hrp0086p1-p919 | Thyroid P1 | ESPE2016

Etiology and Severity of Congenital Hypothyroid Children Detected through Neonatal Screening: A Cut-off based Analysis

Vieites Ana , Enacan Rosa , Gotta Gabriela , Junco Marcelo , Ropelato Gabriela , Chiesa Ana

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

hrp0094p2-365 | Pituitary, neuroendocrinology and puberty | ESPE2021

Gonadotropin Flare with Different Depot GnRH Agonists: Comparative Analysis.

Freire Analia , Arcari Andrea , Gabriela Ballerini Maria , Ignacio Bergada , Gabriela Ropelato Maria , Gryngarten Mirta ,

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

hrp0097p1-159 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Long-Term Effect of Gonadotropin-Releasing Hormone Analogue Therapy on Adult Height in Girls with Central Precocious Puberty Diagnosed before 4 Years of Age

Freire Analía , Gryngarten Mirta , Gabriela Ballerini María , Vieites Ana , Gabriela Ropelato María , Arcari Andrea

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

hrp0095p1-214 | Adrenals and HPA Axis | ESPE2022

Development and validation of simultaneous quantification of urinary catecholamines and free metanephrines by UHPLC-MS/MS method

Eugenia Rodriguez Maria , Gabriela Ballerini Maria , Ambao Veronica , Vieites Ana , Sanso Gabriela , Rey Rodolfo , Bergada Ignacio , Gabriela Ropelato Maria

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

hrp0089p1-p147 | GH &amp; IGFs P1 | ESPE2018

Serum IGFBP-2 Concentration in Neonates with Potential Diagnosis of Growth Hormone Deficiency (GHD)

Gabriela Ballerini Maria , Braslavsky Debora , Keselman Ana , Eugenia Rodriguez Maria , Gotta Gabriela , Gabriela Ropelato Maria , Bergada Ignacio

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

hrp0086p2-p774 | Pituitary and Neuroendocrinology P2 | ESPE2016

Insulin Sensitivity in Girls with Central Precocious Puberty at Diagnosis and at 6 Months of GnRH Analogue Treatment

Arcari Andrea , Freire Analia , Escobar Maria Eugenia , Ballerini Maria Gabriela , Ropelato Maria Gabriela , Bergada Ignacio , Gryngarten Mirta

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...

hrp0095p1-147 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Prevalence of Polycystic Ovarian Syndrome (PCOS) In Girls with History of Idiopathic Central Precocious Puberty (ICPP).

Josefina Arcari Andrea , Verónica Freire Analía , Gabriela Ballerini María , María Díaz Marsiglia Yenifer , Bergadá Ignacio , Gabriela Ropelato María , Graciela Gryngarten Mirta

Introduction: The prevalence of PCOS in adolescents and young women was established at 4.3%. Whether women with a history of ICPP are at increased risk for PCOS is still controversial. There is no clear evidence that ICPP girls treated with GnRH analogues (GnRHa) are more likely to develop PCOS than their age-matched peers.Objectives: To assess the prevalence of PCOS in adolescents with a history of ICPP and further comp...

hrp0095p2-163 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: Two Familial Cases with CDKN1C gene variants

Freire Analía , Braslavsky Débora , Scaglia Paula , Esnaola Azcoiti María , Armando Romina , Rothenfusser Anna , Casali Bárbara , Arberas Claudia , Rey Rodolfo , Gabriela Ropelato María , Bergadá Ignacio

Introducción: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder that includes features such as overgrowth, macroglossia, abdominal wall defects, neonatal hyperinsulinism, lateralized overgrowth and predisposition to embryonal tumors during infancy. BWS may be clinically diagnosed by a scoring system and genetic diagnosis is mainly focused to imprinting disorders on the 11p15.5 region. The presence of pathogenic inactivating variants on the mate...

hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

hrp0094p1-108 | Adrenal B | ESPE2021

Circadian rhythm of cortisol in saliva in obese children with clinical signs of hypercortisolism

Gabriela Ballerini Maria , Arcari Andrea Josefina , Brenzoni Luciana , Veronica Freire Analia , Eugenia Rodriguez Maria , Amaro Andrea , Bravlavsky Debora , Maggioni Irina , Keselman Ana , Bergada Ignacio , Gabriela Ropelato Maria ,

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...