ESPE Abstracts

Background: Although the beneficial effects of GH treatment on statural growth are well known, the impacts on skeletal maturation are not fully understood. In the current study, we aimed to investigate the progression of bone age (BA) in children with idiopathic GH deficiency (iGHD) and idiopathic short stature (ISS) based on a LG Growth Study (LGS). We also evaluated the progression rate of BA relative to chronologic age (CA) between iGHD and ISS and to find their associated ...

Background & objective: The occurrence of CPP seems to be increasing in our clinical practice thesedays. It is known that CPP causes socio-psychological disturbances relating to early pubertal changes and finally leads to a significant decrease in the final adult height because of premature closure of the growth plate. This study was conducted to see major factors affecting to the bone maturation, which is closely related to the final adult height in girls with CPP.<p ...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

Background: Childhood pineal and/or suprasellar intracranial germ cell tumours (IGCT) are highly curable (>90%) with neuraxial radiation alone; international (SIOP) trials have aimed to decrease late radiation-induced neuroendocrine morbidity by substituting chemotherapy. However, without longitudinal study, disease and treatment contributions to long term outcomes remain unknown.Objective: To define tumour and treatment factors implicated in neuroen...

Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

Background: Few studies have investigated the long-term effects of gonadotropin releasing hormone (GnRH) agonist treatment on reproductive function.Objective and hypotheses: We assessed ovarian function by analyzing serum anti-mullerian hormone (AMH) levels in central precocious puberty (CPP) girls according to GnRH agonist-treatment timing.Method: Our study included 505 CPP girls subdivided into five groups based on the timing of ...

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...

Background: Hypophosphatemic rickets (HR) are rare, inheritable disorders caused by excessive renal phosphate wasting. Despite a generalized mineralization defect, patients with HR are reported with a lower risk of fracture.Objective and hypotheses: The aim of this study was to evaluate the effect of bone -geometry, -microarchitecture and volumetric BMD (vBMD) on the estimated bone strength in adult patients with HR using high-resolution peripheral quant...

Context: It has recently been shown that mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP.Methods: Two hundred and sixty Korean girls with idiopathic CPP were included in this study. Auxological and endocrine parameters were measured. The entire MKRN3 gene was directly seque...