hrp0084p3-958 | GH & IGF | ESPE2015

The Correlation between the Increase in IGF1 24 h after the First Injection of GH and the Improved Growth

Miyako Kenichi , Mushimoto Yuichi , Kawano Atsuko

Background: IGF1 is a biomarker of GH, and is often used to titrate the dose of GH therapy. However, IGF1 production is regulated by not only GH but also other factors.Objective and hypotheses: We investigated whether the increase in IGF1 at several time points after the commencement of GH therapy could be a predictive factor for the improved growth.Method: We studied 45 pre-pubertal patients with GH deficiency (GHD) that had conti...

hrp0084p3-946 | GH & IGF | ESPE2015

The Correlation between the Increase in IGF1 and the Growth Improvement Induced by GH Treatment in Short Children Born Small for Gestational Age

Hattori Atsushi , Eto Junya , Kawano Atsuko , Miyako Kenichi

Background: IGF1 is an important marker of GH treatment and is used to titrate the GH dose.Objective and hypotheses: We report the correlation between the GH treatment induced increase in IGF1 and growth improvement in short children born small for gestational age (SGA).Method: We recruited 13 pre-pubertal SGA children (eight boys, five girls) who received GH treatment. Eight continued treatment for >2 years. We retrospectively...

hrp0097p2-35 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A case of congenital central hypothyroidism with complete growth hormone deficiency caused by a novel nonsense mutation in the IGSF1 gene.

Miyako Kenichi , Furuzono Miwa , Tsukada Hiroko , Makimura Mika , Shibata Nao , Nagasaki Keisuke

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...

hrp0097p1-10 | Adrenals and HPA Axis | ESPE2023

Endocrinological, genetic and immunological features of a long-term survivor with MIRAGE syndrome

Furuzono Miwa , Makimura Mika , Miyako Kenichi , Tanase-Nakao Kanako , Narumi Satoshi , Hagiwara Hidetoshi , Mitsui-Sekinaka Kanako , Moriya Kunihiko , Imai Kohsuke

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...