hrp0098p3-179 | Growth and Syndromes | ESPE2024

Brazilian children with severe short stature and Batter syndrome type 3: a case series

Malaquias Alexsandra , Novaes Andrea , Augusto Jorge Alexander , de Andrade Nathalia , Avelino Vivian , Ayonan Marcella , Jose Sousa Randerson , Nascimento Daniel , Nishikawa Yuka , Izabel Gonçalves Maria

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...

hrp0082p2-d3-386 | Fat Metabolism & Obesity (2) | ESPE2014

Miglitol Upregulates Uncoupling Protein 1 (ucp1) by Enhancing β3-Adrenergic Signaling in Mature Brown Adipocytes of Rat

Sugimoto Satoru , Nakajima Hisakazu , Nishikawa Taichiro Nishikawa , Kodo Kazuki , Itoh Ikuyo , Kosaka Kitaro , Hosoi Hajime

Introduction: We previously reported that miglitol, an alpha-glucosidase inhibitor (α-GI), increases energy expenditure by enhancing β3-adrenergic signaling of brown adipose tissue (BAT) and reduces obesity in dietary-induced obese mice (S Sugimoto et al, at the 9th joint meeting of Pediatric Endocrinology, 2013) (Nutrition & Metabolism). However, this report did not describe the mechanism by which miglitol enhances β3-adrenergic signaling....

hrp0092p1-115 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Mutation Screening of the Sonic Hedgehog Signaling-Related Genes in 120 Japanese Patients with Congenital Hypopituitarism

Takagi Masaki , Sato Takeshi , Fujiwara Ikuma , Nagashima Yuka , Narumi Satoshi , Ishii Tomohiro , Hasegawa Tomonobu

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

hrp0084p3-1110 | Pituitary | ESPE2015

Two Cases of Combined Pituitary Hormone Deficiency Proven to have Mutations of GLI2

Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Sato Takeshi , Ishii Tomohiro , Hasegawa Tomonobu

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...

hrp0084p3-1073 | Hypo | ESPE2015

Auxological Characteristics of Persistent Hyperinsulinemic Hypoglycemia at Birth

Shibata Hironori , Yamada Mamiko , Ishii Tomohiro , Matsuzaki Yohei , Ikeda Kazushige , Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Hasegawa Tomonobu

Background: Most infants with persistent hyperinsulinaemic hypoglycaemia (PHH) are born large for gestational age (LGA) due to excessive anabolic effect of prenatal hyperinsulinism. However, other auxological characteristics than weight in infants with PHH have not been described well.Objective: The objective of this investigation was to characterize anthropometric parameters at birth (weight, length, and head circumference) in PHH compared with those in...

hrp0086p1-p459 | Fat Metabolism and Obesity P1 | ESPE2016

Erythropoietin Activates Classical Brown Adipose Tissue Through the Erythropoietin Receptor/STAT3 Pathway, Improving Obesity and Glucose Homeostasis in High Fat Diet-induced Obese Mice

Kodo Kazuki , Nakajima Hisakazu , Sugimoto Satoru , Itoh Ikuyo , Syota Fukuhara , Shigehara Keiichi , Nishikawa Taichiro , Mori Jun , Kosaka Kitaro , Hosoi Hajime

Background, aims and objectives: We hypothesized that classical brown adipose tissue (cBAT) could play a crucial role in the anti-obesity effects of erythropoietin (EPO). Our study highlights the mechanism in which EPO treatments could upregulate energy expenditure and improve glucose homeostasis through cBAT in obese mice fed with a high-fat diet (HFD).Method: C57BL/6J mice had been fed with HFD since the age of 4 weeks (HFD mice). We administered recom...

hrp0098p3-289 | Late Breaking | ESPE2024

Three cases of neonatal diabetes mellitus with different clinical courses

Wada Yasunori , Takahashi Akio , Kondo Daiki , Shimodate Ai , Ishikawa Ken , Chida Yutarou , Akasaka Manami

Background and Purpose: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycaemia and is usually diagnosed in the first six months of life. Genetic diagnosis helps distinguish among its different causes and between transient and permanent forms, and the diagnosis has repercussions for the therapeutic approach and follow-up. We present three cases of NDM with different genetic abnormalities and different clinical courses....