ESPE Abstracts

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: LDL cholesterol (LDL-C) levels can be high in familial hypercholesterolemia or other dyslipidemia, and the elevated levels are often found in the pediatric setting.Objective: To create a pediatric reference using data of a prospective birth cohort study at our hospital (Seiiku Cohort for Children and Mothers) and to examine its association with possible predisposing factors.Resu...

Background: Congenital nephrogenic diabetes insipidus is a rare disease that is sometimes diagnosed after failure to thrive or febrile illness during infancy. Long-term habitual polydipsia to compensate for polyuria is sometimes difficult to distinguish from habitual polydipsia and polyuria or compulsive drinking.Case: The case is a 10-year-old girl. Her father was diagnosed as having congenital nephrogenic diabetes insi...

Background: There are few reports on age-related differences in urinary iodine concentrations, which reflect iodine intake.Objective: We investigated the relationship between age-related differences in urinary iodine concentration and thyroid function.Methods: The subjects were 749 children aged 1 year, 677 children aged 3 years (excluding 2 children aged 3 years whose urinary iodi...

Background: It is sometimes difficult to diagnose and manage fluid and electrolyte imbalance after surgery for hypothalamic/pituitary tumors. We present a pediatric case of severe SIADH successfully treated with tolvaptan after suprasellar tumor resection.Case: The case was 8-year-old girl with growth failure. She was found to have suprasellar tumor on CT scan when she accidentally fell down and hit her head. MRI suggest...

Background: Progeria syndromes caused by LMNA gene variants consist of Hutchinson-Gilford progeria syndrome (HGPS) and Atypical progeroid syndrome (APS). Various phenotypes of APS are previously reported, whereas HGPS shows relatively unique phenotype.Objective: To investigate the spectrum of clinical manifestations in three cases of Progeria syndrome.Methods: The history ...

Case: The case is a 19-year-old woman. Her chief complaint is primary amenorrhea. She was born at 40 weeks of gestational age. Birth weight was 2456 g and birth height was 47 cm and she was admitted to the hospital due to abnormality of facial formation, post-nasal cavity closure and respiratory disorders. Her motor development was delayed (standing at 3 years old, walking at 5 years old) and she underwent plastic surgery for 6 times. On admission her height was 151.6 cm (&#87...

Hyperinsulinism is a common cause of persistent hypoglycemia beyond infancy. Mutations in the ABCC8/KCNJ11 genes are the most common aetiology of congenital hyperinsulinism (CHI), leading to KATP channel mutation. This results in an inappropriate insulin secretion irrespective of hypoglycaemia. This is a cross-sectional study of the patients attending the paediatric endocrinology unit at the National Centre for Child Health & Development (NCCHD), Tokyo, Japan from March 20...