Clinical trial: The Clinical Study of Sex Chromosome Variants (NCT01661010)

Eligibility criteria:
-  INCLUSION CRITERIA:

               1. Patients previously identified through outside research or diagnostic labs as
                  having sex-chromosome variants causing deletion/duplication of sex-linked genes
                  or entire sex chromosomes, male and female.

               2. In the event that a patient with a sex-chromosome variant self-refers to the
                  protocol, medical records will be reviewed by a committee to include Dr. David
                  Page, Dr. Maximilian Muenke, and others to decide whether the patient is
                  appropriate for enrollment in the protocol.

               3. Willing family members of subjects enrolled may be enrolled as control subjects.

        EXCLUSION CRITERIA:

          1. Anyone unwilling to provide informed consent or assent.

          2. We reserve the right to exclude patients with medical conditions that would place a
             potential participant at high risk of complications if managed at the NIH clinical
             center (ex. dialysis dependency, unstable cardiac conditions, unstable severe
             depression/suicidality).

          3. We reserve the right to exclude cases that are clearly not related to Ychromosome
             variants, infertility or our direct research interests (e.g. infertility with clearly
             non-genetic etiology). This almost never happens, and we would attempt to make
             referrals to a more appropriate investigator.

        It is our intention to try to remove as many economic, cultural, geographic, racial, and
        gender barriers as we reasonably can to promote a diverse participation of infertility
        cases for research purposes.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 18 Years old.


Patient description (medical language): A 24-year-old man comes to the office complaining of infertility.  He and his wife have been trying to conceive for the last 18 months.  Medical records of his wife showed no abnormalities.  The patient doesn't smoke and takes no medications.  Height is 185 cm and weight is 77 kg.  Heart and lung sounds are normal.  There is bilateral gynecomastia and bilateral descended firm testes.  The lower extremities appear abnormally long. His karyotype evaluation shows 47, XXY consistent with Klinefelter syndrome.

Patient description (patient's own words): I'm only a 24 year old man but I’m already struggling with infertility. I went to a clinic with my wife the other day because we've been trying to have a baby for at least 18 months. The medical records of my wife are totally normal. For me I don't smoke or take any medication. I'm 185 cm and 77 kg. Everything was normal when the doctor inspected my lungs and my heart. The doctor said that I have enlarged breasts for a man. My testicles seem normal. The doctor noticed that my legs were abnormally long compared to the rest of my body. I also had a karyotype evaluation which led the doctor to diagnose me with Klinefelter syndrome.

Does the patient match the trial criteria? Entailment