Authors: Cristina Micheletto Dallago Denise Dotta Abech Julia Fernanda Semmelmann PereiraLima Caroline Garcia Soares Leães Rafael Loch Batista Ericka Barbosa Trarbach Miriam da Costa Oliveira
Publish Date: 2007/05/26
Volume: 11, Issue: 1, Pages: 109-112
Abstract
Kallmann syndrome KS is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism and anosmia/hyposmia We report an unusual presentation of two females with KS and empty sella These females aged at 20 and 29yearold presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels No other significant clinical signs were observed Empty sella was observed on MRI in both cases Sequencing of FGFR1 gene recently implicated in autosomal form of KS was performed and one splicing mutation IVS14 + 1G A was identified in one patient
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