ESPE Abstracts

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and estrogen exposure is still to be elucidate...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

Background: The role of retinol binding protein 4 (RBP4) in the insulin resistance associated with obesity is still unclear and various studies have analyzed the role of its gene polymorphisms as a potential key to understanding the mechanisms involved.Aim: The current study aimed to analyze the relationship between RBP4 levels, the distribution of two SNP (rs3758539 and rs10882280) and the metabolic, anthropometric para...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Introduction: Autosomal recessive mutations in the Wolfram syndrome type 1 gene are responsible for the classical Wolfram syndrome (OMIM_ 222300), also known by the acronym "DIDMOAD" (diabetes insipidus, diabetes mellitus (DM), optic atrophy and deafness). The gene encodes wolframin, a membrane glycoprotein, which helps to regulate the calcium homeostasis in the endoplasmic reticulum of many different tissues, including the pancreatic...

Background: Pharmacologic options for treatment of osteolytic diseases especially in children are limited. Although not licensed for use, denosumab, a fully humanized antibody to RANKL, is used in children and shows good effects. Among others, one indication are giant cell tumors of the bone. Yet, there are reports of severe hypercalcemia after stop of denosumab, an adverse effect which is rarely seen in adults.Case reports: Four patients, aged 6, 13 and...

Background: Several visfatin, retinol binding protein 4(RBP4) and high affinity receptor for RBP4, STRA6 (stimulated by retinoic acid) single nuclear polymorphisms’ (SNP) have been investigated regarding their relationship with obesity with controversial results.Aim: To analyze the association of two specific SNP for visfatin, RBP4 and STRA6 with anthropometric markers of obesity in children.Material and method: A case control...

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...