ESPE Abstracts

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

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: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.M...

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

Obesity—defined as excess fat mass which impacts on physical health—is a complex and multifactorial disease where numerous environmental factors (overeating and/or reduced physical activity) act in concert with genetic factors. Understanding molecular mechanisms of obesity has rapidly improved in recent years due to the development of faster, more specific genetic screening tools (1). Rare genetic obesities are distinguished from more-common polygenic obesities where...

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...