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