hrp0082p1-d2-73 | Diabetes (1) | ESPE2014

A Novel Mutation of wfs1 Gene in a Japanese Infant of Diabetes Mellitus, Deafness, and Congenital Cataract

Morikawa Shuntaro , Nakamura Akie , Ishizu Katsura , Kumaki Satoru , Tajima Toshihiro

Introduction: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by the association of early-onset, insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and progressive optic atrophy. The disease is caused by mutations of wfs1 located on 4p16 encoding peptide that is called wolframin. Wolframin is a component of the endoplasmic reticulum (ER) membrane. It is considered that mutant Wolframin might cause increased misfolded and...

hrp0082p2-d2-280 | Adrenals & HP Axis (1) | ESPE2014

A 26-Day-Old Japanese Girl with Aldosterone Synthase Deficiency Caused by a Novel Mutation in the CYP11B2 Gene

Koyama Satomi , Tsuboi Tatsuo , Shimura Naoto , Nakamura Akie , Tajima Toshihiro , Arisaka Osamu

Background: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease, presenting with salt wasting and failure to thrive in early infancy. It is caused by inactivating mutations of the CYP11B2 gene.Objective and hypotheses: Our objective was to describe a Japanese patient with ASD, who presented with failure to thrive and salt wasting.Method: We present a case report and investigate molecular analysis of CYP11B2 ...

hrp0092rfc12.3 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Imprinting Defects and Copy Number Variations in Short Children Born Small for Gestational Age

Kagami Masayo , Nakamura Akie , Inoue Takanobu , Kawashima Sayaka , Hara Kaori , Fuke Tomoko , Mastubara Keiko , Fukami Maki , Ogata Tsutomu

Abnormal expression of imprinted genes leads to imprinting disorders (IDs). Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS) are representative IDs showing small for gestational age and short stature (SGA-SS).Temple syndrome (TS14) caused by abnormal gene expression at the 14q32.2 imprinted region, maternal uniparental disomy of chromosome 6 (UPD(6)mat), 16 (UPD(16)mat), and 20 (UPD(20)mat) are also associated with SGA-SS. Fuethermore, some copy number variations ...

hrp0086rfc15.2 | Late Breaking | ESPE2016

NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function

Shima Hirohito , Yatsuga Shuichi , Nakamura Akie , Sano Shinichiro , Sasaki Takako , Katsumata Noriyuki , Suzuki Erina , Ogata Tsutomu , Fukami Maki

Background: While hemizygous NR0B1 (DAX1) mutations usually lead to adrenal crisis during infancy or early childhood, p.Gln37*, p.Trp39*, and some other mutations result in late-onset or latent adrenal insufficiency. A small percentage of boys with NR0B1 mutations develops precocious puberty in addition to adrenal insufficiency.Objective and hypotheses: To report a boy with an NR0B1 mutation who exhibited central precocious puberty without adren...

hrp0097t1 | Section | ESPE2023

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Urakawa Tatsuki , Sano Shinichiro , Narusawa Hiromune , Kawashima Sayaka , Nakamura Akie , Matsubara Keiko , Dateki Sumito , Fukami Maki , Ogata Tsutomu , Kagami Masayo

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

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...

hrp0084p1-95 | Growth | ESPE2015

Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype

Kagami Masayo , Matsubara Keiko , Sano Shinichiro , Nakamura Akie , Mizuno Seiji , Hamajima Naoki , Yanagisawa Atsuhiro , Hashimoto Miyuki , Yukote Akira , Fukami Maki , Ogata Tsutomu

Background: Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterised by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactyly. Hypomethylation of the H19-DMR and maternal uniparental disomy chromosome 7 (UPD(7)mat) were identified in about 30 and 10% of SRS patients respectively. Genetic causes of the remaining 60% of the patients are unknown. Growth failure, small hands, and hypo...

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...

hrp0097rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon insertion in the GNAS locus.

Kagami Masayo , Kawashima Sayaka , Yuno Akiko , Sano Shinichiro , Nakamura Akie , Ishiwata Keisuke , Kawasaki Tomoyuki , Hosomichi Kazuyoshi , Nakabayashi Kazuhiko , Akustu Hidenori , Saitsu Hirotomo , Fukami Maki , Usui Takeshi , Ogata Tsutomu

Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele. To ou...

hrp0092p3-54 | Diabetes and Insulin | ESPE2019

Relationship Between Chloride Infusion and Base Excess in Initial Treatment of Pediatric Diabetic Ketoacidosis

Sawano Kentaro , Nagamatsu Fusa , Shimura Kazuhiro , Abe Yuki , Izumita Yukie , Ogawa Yohei , Komatsu Nagisa , Takishima Shigeru , Nakamura Akie , Nyuzuki Hiromi , Yamaguchi Takeshi , Muroya Koji , Watanabe-Yamamoto Sayaka , Nagasaki Keisuke , Saitoh Akihiko , Hasegawa Yukihiro

Background: In initial treatment of DKA, volume expansion should begin with 0.9% saline to restore the peripheral circulation. The use of large amounts of chloride-rich/bicarbonate-free fluids may cause the rapid development of hyperchloremic metabolic acidosis, which is described in ISPAD Clinical Practice Consensus Guidelines 2018.The severity of DKA, defined by pH, HCO3- Base Excess (BE), is one of the factor...