ESPE Abstracts

Background: It is critically important to correctly diagnose hyperinsulinemic hypoglycemia (HH) to avoid neurological sequelae. However, the diagnosis is not always easy in the critical care setting since some patients present with atypical biochemical profiles.Objective and hypotheses: To delineate the range of biochemical data of HH patients at hypoglycemia to help establish a better diagnostic criteria.Method: Biochemical data (...

Background: Approximately 70% of transient neonatal diabetes mellitus (TNDM) are caused by abnormalities in the imprinted locus at chromosome 6q24, and the remaining 30% are caused by heterozygous mutations in the KATP-channel genes, ABCC8 or KCNJ11. Only a few cases of TNDM are reported to be caused by biallelic, recessive mutations in the insulin (INS) gene.Objective and hypotheses: To explore the role of INS gene mutations as a cause of tra...

Background: Bilateral primary pigmented nodular adrenocortical disease (PPNAD) is one of the rare causes of Cushing syndrome, which has traditionally been treated by bilateral adrenalectomy. However, bilateral adrenalectomy mandates life-long adrenal hormone replacement and the patients remain at risk of adrenal failure for the rest of their lives. In adult patients with PPNAD, there have been a few reports of successful unilateral adrenalectomy. However, to our knowledge, the...

Background: Abdominal fat distributions are reportedly strongly associated with metabolic risks in type 2 diabetes mellitus. However, research on fat distribution in adolescents with type 2 diabetes mellitus has been limited.Aim: To investigate fat distribution characteristics in adolescents with type 2 diabetes mellitus for comparison to those with simple obesity in Japan.Design/Methods</s...

Introduction: Obesity is one of common complications in achondroplasia (ACH) and hypochondroplasia (HCH). Obesity can be a risk factor for excessive load on joints or lower spines in aged, worsen sleep apnea and develop a metabolic syndrome. Thus, it is critical to maintain their proper weight from early childhood. ACH specific growth charts and BMI has been used to evaluate their overweight and obesity. Due to disproportional short stature, the assessment by BMI could lead an...

Background: Advances in genetic analysis techniques has greatly contributed to recent discovery of causative genes associated with overgrowth with intellectual disability (OGID). Tatton-Brown-Rahman syndrome (TBRS) (OMIM #615879) was one of them, characterized by tall stature, a distinctive facial appearance, and intellectual disability. This syndrome was first reported in 2014. Thus, long-term clinical courses are unknown. We present our Japanese case with OGID who was diagno...

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...

Type II collagenopathy is a generic name of the skeletal dysplasia caused by COL2A1 gene, such as achondrogenesis type II, spondyloepiphyseal dysplasia (SEDC), spondyloepimetaphyseal dysplasia (SEMD). Since this is a rare disease, genotype-phenotype characteristics is still unclear. Here, we describe the genotype-phenotype characteristics of four families of type II collagenopathy in our hospital. Family 1: the proband was 2-year-old girl. She showed severe short stat...

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...