ESPE Abstracts

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Background: Gonadotropin-releasing hormone analogs (GnRHa) are the standard treatment of central precocious puberty (CPP). Many studies demonstrate the effects of GnRHa on preserved final adult height. However, data compares the efficacy of different GnRHa on growth outcome and gonadotropin suppression in girl with CPP was limitObjective: Evaluate the effect of 2 different GnRHa on final adult height (FAH) and gonadotropin suppression in girl with CPP</p...

Polycystic ovary syndrome is the most common cause of hirsutism and menstrual irregularity in adolescent girls and young women. It is often accompanied by obesity and insulin resistance and is associated to lifelong co-morbidities, including subfertility, type 2 diabetes, non-alcoholic fatty liver disease, pre-menopausal cancer, depression, low health-related Qol, and pregnancy and offspring complications. PCOS in adolescent girls is commonly driven by fat excess in subcutaneo...

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

Introduction: Hypoglycemia is a significant cause of morbidity in children, yet is challenging to diagnose and treat due to its heterogeneity.Aim: To describe the diagnoses and clinical characteristics of children with hypoglycemia referred to a tertiary pediatric center.Methods: This retrospective study included 155 children (86 males, aged 0-18 years) diagnosed with hypoglycemia ...