hrp0092p2-130 | Fat, Metabolism and Obesity | ESPE2019

Severe Obesity – Much More Than an Unhealthy Lifestyle

Matias Joana , Amorim Marta , Limbert Catarina

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

hrp0092p3-239 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Normosmic Hypogonadotropic Hypogonadism: An Intrafamiliar Case

Soares Joana , Briosa Filipa , Valsassina Rita , Amorim Marta , Limbert Catarina

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...