Endocrine Abstracts

Aim: The sex hormones initiate profound physical and physiological changes during early puberty, but to what extent are they responsible for continuing the body composition changes of late adolescence? We aimed to examine the effect on body composition of sudden sex hormone withdrawal to gain insight into their action.Patients and Methods: Thirty six healthy phenotypically and chromosomally normal postpubertal individuals aged 15–17 years with gende...

Introduction: Multiple Endocrine Neoplasia Syndrome 2B (MEN 2B) is a very rare genetic disorder which affects the thyroid and the adrenal glands, the development of mucosal neuromas and the general appearance of the patient’s body. Therefore, we can encounter Medullary Thyroid Carcinomas (MTC), adrenal sympathetic paragangliomas (or Pheochromocytomas) and habitus Marfanoid. The disease represents a challenge for every clinician, especially if it occurs in a child.<p c...

Introduction: Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive heterotopic ossification (HO), from skin and subcutaneous tissues into deep skeletal muscles. Most cases are caused by heterozygous inactivating mutations of GNAS gene. Related disorders are Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and primary osteoma cutis. Distinction from other GNAS-based conditions is made by the extension of HO from superficial ...

Introduction: Kisspeptins and their cognate receptor GPR-54 (Kiss-1) were found to be regulators of the hypothalamo-pituitary–gonadal axis. It is under debate if the onset of central precocious puberty (CPP) could be triggered by early increase of kisspeptin. We aimed to assess serum kisspeptin levels in girls in order to evaluate its potential as a reliable biochemical marker for differential diagnosis of CPP.Materials and methods: The girls enroll...

Background: The prevalence of precocious puberty (PP) and its relationship to optic pathway tumours in patients suffering from neurofibromatosis type 1 (NF1) is significantly greater than in normal population.Objectives: We present a rare case of precocious puberty in neurofibromatosis type 1 which is not associated with optic pathway tumour but with a tuber cinereum hamartoma.Case report: We present the case of a 5-year and 5-mont...

Insulin resistance is possibly playing an underlying pathogenic role in the polycystic ovary syndrome (PCOS) and although is not a part of its definition, it appears in 50-90% of PCOS women. Polycystic ovary syndrome is also frequently associated with obesity; women suffering of PCOS seem to be at a great risk of developing a metabolic syndrome.Objectives: The aim of our study was to determine the prevalence of the metabolic syndrome in a population of 4...

Introduction: Carney complex is a rare autosomal dominant genetic disorder which develops secondary to mutation in the PRKAR1A gene located in the 17q22-24 region. It is commonly characterised by the association between spotty skin pigmentation, cardiac myxoma and secretory endocrine tumors.Case presentation: A 15.8-year-old boy known with PRKAR1A mutation diagnosed based on his personal history – cutaneous papiloma of the neck resected at the age o...

Neurofibromatosis 1 (NF1) is a rare disease determined by mutations in the RAS-MAPK pathway. It can cause precocious or delayed puberty.Case 1: A 11 years 9 months old girl known with Neurofibromatosis – Noonan Syndrome (NF-NS) was admitted for severe growth deficit (-5.14 SDS). She had over 20 café au lait spots, hypertelorism, pterigium colli, B1 P1. At 18 months she had had surgery for pulmonary stenosis and after that a left ventricular tum...

Background: Low-serum concentrations of 25(OH)-vitamin D are associated with insulin resistance in adults. Recent in vitro studies have suggested that vitamin D may play a role in the regulation of adiponectin, leptin and resistin; since all these adipokines are related to insulin sensitivity modulation, they might represent a link between vitamin D status and insulin resistance.Aim: To identify possible correlations between 25(OH)-vitamin D ser...

Introduction: The prevalence of obesity in children and adolescents has dramatically increased over the last 20–30 years.Childhood overweight is associated with higher risk of obesity into adulthood and a higher incidence of metabolic consequences.Objectives: To identify the prevalence of metabolic complications in obese children and adolescents.Methods: One thirty-two obese children and adolescents (age...