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Two cases of Kallmann syndrome associated with empty sella. 2008
Cristina Micheletto Dallago, and
Denise Dotta Abech, and
Julia Fernanda Semmelmann Pereira-Lima, and
Caroline Garcia Soares Leães, and
Rafael Loch Batista, and
Ericka Barbosa Trarbach, and
Miriam da Costa Oliveira
Departamento de Endocrinologia, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
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 29-year-old, 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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