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) ...

hrp0097p2-99 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Three cases of Leydig cell tumor with different clinical presentation

Hidalgo Coronado Lorena , Rampi Gabriela , Brunetto Oscar , Hernandez Claudia

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

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...