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...

hrp0089rfc3.4 | Diabetes and Insulin 1 | ESPE2018

Functional Characterization of a Novel KLF11 Mutation Identified in a Family with Autoantibody-Negative Type 1 Diabetes

Ushijima Kikumi , Kawamura Tomoyuki , Ogata Tsutomu , Yokota Ichiro , Sugihara Shigetaka , Narumi Satoshi , Fukami Maki

Objectives: KLF11 is a member of the Sp1/KLF family transcription factor which contains three C2H2 zinc finger domains. To date, two KLF11 mutations (p.T220M and p.A347S) have been identified in three families clinically diagnosed with type 2 diabetes. The aim of our study is to report clinical and molecular characteristics of a KLF11 mutation-carrying family clinically diagnosed with type 1 diabetes (T1D).Methods:...

hrp0086p1-p103 | Bone & Mineral Metabolism P1 | ESPE2016

Monostotic Fibrous Dysplasia is a Single Disorder Caused by Somatic Mosaic Activating Mutations in GNAS

Shibata Hironori , Narumi Satoshi , Ishii Tomohiro , Sakamoto Yoshiaki , Nishimura Gen , Hasegawa Tomonobu

Background: Monostotic Fibrous Dysplasia (MFD) is thought to be caused by somatic mosaic activating mutations in GNAS. However, previous GNAS mutation analyses of MFD patients using direct sequencing of bone samples detected activating GNAS mutations only in 21 of 40 cases (52.5%) (Hum Pathol 2012; 43: 1234). We reported that next generation sequencing (NGS) detected somatic activating GNAS mutations sensitively from peripheral bloo...

hrp0084p1-120 | Puberty | ESPE2015

A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

Takagi Masaki , Daitsu Takashi , Numakura Chikahiko , Sato Takeshi , Narumi Satoshi , Hasegawa Tomonobu

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...

hrp0084p3-623 | Adrenals | ESPE2015

A Case of ACTH Resistance with Generalized Hyperpigmentation at Birth

Sasasaki Takako , Naoko Amano , Narumi Satoshi , Hasegawa Tomonobu , Tomita Mai , jyunichirou Okada , Shuichi Yatsuga , Koga Yasutoshi

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...

hrp0089rfc15.2 | Growth and syndromes | ESPE2018

Molecular and Clinical Analyses of Two UPD(16)mat Patients Detected by Screening of 94 Silver-Russell Syndrome Patients without Known Etiology

Inoue Takanobu , Yagasaki Hideaki , Nishioka Junko , Nakamura Akie , Matsubara Keiko , Narumi Satoshi , Nakabayashi Kazuhiko , Yamazawa Kazuki , Fuke Tomoko , Oka Akira , Ogata Tsutomu , Fukami Maki , Kagami Masayo

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...