Régulation hormonale de la puberté et de la fertilité

Clinical patients with hypogonadotropic hypogonadism (HH)

• INCLUSION CRITERIA:

Since hypogonadotropic hypogonadism is a rare condition, with an incidence of 1/10,000 to 1/86,000 for isolated GnRH deficiency (43, 44), this protocol remains open to enrollment so that we may study all subjects that are both qualified and interested in participating. Males or females who are >= 14 years old with clinical findings of HH as follows will be included (due to substantial variability among patient presentations, this will be based on the clinical judgement of the investigator):

• Failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins; OR
• Normal puberty with subsequent development of low gonadotropin levels.

A patient under the age of 14 years may be considered for baseline evaluation if there is sufficient evidence suggestive of HH, including, but not limited to any two of the following: anosmia, history of cryptorchidism or microphallus. As above, due to substantial variability among patient presentations, this will be based on the clinical judgement of the Investigator.

EXCLUSION CRITERIA:

Because HH represents a spectrum, where associated clinical findings may provide phenotypic clues to the assessment of inheritability and underlying physiology, exclusion criteria are very limited:

• Patients who have additional pituitary deficiencies, effectively ruling out isolated GnRH deficiency, whether these deficiencies are congenital or acquired (e.g. secondary to malignancy, infection, or irradiation).
• Patients who are taking medications known to cause HH, such as corticosteroids or continuous opiate administration.
• Pregnancy or lactation

In some cases, the subjects will be given the option of having the initial evaluation performed at the NIEHS Clinical Research Unit (Durham, NC). The initial evaluation may be completed at one site with completion of the LH pulsatility study and other diagnostic evaluations undertaken at the other site, depending up on logistical considerations for both the patient and the sites.

All subjects will be provided with a copy of the consent to read over. Time will be given to meet with the subject, describe the study, and review the procedures involved with the study. This will be followed by a time where the prospective subject can express any questions or concerns he/she may have regarding the study and have those issues addressed by one of the investigators. The consent will be signed by the subject and by a designated investigator. A copy of the signed consent will be given to the subject prior to the initiation of any study procedures.

INCLUSION OF VULNERABLE PARTICIPANTS:

-Children

For subjects who are children, all provisions regarding obtaining assent from children and consent from their parent/guardian are described in detail in Consent/Assent Procedures, below.

-NIH Staff, and family members of study team members

NIH staff and family members of study team members may be enrolled in this study as this population meets the study entry criteria. Neither participation nor refusal to participate as a subject in the research will have an effect, either beneficial or adverse, on the participant s employment or position at NIH.

Every effort will be made to protect participant information, but such information may be available in medical records and may be available to authorized users outside of the study team in both an identifiable and unidentifiable manner.

The NIH Frequently Asked Questions (FAQs) for Staff Who are Considering Participation in NIH Research will be made available. Please see Consent/Assent Procedures for consent of NIH Staff. NIH employees or staff who participate during work hours will receive a copy of Leave Policy for NIH Employees Participating in NIH Medical Research Studies.