ESPE Abstracts

Background: Oxidative stress has been implicated in the development and progression of complications in type 1 diabetes (T1DM). Vitamin E (α-tocopherol) undergoes β-oxidation of its chomanol ring and the resulting metabolite α-TLHQ has been proposed as a potential biomarker of oxidative stress. HbA1c relates in T1DM to microvascular complications predominantly although the end-points are late in disease development. The oxidative stress process may act independe...

Background and Methods: PCOS is common and associated with significant comorbidity. However, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine, aiming to identify disease mechanisms, drug targets and novel non-invasive biomarkers for PCOS in adolescents. Here, we present the baseline proteomic data from our prospective, longitudinal study (n=40). We undertook proteomic analysis ...

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over many years. Connected digital health devices can facilitate GH treatment by automating the injection process, which reduces anxiety, and collecting injection data in real-time so that accurate adherence information is available to healthcare professionals (HCPs). In developing new digital health solutions, HCP perspectives should be considered.<strong...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

We report a term male with diazoxide-unresponsive congenital hyperinsulinism (CHI) (spontaneous conception, non-consanguineous, no family history). The patient did not have macroglossia, exomphalos or lateralised overgrowth (cardinal Beckwith-Wiedemann spectrum (BWSp) features) (1). There was no polyhydramnios, macrosomia, facial naevus simplex, ear creases/pits, diastasis recti or nephromegaly/hepatomegaly (suggestive BWSp features) (1).A targeted massi...

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...