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...

hrp0089p3-p285 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Panhypopituitarism with Tall Stature Diagnosed in a 20 Years Old Boy

Forrester Andrea , Cecchi Griselda , Perez Guadalupe , Soria Luciana , Masllorens Francisca , Juarez Sofia , Vallone P.M. Constanza , Grassi Magdalena

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...