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...

hrp0097p2-90 | Multisystem Endocrine Disorders | ESPE2023

Autosomal dominant hypocalcemia: A diagnostic and therapeutic challenge

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Azpilicueta Idarreta Maria , de la Camara Moraño Carmen

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

hrp0098p3-86 | Fat, Metabolism and Obesity | ESPE2024

Setmelanotide as treatment for obesity due to leptin receptor (LEPR) deficiency in a child under 6 years of age

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Alarcon Roldan Maria-Angeles , de la Camara Moraño Carmen

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...