ESPE Abstracts

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

Background: In the past, the majority of the pacients with Type 1 Diabetes (DM1) had late puberty due to hipogonadotropic hipogonadism as a result of insulin deficiency. However, the use of intensive insulin therapy nowadays, results in higher BMI what can lead to an earlier puberty. Insulin administered subcutaneously is not processed by the liver, which implies increased exposure to this hormone in the ovary leading to greater activation of theca and granulo...

Introduction: X-linked hypophosphatemia (XLH), due to PHEX mutation, is the most common genetic form of rickets in children. This rare disease is characterized by decreased tubular reabsorption and increased renal loss of phosphorus due to increased FGF-23 levels. In children, XLH is often manifested by short stature, rickets and bowel limbs deformity. Conventional treatment with oral phosphorus salts and calcitriol is not always well tolerated which has a pro...

Precocious Puberty is defined by the onset of pubertal development at an age 2-2,5 standard deviations earlier than the normal population. Central Precocious Puberty (CPP) is diagnosed when the hypothalamic-pituitary axis is activated. Gonadotropin-releasing hormone analogues (Gn-RH analogues) are the main treatment option, but sometimes controversial. Whether this treatment influences children's body mass index (BMI) and a different BMI progression is still unclear.<p...

Introduction: Type 1 diabetes mellitus (1DM) has well known long term vascular and neuropathic complications. It has also been described a positive effect of good glycemic control on physical growth and pubertal development, achieved with improvement of insulin-therapy.Aim: To evaluate the effect of functional insulin-therapy on final height in children with type 1 diabetes mellitus.Methods: Retrospective analysis of a cohort of po...

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatric age. The most common manifestation in children is growth delay with decreased height velocity. Symptoms can be insidious and, if not identified ant treated, result in short stature.Aim: To evaluate stature catch-up after replacement therapy in children with primary acquired hypothyroidism.Methods: Retrospective study of all children with primary acquired hypothy...

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...

Introduction: Noonan syndrome (NS) is one of a group of diseases known as rasopathies, which share a common molecular substrate: alterations in the RAS-MAPK signaling pathway. NS is characterized by clinical and genetic heterogeneity. Up to 50% of cases are caused by variants in the PTPN11 gene, although more than 10 genes have been identified as involved in the pathogenesis of this disease with marked clinical overlap.Objectives...

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...