hrp0084p3-927 | GH & IGF | ESPE2015

Comparison of Two IGF1 Assays in Patients Treated with GH

Martinez Maria , Murillo Marta , Granada M Luisa , Aldea Marta , Guerrini Estefania , Bel Joan

Background: IGF1 measurements are used to diagnose and monitoring GH related disorders. GH dose is titrated against IGF1 concentrations which should be kept within the age-and sex-related normal range. However, IGF1 results vary widely depending on the immunoassay used. International guidelines advise to report IGF1 results as S.D. scores from an assay-specific age-related reference population.Objective and hypotheses: Our objective was to...

hrp0097p2-215 | Adrenals and HPA Axis | ESPE2023

Pseudocushing. an exceptional patology in pediatrics

Vela Amaya , Grau Gema , Bermejo Marta , Miguel Vazquez , Garrido Marta , Rica Itxaso

Introduction: PseudoCushing is an unusual pathology. Among adults several cases have been published, however, in paediatrics it is unusual.Objective: Description of a PseudoCushing case from a patient admitted in a hospital and results from a study to discard secondary hypercortisolism due to stress.Patients and methods: 13 years old patient that it is admitted in hospital due to v...

hrp0095p1-308 | Growth and Syndromes | ESPE2022

Postnatal growth failure of aggrecan deficient mice is due to impaired growth plate chondrogenesis

Bendre Ameya , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

hrp0095p1-342 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Redefinition of LH Cut-Off to Earlier Diagnose Evolutive Precocious Puberty After Triptorelin Stimulation Test

Cavarzere Paolo , Arrigoni Marta , Guardo Chiara , Gaudino Rossella , Antoniazzi Franco

Introduction: Precocious puberty (PP) is defined as the appearance of thelarche before the age of 8 years, in girls. The gold standard for the diagnosis is represented by the increase of LH level after stimulation with native GnRH, but a feasible alternative involves the administration of GnRH analogues. This test is poorly standardised and currently literature lacks of defined values to confirm the activation of the hypothalamic-gonadal axis, since they depen...

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...

hrp0095p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Endocrine care for gender incongruent children and adolescents in The Czech Republic between 2011-2020

Neumann David , Snajderova Marta , Fifkova Hana , Weiss Petr , Zapletalova Jirina

Background: Gender incongruence (GI) is a topic of interest with major impacts on both the individual and society. In recent years, the small group of gender non-conforming children with an early GI history that persists through adolescence has been accompanied by a substantial rise in the proportion of adolescents reporting their gender doubts. The onset of gender dysphoria in this group is rapid. In the Czech Republic, multidisciplinary teams strive for high...

hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

hrp0092p3-239 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Normosmic Hypogonadotropic Hypogonadism: An Intrafamiliar Case

Soares Joana , Briosa Filipa , Valsassina Rita , Amorim Marta , Limbert Catarina

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...

hrp0089fc11.1 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

Successful Immune Tolerance Induction in the First Case of Neutralizing Antibody Mediated Loss of Efficacy of Asfotase Alfa Treatment in Hypophosphatasia

Martos-Moreno Gabriel A , Gonzalez-Vicent Marta , Sebastian Elena , Argente Jesus

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

hrp0089p1-p263 | Thyroid P1 | ESPE2018

Expression of ZnT8 Transporter in Thyroid Tissues from Patients with Immune and Non-Immune Thyroid Diseases

Bossowski Artur , Reszec Joanna , Polnik Dariusz , Gasowska Marta , Niklinska Wieslawa

Introduction: Zinc homeostasis is regulated by ZnT and Zip zinc transporters. Zinc transporter 8 (ZnT8) is localized in insulin containing secretory granule membrane and transports zinc from the cytosol into the vesicles. ZnT8 was identified on peripheral lymphocytes, in subcutaneous adipose tissue, in a pancreatic β-cells and extra-pancreatic endocrine glands including pituitary, adrenal and thyroid. Autoantibodies to the ZnT8 are detected in the majority of type 1 diabe...