these mutation-positive patients, 160 mutation-negative patients were significantly older (P=0.003), and had high...

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...

hrp0092p1-290 | Thyroid (1) | ESPE2019

Prediction of Permanent and Transient Congenital Hypothyroidism Based on Levothyroxine Dosages in Long-Term Follow-Up Patients: A Multicenter Retrospective Study in Japan

Higuchi Shinji , Itonaga Tomoyo , Shimura Kazuhiro , Nagasaki Keisuke , Satoh Mari , Takubo Noriyuki , Takahashi Ikuko , Sawada Hirotake , Hasegawa Yukihiro

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...