title: Two cases of Kallmann syndrome associated with empty sella.
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 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.
authors.affiliation: Departamento de Endocrinologia, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Cristina Micheletto
authors.initials: CM
authors.lastname: Dallago
authors.forename: Denise Dotta
authors.initials: DD
authors.lastname: Abech
authors.forename: Julia Fernanda Semmelmann
authors.initials: JF
authors.lastname: Pereira-Lima
authors.forename: Caroline Garcia Soares
authors.initials: CG
authors.lastname: Leães
authors.forename: Rafael Loch
authors.initials: RL
authors.lastname: Batista
authors.forename: Ericka Barbosa
authors.initials: EB
authors.lastname: Trarbach
authors.forename: Miriam da Costa
authors.initials: Mda C
authors.lastname: Oliveira
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D004252:DNA Mutational Analysis; D004652:Empty Sella Syndrome / Q000150:complications* / Q000473:pathology; D004958:Estradiol / Q000097:blood; D005260:Female; D043373:Follicle Stimulating Hormone, Human / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D017436:Kallmann Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D009154:Mutation; D000857:Olfaction Disorders / Q000209:etiology; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D055815:Young Adult
chemical_list: D043373:Follicle Stimulating Hormone, Human; D004958:Estradiol; D007986:Luteinizing Hormone; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1