ESPE Abstracts

Background: Langerhans cell histiocytosis (LCH) is a rare disease with an incidence of less than 10 per million, and characterized by the clonal proliferation of pathogenic Langerhans cells. The clinical courses are diverse, ranging from spontaneously remitting single organ disease to life-threatening multisystem involvement. One of the serious complications of LCH is diabetes insipidus (DI), and patients with CNS-risk lesions had higher cumulative incidence of DI. On the othe...

Background: Hypophosphatasia (HPP) is an inherited bone disorder caused by ALPL gene mutations. It is classified into 6 clinical types (perinatal lethal form, prenatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia). Severe types show autosomal recessive inheritance, and mild types show autosomal recessive or autosomal dominant inheritance. The adult form is asymptomatic in childhood. Treatment includes ALP enzyme ...

Background: Difficulty of glycemic control varies among subjects with type 1 diabetes (T1D). Influence of residual endogenous insulin detected by serum C-peptide (CPR) levels has noted to be on glycemic control. Flush glucose monitoring (FGM) detects glucose concentration in intercellular fluid (sensor glucose) every 15 minutes to reveal daily glucose profiles.Aims: We tried to clarify the relationship between serum CPR and the excursion of blood glucose...

Objective: The aim of this study was to reveal the increase of BMI during later infant related to skeletal maturation in prepubertal obese boys.Subjects and Methods: The subjects were 63 Japanese 10-years old obese boys. Height and weight were measured. Bone age (BA) of left hand-wrist radiographs was assessed using RUS score of the Japanese-standardized Tanner-Whitehouse 2 method. Weight and length or height at birth, 1.5, 3 and 6 years old were obtaine...

Background: Nontoxic multinodular goiter (MNG) is frequently encountered in the general population, but little is known about the underlying genetic susceptibility to this disease. Recently, germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in familial MNG with and without Sertoli-Leydig cell tumor of the ovary.Objective: We reporteda family exhibiting various thyroid diseases in which a ...

Background: In Japan, diabetic screening for school children using urinalysis has been performed to detect diabetes mellitus during childhood throughout the country. However, inadequate follow-up system after urinary screening caused several problems. The rate of participation in workup examination still remains less than 30%. Also, accurate annual incidences of children with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) detected by screening of urine glu...

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...

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...

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...

Objective and hypotheses: The aim was to elucidate the mechanism underlying the extreme obesity observed in female heterozygous MeCP2 null mice fed a high-fat diet.Method: We examined the molecular biology and physiology of female heterozygous MeCP2 null mice (Mecp2tm1.1Bird/J, MeCP2+/− mice) fed a high-fat diet (HFD) for 12 weeks since 4 weeks of age using analytical tools. C57/BL6 mice were used as controls.<p class="abs...