Puberty refers to the developmental stage when children begin to develop adult physical characteristics and is accompanied by the adolescent growth spurt, as well as psychological and cognitive maturation. It is also the time at which people become capable of reproduction. This development occurs because of hormonal changes within the body, and abnormalities in these hormone levels can result in early, late, or absent puberty, or normal puberty with fertility problems in adulthood. Many of these disorders are hereditary in nature, meaning that they "run in the family" because they are inherited from parent to child through the DNA, or the genetic material from which genes are made. Genes are like the instructions manual for our body and are passed on from parents to children. The purpose of the study is to learn about the hereditary basis of disorders of the reproductive system including early puberty, late puberty, complete absence of puberty, and typical puberty that is accompanied by abnormalities of the reproductive system later in life.

Family members of those participating in this study will also be encouraged to participate. Patients with late pubertal development may also be encouraged to participate in our related study, "The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility," but participation in both is not required.

You may be asked by your physician or by another research scientist to fill out our questionnaire about your general and reproductive health using the username and password provided, so that we may find out if you might be eligible for genetic testing through our study without providing us with any identifiable personal information. In this case, we will not be able to identify who you are or to contact you without your permission, and we refer to this as "deidentified data". If you have been asked to provide us with DEIDENTIFIED DATA (i.e. you have not spoken with our team or signed our consent form, but have been given a username and password to fill out our questionnaire), please click Questionnaires - Deidentified. In this case, none of the additional information about how the study works, visiting the NIH, etc, is relevant to you at this point.

Important Information and Instructions for Patients and Physicians
  • For patients who have an appointment at the NIH:
    • Navigate through all items of the menu on your left to learn more about the investigations, and to find essential instructions for preparing for your NIH visit, including travel information.
    • Once enrolled (after signing the consent form), you can Log In to the application and fill out questionnaires.
  • For physicians who would like to refer a patient to the NIH, please Contact Us.
    • You will be asked to obtain permission from the patient (or their parent/guardian) to send us all relevant medical records from the time of diagnosis, including growth charts and copies of MRIs or other studies.

Please Contact Us if you have any questions or concerns.