hrp0082p3-d2-850 | Growth (3) | ESPE2014

A Follow-up Study up to Adult Height of the Patients Included in the Phase iii Clinical Trial with the Biosimilar Human Recombinant GH (omnitrope®) on the Treatment of Spanish Children with GH Deficit

Borras Victoria , Siguero Juan Pedro Lopez , Martinez Gabriela , Corripio Raquel , Fernanadez Juan , Labarta Jose , Ferrer Marta , Cabrinety Nuria , Prieto Pablo , Ramon Marta , Bosch Jordi , Espino Rafael , Garcia Margarida Palla

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

hrp0084p2-459 | Growth | ESPE2015

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva Alfonso , Garre-Vazquez Ana Isabel , Santaolalla-Caballero Fabiola , Belinchon Alberta , Barreda-Bonis Ana Coral , Vasques Gabriela A , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Benito-Sanz Sara , Jorge Alexander A , Campos-Barros Angel , Heath Karen E

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

hrp0097p1-585 | Thyroid | ESPE2023

Papillary thyroid carcinoma incidentally discovered in young patients - a case series

Grosu Iustina , Dumitrache Sabina-Maria , Zubaci Ana , Stan Raluca , Cima Luminita-Nicoleta , Vasilache Simona , Martin Sorina-Carmen , Sirbu Anca-Elena , Soare Iulia , Barbu Carmen-Gabriela , Miron Adrian , Terzea Dana , Fica Simona

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

hrp0098p1-61 | Growth and Syndromes 1 | ESPE2024

Comparison of the diagnostic yield of whole exome sequencing (WES) and targeted panel sequencing for children with idiopathic short stature (ISS)

Cellin Laurana , Andrade Nathalia , Malaquias Alexsandra , Rezende Raissa , Atique Patricia , Luz Camila , Vasques Gabriela , Souza Vinicius , Quedas Elisangela , Antonini Sonir , Collet-Solberg Paulo , Scalco Renata , Longui Carlos , Jorge Alexander

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

hrp0098p1-92 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypic spectrum of WT1 gene variants in DSD

Celeste Mattone María , Turizo Carmen , Pérez Garrido Natalia , Gil Silvia , Cesar Ramírez Pablo , Roxana Marino , Laura Galluzzo Mutti María , Belgorosky Alicia , Ciaccio Marta , Berensztein Esperanza , Guercio Gabriela , Costanzo Mariana

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...

hrp0098p1-216 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Characterization of a large cohort of 99 argentinian patients with hereditary hypophosphatemic rickets (HHR) followed in a single pediatric tertiary center

Viterbo Gisela , Del Pino Mariana , Aziz Mariana , Abbate Silvina , Perez Garrido Natalia , Ramirez Pablo , Saraco Nora , Tesan Fiorella , Ciaccio Marta , Gabriela Obregón María , Fano Virginia , Belgorosky Alicia , Marino Roxana

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

hrp0098p2-192 | Growth and Syndromes | ESPE2024

Assessment of the rhGH treatment compliance in children based on data from centres in Poland and Italy.

Scheuring Dorian , Corica Domenico , Dragan Wojciech , Pepe Giorgia , Walczak Mieczysław , Lugarà Cecilia , Nowak Katarzyna , Aversa Tommaso , Gabriela Wasniewska Malgorzata , Kołtowska-Häggström Maria , Petriczko Elżbieta

Objective: To identify factors influencing compliance with daily recombinant growth hormone (rhGH) therapy in children and adolescents with growth hormone deficiency (GHD) and born as small for gestational age (SGA) based on data from two European paediatric endocrinology centres.Study population and methods: The study population included 130 patients with GHD or SGA from Szczecin (Poland) and Messina (Italy); 53% of pat...