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...

hrp0089p3-p085 | Diabetes & Insulin P3 | ESPE2018

A Sibling Case of Wolfram Syndrome with Diabetes Mellitus Diagnosed within 10 Months in Early Childhood

Suzuki Dai , Shima Hirohito , Umeki Ikumi , Kamimura Miki , Kanno Junko , Kure Shigeo , Fujiwara Ikuma

Introduction: Wolfram syndrome (WS) is a rare progressive neurodegenerative disease that shows autosomal recessive inheritance characterized by diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy and deafness. WFS1 gene encoding a protein, wolframin, which is essential to the function of the endoplasmic reticulum, is identified as main causative gene of the disease. We report here a sibling case suspected WS with insulin-dependent DM and optic atrophy in early chil...

hrp0084p2-235 | Bone | ESPE2015

Assessment of Foramen Magnum in Early Infancy is Efficient for Patients with Achondroplasia

Sogi Chisumi , Kamimura Miki , Hakoda Akiko , Kanno Junko , Fujiwara Ikuma , Kure Shigeo

Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.<p cla...

hrp0092p2-285 | Thyroid | ESPE2019

Serum PTH Does not Correlate with Their Serum Calcium Levels in Children and Adolescents with Hashimoto Thyroiditis

Shima Hirohito , Sogi Chisumi , Umeki Ikumi , Suzuki Dai , Kamimura Miki , Saito-Hakoda Akiko , Kanno Junko , Kure Shigeo , Fujiwara Ikuma

Background: Hashimoto thyroiditis (HT) is characterized by autoimmune-mediated destruction of the thyroid gland. Ca metabolism disturbance due to hypoparathyroidism among HT patients remains to be clarified.Objective: To clarify the relationship between HT and primary hypoparathyroidism.Patients and Methods: Serum levels of Ca, albumin, and whole PTH (wPTH, ECLIA) were measured in ...

hrp0092p3-27 | Adrenals and HPA Axis | ESPE2019

A Boy with Adrenal Hypoplasia Congenita without External Genital Abnormalities

Umeki Ikumi , Kanno Junko , Shima Hirohito , Suzuki Dai , Kamimura Miki , Homma Keiko , Hasegawa Tomonobu , Fujiwara Ikuma , Kure Shigeo

Background: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.Objective: Case report ona male AHC patient with no external genitalia abnormalities.Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-...

hrp0082p1-d3-186 | Pituitary | ESPE2014

A Boy with Septo-Optic Dysplasia Identified a Mutation in WDR11

Shima Hirohito , Izumi Yoko , Umeki Ikumi , Kaga Akimune , Kamimura Miki , Saito-Hakoda Akiko , Kanno Junko , Fukami Maki , Fujiwara Ikuma

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...

hrp0086p2-p387 | Gonads &amp; DSD P2 | ESPE2016

Questionnaire Surveys Targeting Japanese Pediatric Endocrinologists Regarding Reproduction in Pediatric and Adolescent Cancer Patients

Miyoshi Yoko , Yorifuji Tohru , Horikawa Reiko , Takahashi Ikuko , Nagasaki Keisuke , Ishiguro Hiroyuki , Fujiwara Ikuma , Ito Junko , Yokoya Susumu , Ogata Tsutomu , Ozono Keiichi

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), their fertility has not been clarified in Japan.Objective and hypotheses: To address this issue, we organized a working panel to compile evidence from CCSs. The team consisted of various medical specialists in foundation hospitals.Method: We had conducted the questionnaire surveys targeting pediatric endocrinologists regarding r...

hrp0094p2-10 | Adrenals and HPA Axis | ESPE2021

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Yatsuga Shuichi , Amano Naoko , Nakamura-Utsunomiya Akari , Kobayashi Hironori , Takazawa Kei , Nagasaki Keisuke , Nakamura Akie , Nishigaki Satsuki , Numakura Chikahiko , Fujiwara Ikuma , Minamitani Kanshi , Hasegawa Tomonobu , Tajima Toshihiro ,

Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1...