ESPE Abstracts

Aim: To assess the incidence and mode of presentation of type 1 diabetes mellitus (T1DM) in children and adolescents younger than 16 years of age between January 2012 and December 2023 in Malta. This was done as a follow up study to a previously published paper describing the incidence of T1DM in Malta between 2006-2010.Methods: A nationwide retrospective study which collected data from newly diagnosed T1DM children who ...

Background: Hypoglycemia in the neonate occurs in approximately one to five per 1000 live births. Common causes may be due to sepsis, IUGR or LGA. Rarer causes are congenital hyperinsulinism, panhypopituitarism, GHD, cortisol deficiency, insulinoma, insulin-receptor stimulating antibodies, BWS, and congenital disorders of glycosylation. We present a case of hypoglycemia in a neonate secondary to intraductal papillary mucinous neoplasm of the pancreas (IPMN). IPMN was first rep...

Introduction: Recent publications report an earlier age of onset of pubertal changes in the US and Europe. Referrals to pediatric-endocrinologist for early puberty are increasing. Precocious puberty diagnosis is often delayed, especially in boys. Improvement in pubertal assessment (age at onset of puberty) by pediatricians and general practitioners is needed to participate in the PROSPEL study and to improve management of pubertal abnormalities.<p class="a...

Aims: Recently, our team introduced the concept of post-hypoglycemic hyperglycemia (PHH) in the context that recovery of hypoglycemia impacts cardiovascular risk. GLUREDIA study aimed to evaluate whether PHH parameters correlated with glycemic homeostasis during the first year after type 1 diabetes onset and helped to distinguish pediatric patients undergoing partial remission or not.Methods: In the GLUREDIA study, longi...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

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 (...

Aim: The aim of the study was to predict the risk of tumor recurrence in OBTMaterial and Methods: We conducted a retrospective, observational study (2001-2018) on the management of OBT in girls aged 0 to 18 at Toulouse University Hospital, France.Results: 68 patients were included. 16% were prepubertal. Mean age was 11.35 ± 3.08 years. Pain was the main symptom in 49% ...

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...