hrp0095p1-599 | Thyroid | ESPE2022

Twin pregnancy with a hydatiform mole and coexisting liveborn infant, with maternal hyperthyroidism and neonatal hypothyroidism

Cecchi Griselda , Rampi Gabriela , Berger Malena , Forrester Andrea

Background: A twin pregnancy with a coexisting complete hydatiform mole and a healthy fetus is rare, with an incidence of 1 in 22.000-100.000 pregnancies. Associated with this condition are potencially serious maternal and fetal complications.Case Report: A 32 year old pregnant woman presented with clinical features of hyperthyroidism, confirmed by laboratory. An ultrasound scan revealed a complete hydatiform mole (CHM) ...

hrp0097p2-21 | Growth and Syndromes | ESPE2023

Schaaf-Yang syndrome: Report of two cases

Rampi Gabriela , Berger Malena , Cecchi Griselda , Schneider Claudia , Juarez Peñalva Sofia , Forrester Andrea

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

hrp0084p3-1176 | Thyroid | ESPE2015

Graves’ Disease in Childhood and Adolescence: Clinical Manifestations, Adverse Effects, and Predictive Factors for Response to Antithyroid Drugs

Dujovne Noelia Vanesa , Dratler Gustavo , Pitoia Fabian , Felipe Laura , Ayarzabal Victor , Soria Ianina , Berger Malena , Belgorosky Alicia , Herzovich Viviana

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

hrp0095p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analysis of the GHR gene poly¬morphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis.

Celeste Mattone Maria , Perez Garrido Natalia , Costanzo Mariana , Hidalgo Lorena , Berger Malena , Zoff Luciana , Sonia Baquedano Maria , Ramirez Pablo , Berensztein Esperanza , Ciaccio Marta , Marino Roxana , Belgorosky Alicia , Guercio Gabriela

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...