ESPE Abstracts

Introduction: Copeptin is a stable AVP surrogate, secreted in equimolar relationship, who has been proposed for the diagnosis of AVP-related hypo and hypernatremic disorders, i.e. the syndrome of inappropriate ADH secretions (SIADH), the cerebral/renal salt wasting syndrome (C/RSW) and diabetes insipidus (DI). Few data exist about the normal ranges for plasma copeptin levels in the pediatric age, reported between 2.4-8.6 pmol/L. The aim of this study is to rep...

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

Background and Aims: It has been postulated that the first 3 months of life are critical for programming of adult metabolic health. We investigated if Body Mass Index (BMI) and Fat Mass percentage (FM%) in early life tracks to 5 years of age and if feeding mode influences tracking.Methods: In 268 term born, healthy infants from the Sophia Pluto cohort (161 boys ), BMI was determined at 3 and 6 months, 2 and 5 years o...

Background/Aim: Currently, the minimum of the GH peak (pGH) to GH provocative stimuli, including the glucagon stimulation test (GST), has been arbitrary set in children at 7 µg/L, irrespective of gender and age. Several doses (fixed or per bodyweight) and ways of administration (IM or SC) of glucagon are being used in daily practice. This retrospective study explores the influence of gender, age, and adiposity on the pGH after a maximally effective glucag...

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...