ESPE Abstracts

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...

Background: The excessive consumption of sucrose, primarily used in sweetened beverages, has been considered an important inducer of cardiometabolic diseases. Besides the association between metabolic syndrome and fructose found in animal models, literature is lacking prospective studies in humans, especially in paediatric ages.Objective and hypotheses: We assessed the effect of sugar-sweetened beverages reduction on markers of metabolic syndrome in obes...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...