ESPE Abstracts

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...

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...

Background: Fibroblast growth factor 23 (FGF23) decreases renal phosphate reabsorption and serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. X-linked hypophosphatemic rickets (XLH) is caused by mutations in the PHEX gene and accompanied by decreased serum inorganic phosphate (IP) and elevated serum FGF23 levels. Patients with XLH are generally treated with oral active vitamin D and phosphate, but some previous reports indicated that serum FGF23 levels increased with ...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a group of rare disorders responsible for insufficient secretion of the pituitary gonadotropins LH and FSH. We have observed CHH in men with poorer responses to human chorionic gonadotropin (hCG), or combined FSH and hCG for testicular maturation and fertility after adolescence.Objective and hypotheses: The purpose of this research is to clarify how best to tailor-make treatment according to t...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is a congenital heterogeneous disorder characterized by a deficiency of gonadotropin-releasing hormone. IHH can be categorised as IHH with anosmia/hyposmia (Kallmann syndrome: KS) or as normosmic (n)IHH. More than 25 genes have been identified in IHH. Nevertheless, patients with IHH are genetically diagnosed in only less than 50%.Objective: The objective of this study is to confirm the applicatio...

Background: While reports of hypopituitarism resulting from traumatic brain injury are increasingly common in European countries, long-term clinical courses are scarcely documented. We here present Japanese 31-year-old case with hypopituitarism caused by traumatic brain injury at the age of 5 months.Objective and hypotheses: To clarify the evolution of clinical and endocrinological data for 30 years in this patient. We hypothesize that the evolution prog...

Background: The IGF1 receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (15q26.3). Heterozygous inactivating mutations of the IGF1R gene cause intrauterine and postnatal growth failure and mental retardation.Objective: The purpose of this research is to determine the most effective GH treatment for patients with IGF1R haploinsufficiency due to heterozygous deletion.Method: We investigated the clinical course o...

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

Background: Aminoacyl tRNA synthetases (ARSs) are enzymes that bind amino acids to tRNAs, and many of their genetic variants are known to be pathogenic. Asparaginyl Aminoacyl tRNA synthetase (NARS1) deficiency was first reported as a cause of microcephaly in 2020. NARS1 deficiency is characterized by microcephaly, psychomotor retardation, epilepsy, congenital abnormalities of the limbs and skeleton, and a peculiar facial appearance. However, there have been no...

Background: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized with hypertrichosis cubiti, dysmorphic facial appearance (hypertelorism, thick eyebrows, and narrow palpebral fissures), psychomotor delay, and short stature. WSS is caused by a mutation in the KMT2A gene. The timing of secondary sexual characteristics in patients with WSS is not well known. To our knowledge, two patients (one boy and one girl) with W...