ESPE Abstracts

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

Endocrine disorders are the most common causes of secondary hypertension. Early diagnosis and treatment is crucial for prevention of cardiovascular complications. Several rare but important entities like Cushing’s syndrome and pheochromocytoma/paraganglioma can cause endocrine hypertension, in contrast to primary aldosteronism, which is quite frequent. Definition, classification and prevalence: With a prevalence of 6% in unselected patients with hypertension, 5 to...

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant le...

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...

Introduction: The diagnosis of a disorder/difference of sexual development (dsd) is an exceptional psychosocial situation. As the diagnosis is often made in childhood, the parents are the primary communication partners. In some cases, the impossibility of immediate sex determination of the child can be a traumatic experience with a negative impact on the relationship between the parents and the child, the couple and members of the entire family. It has been recommended by the ...