hrp0082p1-d1-137 | Growth | ESPE2014

Growth Differentiation Factor 15 and Fibroblast Growth Factor 21: Novel Biomarkers for Mitochondrial Diseases

Yatsuga Shuichi , Koga Yasutoshi

Background: Multiple organ dysfunction occurs in mitochondrial diseases (MDs). MDs are sometimes difficult to diagnose, because patients have solitary and/or combination of various symptoms including short stature, diabetes, myopathy, and seizure. Since plasma levels of lactate and pyruvate are not always the perfect biomarker for MDs, there are many pseudo-mitochondrial patients who are suspect for MDs. Diagnosis for MDs often requires muscle biopsy, gene analysis, and measur...

hrp0086p1-p885 | Thyroid P1 | ESPE2016

Elevation of Serum Fibroblast Growth Factor 21 in Congenital Hypothyroidism

Yatsuga Shuichi , Sasaki Takako , Ushijima Kikumi , Kitamura Miyuki , Kota Yasutoshi

Background: Fibroblast growth factor 21 (FGF21) is one of the FGF superfamily, which regulates energy expenditure, glucose metabolism and lipid metabolism. FGF21 elevates of glucose uptake in peripheral tissues, and regulates body temperature in brown adipose tissue.Objective and hypotheses: This study is to reveal which endocrine diseases in children has elevation of FGF21.Method: We collected blood from 253 endocrine diseases in ...

hrp0084p3-1227 | Thyroid | ESPE2015

A 7 Month-Old Male Infant with Spontaneous Transient Graves’ Thyrotoxicosis

Yatsuga Shuichi , Sasaki Takako , Ushijima Kikumi , Nishioka Junko , Koga Yasutoshi

Background: Graves’ disease (GD) is most prevalent autoimmune disorder in adult. The annual incidence in adult woman is approximately 0.5 in 1 000, and in adult men is one tenth as common as in women. GD is rare in children, with an annual incidence of 0.8 in 100 000, and with six times more common in girls, thus, GD in boys is very rare. An annual incidence of GD under 10 year-old is extremely rare. Spontaneous transient thyrotoxicosis with pregnancy is sometimes happene...

hrp0089p2-p272 | Growth & Syndromes P2 | ESPE2018

Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome

Yatsuga Shuichi , Kagami Masayo , Matsubara Keiko , Kimura Takuro , Yatsuga Chiho , Mukasa Rio , Matsumoto Takako , Koga Yasutoshi

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

hrp0089p2-p013 | Adrenals and HPA Axis P2 | ESPE2018

A First Combination Case of 21-Hydroxilase Deficiency and CHARGE Syndrome Confirmed by Genetic Analysis

Kitamura Miyuki , Katoh-Fukui Yuko , Fukami Maki , Yatsuga Shuichi , Matsumoto Takako , Nishioka Junko , Koga Yasutoshi

Introduction: 21-hydroxilase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Mutations of CYP21A2 induces 21OHD, a rare autosomal recessive manner. CHARGE syndrome (CS) is a rare autosomal dominant manner that is typically caused by heterozygous chromodomain helicase DNA binding protein-7 (CHD7) mutations. Here, we report the combination cases with genetically diagnosing 21OHD and CS at the first time.Case:...

hrp0092p2-230 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Incidence and Diagnostic Factors of Polydipsia and Polyuria: A Single Center Survey in Japan

Kitamura Miyuki , Yatsuga Shuichi , Nishioka Junko , Matsumoto Takako , Umino Satoko , Kawano Atsuko , Saiki Reo , Tanaka Yukari , Koga Yasutoshi

Introduction: Polydipsia and polyuria are one of the common chief complaints in the field of pediatric endocrinology. The differential diagnosis of polydipsia and polyuria are various diseases including diabetes mellitus (DM), central diabetes insipidus (CDI), and primary polydipsia (PP). Although DM is not difficult to diagnose, between DI and PP is sometimes difficult.Aim: The objective of our study is to reveal the in...

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...

hrp0082p2-d1-540 | Puberty and Neuroendocrinology | ESPE2014

A Novel Mutation at a Splice Acceptor Site of WDR11 in a Patient with Combined Pituitary Hormone Deficiency

Izumi Yoko , Suzuki Erina , Yatsuga Shuichi , Sano Shinichiro , Nakabayashi Kazuhiko , Umezawa Akihiro , Hata Kenichiro , Ogata Tsutomu , Fukami Maki , Yoshimura Yasunori

Background: WDR11 has recently been reported as one of the causative genes of hypogonadotropic hypogonadism (HH). To date, five missense mutations in WDR11 have been identified in six patients with normosmic isolated HH (nIHH) or Kallmann syndrome (KS).Methods: We performed mutation screening of WDR11 for 46 cases with various types of HH. RT-PCR was carried out for a patient with a mutation. The protein structure of the mutant...

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...

hrp0082p3-d2-971 | Sex Development (1) | ESPE2014

A Case of 46,Y,dup(x)(p21.2p22.2) DSD Caused by Overexpressed DAX1

Takako Sasaki , Youko Izumi , Maki Fukami , Shuichi Yatsuga , Yasutoshi Koga

Introduction: DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) plays an important role in developing the adrenal gland and testis during embryonic stage. On the other hand, overexpressed DAX1 causes 46,XY disorders of sex development (DSD), in which patients often have short stature, mental retardation, and telecanthus. Here we report a case of 46,Y,dup(X)(p21.2p22.2) DSD caused by overexpressed DAX1.Case ...