hrp0092p2-228 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Near Adult Height According to Genetic Target and Absence Of Craniofacial Bone Fibrous Dysplasia in a Girl With Mc Cune Albright Syndrome and Growth Hormone Excess: 12.6 Years Follow-up

Fernández Mentaberry Verónica , Riu Carmen , Oneto Adriana , Stivel Mirta

Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic...

hrp0092p1-359 | GH and IGFs (2) | ESPE2019

Insulin-Like Growth Factor 2 in Pediatric Gliomas: Expression, Intracellular Localization and Association with Clinical Outcome

Clément Florencia , Martin Ayelen , Venara Marcela , Fernández María Celia , Lombardi Mercedes García , Bergadá Ignacio , Pennisi Patricia

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

hrp0094p2-402 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Description of a new variant in the MAMLD1 gene in an infant with microphallus and hypospadias

Riera Cristina Aguilar , Tutaya Egusquiza Dellanira Pamela , Canestrino Gennaro , Fernández Paula , Camats Núria , Clemente María , Yeste Diego

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

hrp0092p1-272 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Age at Menarche Over the Last Decades and Inter-Regional Variability in Northern Spain

Rubio Pablo Alonso , González Lucía Fernández , Saracho Cecilia Arbesú , Candás José Ignacio Pérez , Riaño-Galán Isolina

Introduction: Menarche is the time of first menstrual bleed and it occurs, on average, 2 to 2.5 years after the onset of puberty. Globally, the age of menarche had been reduced since the last century.Objective: To examine the evolution of the age of menarche over the last decades and inter-regional variability in an autonomous community located in northern Spain which is divided in eight health areas.<p class="abstex...

hrp0092p2-279 | Thyroid | ESPE2019

Diagnosis of Central Congenital Hypothyroidism and Multiple Pituitary Deficiencies Through a Neonatal Screening Program

Grau Gema , Concepción Fernández María , Artola Elena , Sarasua Ainhoa , Lizarralde Eneritz , Pintos Carla , Vela Amaia , Rodríguez Amaia , Díez Ignacio , Rica Itxaso

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...

hrp0094p2-461 | Thyroid | ESPE2021

Early reassessment in congenital hypothyroidism

Grau Gema , Bertholt María Laura , Chueca María , Artola Elena , Fernández María Concepción , Sarasua Ainhoa , Rodríguez Amaia , Vela Amaia , Berrade Sara , Naranjo Cristina , Puges Laura , Diez Ignacio , Espada Mercedes , Ascunce Nieves , Porras Begoña , Rica Itxaso

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

hrp0094p2-480 | Thyroid | ESPE2021

TBG deficiency and Central Congenital Hypothyroidism (CCH): Our experience in neonatal screening with TSH and T4

Chueca Maria J. , Grau Gema , Bertholt Laura , Artola Elena , Fernández Concepción , Sarasua Ainhoa , Rodriguez Amaia , Vela Amaia , Belza Amaia , Berrade Sara , Dura Teodoro , Alonso Pablo , Puges Laura , Diez Ignacio , Espada Mercedes , Ederra Maria , Ascunce Nieves , Porras Begoña , Rica Itxaso

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...