ESPE Abstracts

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

Background: Previous research demonstrated that survivors of childhood acute lymphoblastic leukemia (ALL), treated on the Italian Association of Pediatric Hematology and Oncology (AIEOP) protocols without radiotherapy between 1989 and 2000, generally achieve a normal final height with a body mass index (BMI) within the normal range. Nevertheless, their height catch-up growth is not fully restored after chemotherapy and BMI increases during treatment. In female...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...