U.S. flag

An official website of the United States government

GTR Home > Tests > Kallmann Syndrome

Overview

Test name

Help

Kallmann Syndrome (KS)

Purpose of the test

Help

Contribute to generalizable knowledge

Condition

Help

Loading data ......

Click Condition tab for more information.

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Description of study

Help

The purpose of this research study is to generate information about the hereditary basis of disorders of the reproductive system including early puberty, late puberty, complete absence of puberty (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism), as well as normal puberty that is accompanied by abnormalities of the reproductive system later in life. This work involves a search for new genes and a detailed examination of the genes already known to cause these conditions. Individuals with early, delayed or absent pubertal development qualify for participation in this study. Also included are individuals that experience a complete loss of their reproductive system later in life. Participation of family members is strongly encouraged. Individuals participating in this study will be asked to provide about 3 tablespoons of blood, to review their family history, fill out a questionnaire and perform a simple test to examine their sense of smell. Information gathered from this study will help to further the understanding of reproductive disorders and the genetic triggers of pubertal development.

Researchers

Person responsible for the studyHelpStephanie Seminara, MD, Scientific Director
Study contactHelpResearch Coordinator, Staff, reproendogenetics@mgh.harvard.edu, 617-726-1309 (phone), 617-726-5357 (fax)
Co-investigatorHelpMargaret Lippincott, MD, Lab Associate Director
Ravikumar Balasubramanian, PhD, MD, Lab Associate Director

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.