ESPE Abstracts

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...

Case Report: Two cases of type 2 diabetes mellitus (among which 1 case of metabolic syndrome) previously taken as type 1 diabetes mellitus in adolescents are presented and the evaluation and management are discussed. There was a family history of Diabetes mellitus in one of the adolescent. Both of them had signs of insulin resistance, they were overweight and obese respectively, poorly controlled on premix insulin. The laboratory test revealed a high HbA1C, dy...

Background: A total of 83,803 patients who received rhGH therapy were enrolled in KIGS (Pfizer International Growth Database) including 748 patients diagnosed with a specified or unspecified skeletal dysplasia. The most prevalent diagnoses were hypochondroplasia (n=238: Female=111, Male=127), achondroplasia (n=113: F=51, M=62) and Leri-Weill dyschondrosteosis, LWD (n=88: F=59, M=29).Objective: To analyse the first year response...

Background: Glucocorticoids (GCs) are widely used for treatment of inflammatory and autoimmune conditions. Prolonged use of GCs, however, has several negative side effects, including bone growth impairment in children. Previous studies have shown that GC-induced apoptosis in growth plate chondrocytes is mediated by inhibition of the PI3K–Akt signaling pathway and activation of the pro-apoptotic protein Bax. Humanin, a small mitochondrial derived peptide, has shown promisi...

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. We developed a suspension of glibenclamide (EMA CHMP Authorization February 2018) fitting recommendations of drug administration to allow a precise dosage. We reported it to be practical, efficient and well tolerated after 3 months of use.Objective: To determine long term efficiency and tolerance of a new suspension of glibenclam...

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...