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...

Aim: to assess and follow-up anthropometric and biochemical parameters in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an intensive phase duri...

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: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

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: Life expectancy of children with human immunodeficiency virus (HIV) has increased due to highly active antiretroviral therapy. Metabolic disorders and changes in bone mineral density (BMD) are common in adult patients with HIV. There are few studies evaluating metabolic and bone involvement in children.Objective and hypotheses: To evaluate metabolic disorders and BMD in vertically HIV-infected children in four Chilean hospitals.<p class="...

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...