HUM-MOLGEN DIAGnostics/Clinical Research


Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia)

"We are currently screening for the autosomal genes responsible for familial cases of Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia), isolated GnRH deficiency, isolated gonadotropin deficiency, or idiopathic hypogonadotropic hypogonadism. Previous studies have indicated a defect in the KAL gene at Xp22.3 in the X-linked form of this disease. We currently have 5 families (2 Hasidic, 1 Isreali [Ashkenazi], 1 Muslim, and 1 French Canadian) with apparently autosomal recessive modes of inheritance and are eager to multiplex them with others from around the world. Since two of these families are Hasidic, Ashkenazi Jews from a confined area in Brooklyn, New York, we are particularly interested in whether any familial or sporadic Ashkenazi cases could be made available for study."

We can be reached at: 617 726-3038 fax: 617 726 5357 email:
William F. Crowley, Jr., M.D.
Stephanie Seminara, M.D.