hrp0098p3-14 | Adrenals and HPA Axis | ESPE2024

Combined Therapy with GnRH Analogue, Aromatase Inhibitor, and Growth Hormone on Adult Height in Non-Classical Congenital Adrenal Hyperplasia: A Case Report

Sharifova Mirzayev Sabina , Derya Kardenel Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks...

hrp0094p2-292 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Timing of infancy-childhood growth spurt in healthy Turkish children

Sharifova Sabina , Turan Hande , Tarcin Gurkan , Sharifli Samir , Gur Emel , Ercan Oya ,

Aim: The onset of the infancy-childhood growth spurt (IC spurt) is identical with the onset of the childhood component of the infancy-childhood-puberty growth model. The aim of this study was to determine the timing of IC spurt and to investigate the factors affecting it in healthy children.Materials and Methods: The files of 231 healthy children who were followed up regularly (at 0, 2, 4, 6, 12, 15, 18, 24, 30 and 36 months) at the Ista...

hrp0092p2-295 | Thyroid | ESPE2019

The Incidence of Congenital Hypothyroidism During the Neonatal Screening Program in the Republic of Karakalpakstan, Uzbekistan

Zhiemuratova Gulshad , Sharipova Madina , Rakhimova Gulnara

Background: In the world, the incidence of congenital hypothyroidism varies in wide ranges. In the neonatal screening based on thyroid-stimulating hormone (TSH), the optimal diagnostic level of TSH is essential to ensure that the true cases of congenital hypothyroidism are not missed.The goal was to compare the incidence rate of congenital hypothyroidism during the course of changes in the screening protocol for the periods of 2003-2007 ...

hrp0084p2-480 | Growth | ESPE2015

In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children

Martucci Lucia , Scaglia Paula , Karabatas Liliana , Rey Rodolfo , Domene Horacio , Domene Sabina , Jasper Hector

Background: ALS deficient (ALS-D) patients present severe IGFI and IGFBP3 deficiencies and variable degree of growth retardation. Heterozygous carriers for IGFALS variants, ALS-D relatives or a subset of ISS children, have levels of IGFI, IGFBP3 and ALS intermediate between ALS-D and wildtype (WT) subjects. This supports that IGFALS gene variants may affect ALS synthesis, secretion and/or function and could be responsible for the observed phenotype.<p cla...

hrp0082p2-d1-412 | Growth Hormone | ESPE2014

ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother)

Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Ballerini Maria Gabriela , Domene Sabina , Johanna Acosta , Jasper Hector , Domene Horacio

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

hrp0098p2-288 | Thyroid | ESPE2024

BRAF mutation in a pediatric patient incidentally discovered with papillary thyroid cancer- case report

Cima Luminita-Nicoleta , Dumitrache Sabina , Grosu Iustina , Oprescu Raluca , Zubaci Ana , Iliescu Marina , Puscasu Diana , Gabriela Barbu Carmen , Fica Simona

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

hrp0084p2-463 | Growth | ESPE2015

Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

Scaglia Paula , Sala Andrea , Bergada Ignacio , Braslavsky Debora , Keselman Ana , Espinola-Castro Angela , Domene Sabina , Jasper Hector , Corach Daniel , Domene Horacio

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

hrp0084p1-93 | Growth | ESPE2015

Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations

Scaglia Paula , Keselman Ana , Gutierrez Mariana , Domene Sabina , Blanco Miguel , Sanguinetti Nora , Bezrodnik Liliana , Di Giovanni Daniela , Caldirola Maria Soledad , Martucci Lucia , Karabatas Liliana , Kumar Ashish , Jones Nana-Hawa , Hwa Vivian , Revale Santiago , Vazquez Martin , Jasper Hector , Domene Horacio

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

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...