IMPE Abstracts

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...

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...