ESPE Abstracts

Introduction: Thyroid ophthalmopathy, also known as Graves ophthalmopathy, is an autoimmune condition that can affect the orbital and periorbital tissue. Antibodies stimulating the TSH receptor (TRAb) are thought to be involved in the pathogenesis of this disease. Our report describes a case of Graves’ ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody.<p ...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by excessive and inadequate insulin secretion from the pancreatic beta cells. Age at first symptoms and severity are usually correlated with the molecular mechanism, late diagnosis or even misdiagnosis are frequently seen. A genetic cause can be identified in only 50% of cases, potassium channel mutations are the most common mutations causing severe forms. Glucokinase mutation (GCK)...

Introduction: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by an inherited defect in cortisol biosynthesis, 90-99% of CAH cases occur due to 21-hydroxylase deficiency, while 11β-hydroxylase deficiency (11βOHD) accounts for only 0.2-8% of cases. In this study, we report a case of congenital adrenal hyperplasia due to 11βOHD in a two-year-old boy who presented with pseudo precocious puberty and tall stat...

Introduction: The glycated hemoglobin (HbA1c) corresponds to the fraction of Hb exposed to non-enzymatic glycation of the N-terminal part of the beta chain of Hb A, in case of elevation of blood sugar. Any change in erythropoiesis and/or lifetime of red blood cells will affect the reliability of HbA1c levels.Case presentation: 12-year-old girl followed for growth homone deficiency, under growth hormone, in whom the annua...

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live birthsObjective: The aimof this study was to identify clinical features and endocrine...

Introduction: Several predictive factors of response to rGH have already been described in the literature such as age and height at the beginning of treatment, rGH dose and parental height status. However, few data exist on the predictive value of pre-therapeutic data on the response to rGH.The main objective of the study: is to identify predictive factors of the rGH response in children with GHD, with a particular inter...

Introduction: Serum levels of insulin growth factor (IGF1) could be a good indicator of growth hormone (GH) sensitivity and potentially GH therapy responsiveness. Few studies analyzed IGF1 generation test as predictor factor of the growth response to GH treatment in children with growth hormone deficiency (GHD) but results were controversial.Objective: The aimof the study was to evaluate the IGF-I generation test (IGF-I ...