What is the pathogenesis of Kallmann syndrome?

Updated: Oct 14, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Idiopathic hypogonadotropic hypogonadism leads to low gonadotropin (FSH/LH) levels. When this occurs with anosmia, it is diagnosed as Kallmann syndrome, the signs of which include midline facial defects, renal agenesis, and neurologic deficiencies. Kallmann syndrome results from a failure of GnRH cells to migrate to the forebrain, a phenomenon associated with mutations in the genes KAL1, FGFR1, FGF8, PROKR2, and PROK2. Kallmann syndrome most commonly occurs as an X-linked recessive disorder caused by a KAL1 defect. Autosomal dominant and autosomal recessive inheritances are less common. [6, 7] For detailed information, see Gonadotropin-Releasing Hormone Deficiency in Adults.

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