Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

ABSTRACT:

Context

The olfactory phenotype in patients with idiopathic hypogonadotropic hypogonadism (IHH) ranges from complete anosmia (Kallmann syndrome) to normosmia (normosmic IHH). However, the true prevalence of intermediary olfactory phenotypes (hyposmia) in IHH patients has not yet been assessed, and systematic correlations with anatomical and genetic abnormalities have not been reported.

Objective

The objective of this study was to evaluate olfactory function in a large IHH cohort and correlate these findings with olfactory magnetic resonance imaging (MRI) and underlying genetic etiology.

Design and setting

We conducted a cross-sectional case-control study at an academic referral center.

Patients

A total of 286 IHH patients (201 males and 85 females) and 2183 hea

SUBMITTER: Lewkowitz-Shpuntoff HM 

PROVIDER: S-EPMC3251934 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature