hrp0092p3-278 | Late Breaking Abstracts | ESPE2019

New Mutation of Gnas in a 2 Year Old Oncological Patient

Ariza Jimenez Ana Belen

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

hrp0094p2-489 | Thyroid | ESPE2021

Thyrotropic cell hyperplasia secondary to prolonged uncontrolled primary hypothyroidism

Ariza Jimenez Ana Belen , Ariza Jimenez Jose Antonio , Vargas Elena Lopez

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...