Two cases of Kallmann syndrome associated with empty sella.
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.
Dallago
Cristina Micheletto
CM
Departamento de Endocrinologia, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
Abech
Denise Dotta
DD
Pereira-Lima
Julia Fernanda Semmelmann
JF
Leães
Caroline Garcia Soares
CG
Batista
Rafael Loch
RL
Trarbach
Ericka Barbosa
EB
Oliveira
Miriam da Costa
Mda C
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
D043373:Follicle Stimulating Hormone, Human; D004958:Estradiol; D007986:Luteinizing Hormone; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1