• Genetic Basis of Inherited Reproductive Disorders
The purpose of this research study is to learn about the hereditary basis of disorders of the reproductive system including early puberty, late puberty, complete absence of puberty, and normal puberty that is accompanied by abnormalities of the reproductive system later in life. Our work involves the discovery of new genes and the detailed examination of the genes already implicated in causing these conditions. Individuals participating in this study will be asked to give about 3-5 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.

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).

Please contact us by email (ReproEndoGenetics@partners.org) or phone (617-724-2704 or 617-726-5526) and one of our Genetic Counselors will get back to you.

Note: 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.
Institution  –  MGH - Massachusetts General Hospital, Boston, MA
Principal Investigator  – William F Crowley, Jr., MD
Enrollment Information
For further information about enrolling a patient in this trial, contact the person below.
Name  – Kayla Sheets
Phone  – 617-724-2704