Trial Information

Summary: Genetic Basis of Inherited Reproductive disorders

The purpose of this research study is to generate information about the genetic basis of disorders of the reproductive system. Our work involves the discovery of new genes and detailed examination of the genes already known to cause these conditions. Individuals participating in this study will be asked to give about 3 tablespoons of blood, to review their family history, complete a detailed medical questionnaire and perform a scratch & sniff test to examine their sense of smell. Study participation does not require a visit to Massachusetts General Hospital and a study package can be mailed to eligible participants.

When contacting us, please include in your message a description of your diagnosis, your pubertal history (age when you hit pubertal hallmarks, e.g., growth spurt; body hair; voice deepening and genital growth for men; menstruation and breast development for women) and your reproductive history.

Eligibility Criteria:
Individuals with early (precocious) puberty, delayed puberty, or absent puberty (Kallmann syndrome, hypogonadotropic hypogonadism) and individuals with normal pubertal development who experience a change in their reproductive function later in life (i.e. hypothalamic amenorrhea in women or very low testosterone levels in men)

If you would like to learn more about participating in this study, please send an e-mail message using the form below.