Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096fc8.4 | Thyroid 1 | IMPE2023

Custom next generation sequencing panel identifies somatic mutations and gene fusions in pediatric papillary thyroid carcinoma

Ramirez Pablo , Perez Garrido Natalia , Dujovne Noelia , Gazek Natalia , Trobo Sofia , Saraco Nora , Juanes Matias , Garcia Francisco , Aschettino Giovanna , Lopez Marti Jessica , Herzovich Viviana , Belgorosky Alicia , Marino Roxana

Thyroid cancer is rare in childhood accounting for 0–3% of all pediatric malignancies. Children with thyroid cancer demonstrate higher rates of cervical lymph node involvement and pulmonary metastases, the long-term outcome is rather favorable and mortality rate is low compared with adults. An increasing incidence of the disease has been observed in the last years. There is not enough evidence about the molecular mechanisms implicated and the correlation with prognosis a...

impe0096p81 | GH and IGFs | IMPE2023

Functional characterization of a novel intronic IGF1R gene variant.

Perez Garrido Natalia , Ramirez Pablo , Isabel Di Palma Maria , Ludmila Garcia Maria , Plomer Paula , Saraco Nora , Belgorosky Alicia , Guercio Gabriela , Ciaccio Marta , Marino Roxana

Background: IGF-1 receptor (IGF-1R) is widely expressed across many cell types in fetal and postnatal tissues. IGF-1R activation by IGF-1 and IGF-2 generates several responses including proliferation, and the protection of cells from apoptosis. Signaling through IGF-1R is the principal pathway responsible for somatic growth in fetal mammals, whereas in postnatal animals is achieved through synergistic interaction of growth hormone and the IGFs. IGF-1R gene mut...

impe0096p90 | GH and IGFs | IMPE2023

Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)

Plomer Paula , Celeste Mattone María , Perez Garrido Natalia , César Ramirez Pablo , Marino Roxana , Manuel Lazzati Juan , Guercio Gabriela , Ciaccio Marta , Isabel Di Palma María

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

impe0096p138 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Pitfalls in the molecular diagnosis of 46, XY DSD complete gonadal dysgenesis.

Perez Garrido Natalia , Ramirez Pablo , Perez Mercedes , Zelaya Gabriela , Eugenia Foncuberta Maria , Costanzo Mariana , Celeste Mattone Maria , Guercio Gabriela , Marino Roxana

Introduction: The 46, XY complete gonadal dysgenesis (CGD) is characterized by the presence of a female phenotype and completely undeveloped gonads (streak). This entity is considered as high-risk condition for the development of gonadal germ cell cancer.Aim: to characterize the genetic etiology in a patient with 46, XY DSD and CGD.Case report: A 12-year-old girl was admitted by a ...

impe0096p136 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Differences of Sex Development Associated to Asymmetrical Overgrowth in a Patient with Chromosomal Mosaicism.

Quarracino Malena , Terada Claudia , Daroqui Manuel , Baialardo Edgardo , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Miglieta Aldo , Caino Silvia , Moresco Angelica , Gabriela Obregon Maria , Belgorosky Alicia , Alonso Cristina , Berensztein Esperanza , Vaiani Elisa

Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological st...

impe0096p148 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

3B-hydroxysteroid dehydrogenase 2 (3BHSD2) deficiency 6 cases review

Celeste Mattone María , Costanzo Mariana , Victoria Lobo de la Vega María , Evelyn Paulon Yamila , Patricia Rojas Gabriela , Marcela Lescano Eva , Zappa Jorge , Mocarbel Yamile , Sonia Baquedano María , Perez Garrido Natalia , Marino Roxana , Ramirez Pablo , Belgorosky Alicia , Ciaccio Marta , Guercio Gabriela

Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals.Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed ...