ESPE Abstracts

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

Introduction: Vertebral fractures (VFs) are a common and severe finding in secondary and primary osteoporosis. VFs in patients with osteogenesis imperfecta (OI) are an important factor of morbidity and mortality and their presence serves as supportive evidence to initiate bisphosphonate (BP) therapy. In children, VFs have the potential to reshape and regain their original configuration. Vertebral reshaping is regarded a desired effect of BP therapy in children...

Background: Periventricular nodular heterotopia (PNH) is a brain malformation caused by dysregulation of neuronal migration during cerebral development, resulting in nodular neuronal structures in the ventricular surface. Associated ectopy of the posterior pituitary has been reported in literature and is usually associated with deficiencies of the anterior pituitary. The occasion of an isolated central diabetes insipidus due to absence of the posterior pituita...

Introduction: Heritable conditions causing aldosterone deficiency (hypoaldosteronism) or target-organ resistance (pseudohypoaldosteronism, PHA) can lead to life-threatening salt-wasting crises in early life. Prompt evaluation and correct interpretation of aldosterone and renin are crucial to guide differential diagnosis and further testing. Here we report on the similarities and differences of two neonates presenting with salt-wasting: Patient (P1) due to PHA ...

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...

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...