IMPE Abstracts

Introduction: Nephrogenic syndrome of inappropriate diuresis (NSIAD) is a rare X-linked genetic disease characterized by a gain-of-function mutation of the V2 receptor. Clinical presentation is similar to inappropriate secretion of ADH (SIADH) including euvolemic hyponatremia, decreased plasma osmolarity, and increased urinary osmolarity, but low or undetectable levels of antidiuretic hormone.Objective: To report a case ...

Introduction: Several studies suggested that there was an increased incidence of precocious puberty in girls during the lockdown for COVID-19 pandemic.Objective: To compare clinical and biochemical parameters in ICPP girls treated before and after lockdown.Patients and methods: Electronic registry data from girls treated with GnRH analogue (GnRHa) attending at a single Hospital, be...

The reported incidence of extragonadal germ cell tumors (eGCT) in Klinefelter Syndrome (KS) patients is 1.5/1.000, a fifty-fold increase over the general population. A recent literature review describes fewer than 150 reported cases (Bonuvrie K et al, Int J Pediatr Endocrinol 2020). Mediastinum is the most prevalent localization of eGCT in pediatric patients with KS. Hormonal profile of these patients was not described in these series.Ca...

Introduction: Primary hyperparathyroidism (PHPT 1) is a rare entity in childhood and adolescence, most cases are diagnosed in patients over 45 years of age, frequently in females, in the pediatric age, mainly affects males, with the exception of neonates in whom there are no differences between the sexes. Most cases occur in children older than 10 years, especially in peripubertal age, and only 5% of all hyperparathyroidism in childhood are diagnosed between 3...

Natural history of Prader-Willi syndrome (PWS) is greatly improved when recombinant growth hormone (rGH) treatment is started early in life, turning out to be effective and safe. However, safety alerts persists in relation to possible ventilatory effects of rGH treatment in the first months. For this reason clinical guidelines recommend close monitoring by specialists in sleep-related disordered breathing and otorhinolaryngologists.Objective:</st...

Genetic forms of central diabetes insipidus have been described in patients with mutations in the AVP gene (autosomal dominant or recessive) and in the WFS1 gene (Wolfram Syndrome, autosomal recessive). Autosomal dominant forms are the result of mutations in the portion of the AVP gene that codes for the peptide Neurophysin II (NPII). Pathogenesis is related to the toxic cellular effect of the mutated protein. Although clinical presentation is usually in the pediatric age, var...

Introduction: Children and adolescents with gender dysphoria are presenting for medical attention at increasing rates. It is important that clinicians understand the specific medical issues that are relevant to this population such as mental health support and hormonal interventions for transgender youth, to ensure optimal outcomes.Objective: To carry out a retrospective observational description analysis of transgender ...

Introduction: The prenatal diagnosis of fetal goiter is made by ultrasonography (US). Occasionally, clinical history and US findings may lead to the presumptive diagnosis of fetal hyper or hypothyroidism. Although, the dosage of thyroid hormones in fetal blood may exceptionally be necessary.Objective: To report the prenatal treatment and postnatal evolution of a child with fetal goiter.Pren...