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hypogonadism with anosmia

 

Definition: failure of sexual development secondary to inadequate secretion of pituitary gonadotrophins, associated with anosmia due to agenesis of the olfactory lobes of the brain. Autosomal dominant [MIM*147950], autosomal recessive [MIM*244200], and X-linked recessive [MIM*308700] forms exist; the X-linked form is caused by mutation in the Kallmann gene (KAL1) on Xp.

Synonym(s): Kallmann syndrome

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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