ESPE Abstracts

Background: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed by OPKO Biologics for once-weekly administration in growth hormone-deficient (GHD) adults and children.Objective and hypotheses: The 24-month efficacy of once-weekly subcutaneous (SC) administration of MOD-4023 was evaluated in a Phase 2 study in G...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

Introduction: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM). Previously, two patients diagnosed with DM in adolescence and had homozygous GCK mutations were reported. Variants in these patients have been shown to exhibit inactivated kinetics that are indistinguishable from neonatal ons...