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 ...

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 & 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...

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...