ESPE Abstracts

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...

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 ...

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...

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...

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...

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 ...

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:...

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...

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...

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...