hrp0095p1-350 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Phenotypic characteristics of a cohort of patients with Septo-Optic Dysplasia followed in a Tertiary Centre.

Ardila Santos Sandra , Ciaccio Marta , Isabel Di Palma Maria

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

hrp0095p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical description of ten paediatric patients with rapid-onset obesity and clinical signs of ROHHAD-NET Syndrome

Aziz Mariana , Leske Vivian , Caminiti Carolina , Armeno Marisa , Ciaccio Marta , Gil Silvia

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

hrp0082p1-d1-139 | Growth | ESPE2014

Functional Characterization of Three Novel Mutations in the IGF1R Gene

Juanes Matias , Guercio Gabriela , Marino Roxana , Berensztein Esperanza , Ciaccio Marta , Gil Silvia , Rivarola Marco A , Belgorosky Alicia

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

hrp0097p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Primary hyperparathyroidism in a pediatric patient with tuberous sclerosis

Lucia Feller Ana , Mariana Aziz , Victor Ayarzabal , Ciaccio Marta , Gisela Viterbo

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0097p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Lucia Feller Ana , Aziz Mariana , Gil Silvia , Quarracino Malena , Mendoza Lincolns , Paz Marcos , Vaiani Elisa , Ciaccio Marta , Viterbo Gisela

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

hrp0092p1-249 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Use of Desmopressin for Bilateral Inferior Petrosal Sinus Sampling (BIPSS) in Pediatric Patients with Cushing Disease (CD)

Gil Silvia , Di Palma Isabel , Vaiani Elisa , Viterbo Gisela , Requejo Flavio , Ramos Javier Gonzalez , Lazzati Juan Manuel , Lubieniecki Fabiana , Rugilo Carlos , Ciaccio Marta

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...

hrp0084p2-538 | Puberty | ESPE2015

Plasma Humanin Levels During Normal Childhood and Puberty. Study of Possible Correlations with Sex, Age, and Insulin Levels

Dona Valeria De , Ciaccio Marta , Wan Junxiang , Guercio Gabriela , Vaiani Elisa , Krochik Gabriela , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Cohen Pinchas , Belgorosky Alicia

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

hrp0084p3-1117 | Pituitary | ESPE2015

Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland

Marino Roxana , Juanes Matias , Ramirez Pablo , Garrido Natalia Perez , Ciaccio Marta , Palma Isabel Di , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco Aurelio , Belgorosky Alicia

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

hrp0097t5 | Section | ESPE2023

Clinical relevance of findings of the NGS panel for the pediatric patient with papillary thyroid carcinoma

Dujovne Noelia , Gazek Natalia , Vaiani Elisa , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Lopez Marti Jessica , Ayarzabal Victor , Ciaccio Marta , Belgorosky Alicia , Herzovich Viviana

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...