hrp0084p2-540 | Puberty | ESPE2015

A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

Grandone Anna , Cantelmi Grazia , Marzuillo Pierluigi , Cirillo Grazia , Luongo Caterina , Micillo Flora , Giudice Emanuele Miraglia del , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. Th...

hrp0082p2-d3-495 | Endocrine Oncology | ESPE2014

Early Occurrence of Graves’ Disease After Severe Hypothyroidism in Boy Irradiated for Hodgkin’s Disease

Cantelmi Grazia , Grandone Anna , Luongo Caterina , Affinita Maria Carmela , Micillo Flora , Ficociello Carmine , Indolfi Paolo , Casale Fiorina , Miraglia del Giudice Emanuele , Perrone Laura

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...