hrp0095p1-195 | Thyroid | ESPE2022

Molecular Characterisation of Patients with Thyroid Dyshormonogenesis and Variants in DUOX2

Baz-Redón Noelia , Camats-Tarruella Núria , Fernández-Cancio Mónica , Antolín María , García-Arumí Elena , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Gonzalez-Llorens Núria , Soler Laura , Clemente María , Yeste Diego

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

hrp0095p1-593 | Thyroid | ESPE2022

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis Associated with Defects in The TSH Receptor (TSHR)

Camats-Tarruella Núria , Baz-Redón Noelia , Fernández-Cancio Mónica , Antolín María , Garcia-Arumí Elena , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Gonzalez-Llorens Núria , Soler Laura , Clemente María , Yeste Diego

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

hrp0084p2-366 | Fat | ESPE2015

Homozygous Mutation in FBN1 Gene In-Patient with Prader–Willi Syndrome: Variant Marfan Syndrome?

van den Boom-Rijk Yvonne , Kempers Marlies , van der Sanden Ria Nijhuis , van Alfen-van der Velden Janielle

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...

hrp0097rfc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Efficacy and security of gonadotropin treatment in adolescents with congenital hypogonadotropic hypogonadism

Sayol-Torres Laura , González Judith , Gonzalez Núria , Campos Ariadna , Mogas Eduard , Yeste Diego , Clemente Maria

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

hrp0095p2-92 | Fat, Metabolism and Obesity | ESPE2022

Different profiles of lipoprotein particles associate various degree of cardiac involvement in adolescents with morbid obesity

Arciniegas Larry , M. Siurana José , Sabate-Rotes Anna , Amigó Núria , Martínez-Micaelo Neus , Riaza Lucia , Mogas Eduard , Rosés-Noguer Ferran , S. Ventura Paula , Yeste Diego

Introduction: Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective of our study is to evaluate the advanced lipoprotein profile (ALP) and its relationship with cardiac changes, metabolic syndrome and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes me...

hrp0095p2-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary Macroadenomas in Childhood and Adolescence. Clinical Analysis of 7 Cases

Aguilar-Riera Cristina , González Núria , Mogas Eduard , Campos Ariadna , Fàbergas Anna , Vázquez Elida , Clemente María , Yeste Diego

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

hrp0092fc6.6 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Craniosynostosis in Inactivating PTH/PTHrP Signaling Disorder 2: A Non-Classical Feature to Consider

Riaño-Galan Isolina , Rothenbuhler Anya , Debza Yahya , Barosi Anna , Mantovani Giovanna , Perez de Nanclares Guiomar , Linglart Agnès

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

hrp0084p1-140 | Turner &amp; Puberty | ESPE2015

Impaired Motor Function in Turner Syndrome: What is the Relationship to Performal Intelligence Scores?

Taskin Betul , Verhaak Chris , Essink Marlou , Kempers Marlies , Vinck Anja , Sanden Ria Nijhuis-van der , Velden Janielle van Alfen-van der

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

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...

hrp0097p1-543 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Phenotype and genotype in patients with growth hormone difenciency and pituitary morfology abnormality

Aguilar-Riera Cristina , González-Llorens Núria , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Fernández Paula , Vázquez Elida , Yeste Diego , Clemente María

Introduction: Congenital hypopituitarism is a heterogeneous disorder with isolated hormone deficiency(IPHD) or combined(CPHD). Main risk factors for CPHD include H-P abnormalities such agenesis corpus callosum(ACC), anterior pituitary hypoplasia(APH), ectopic posterior pituitary(EPP), pituitary stalk interruption(PSI), septo-optic dysplasia(SOD), and holoprosencephaly(HPE).Patients and Methods: Prospective and longitudin...