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Kallmann syndrome type 1

 

Kallman Syndrome is an X-linked disease that primarily affects males. It is characterized by anosmia (no sense of smell), small genitalia, and sterile gonads. The impaired sense of smell is caused by the absence of the olfactory bulbs. Kallman Syndrome also affects the hypothalamus. The hypothalamus produces reduced levels of GnRH, the hormone responsible for the secretion of the hormone LH. LH is the hormone that stimulates gonadal and genital development. In some instances of Kallman Syndrome, GnRH is not produced at all. Decreased or absence of GnRH also causes reduced levels of other hormones including estrogen and testosterone. Patients are therefore at a greater risk for osteoporosis and brittle bone disease.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-10 Code E23.6

Test Requisition: Cytogenetics Requisition

Turn-around-time: 10-14 days

Specimen Requirements

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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