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 ...

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 ...

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-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:...

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...

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...

hrp0095p2-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Overlooking hypoparatahyroidism in an 11-year-old boy patient with CHARGE syndrome

Sasaki Fusako , Kojima Kanako , Sasaoka Daiki , Koga Nobuhiko , Yatsuga Shuichi , Nagamitsu Shinichiro

Introduction: CHARGE syndrome is characterized with coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia and ear abnomalities. Recently, symptoms of CHARGE syndrome and 22q11.2 deletion syndrome were known to overlap. We describe a case of CHARGE syndrome that has variation in the CHD7 gene with hypoparathyroidism.Case Report: The patient is an 11-year-old boy who was bor...

hrp0095p2-73 | Diabetes and Insulin | ESPE2022

Recurrent glycogenic hepatopathy in an 11-year-old boy with poor glycemic controlled type 1 diabetes mellitus

Sasaoka Daiki , Kojima Kanako , Koga Nobuhiko , Sasaki Fusako , Tanaka Yukari , Yatsuga Shuichi , Nagamitsu Shinichiro

Introduction: Glycogenic hepatopathy (GH) is a rare diabetic complication that induces hepatomegaly and elevated transaminases, which can often appear in type 1 diabetes mellitus (T1DM) with poor glycemic control. GH appears when excess glycogen accumulates in the liver through continued hyperglycemia with intensive insulin therapy. We show a pediatric case of recurrent GH due to poor glucose controlled with complicated family environment and mildly intellectu...

hrp0095p2-155 | GH and IGFs | ESPE2022

Poor efficacy of growth hormone treatment in a patient with fetal alcohol syndrome

Koga Nobuhiko , Sasaoka Daiki , Tanaka Yukari , Sasaki Fusako , Yatsuga Shuichi , Nagamitsu Shinichiro Nagamitsu Shinichiro

Fetal alcohol syndrome (FAS) is established based on the presence or absence of characteristic facial features, prenatal/postnatal growth deficiency (height and/or weight < 10th percentile), deficient brain growth, neurobehavioral impairment, and maternal alcohol consumption during pregnancy. There have been no reports of growth hormone (GH) treatment in FAS; therefore, we report a case of GH treatment on FAS for small for gestational (SGA) short stature. The patient was a ...