Patient case (clinical description): A 30-year-old man who is a computer scientist came to the clinic with the lab result stating azoospermia.  The patient is sexually active with his wife and does not use any contraception methods.  They have been trying to conceive for the past year with no success.  The patient has a past medical history of recurrent pneumonia, shortness of breath, and  persistent cough that produces large amounts of thick sputum. The patient had multiple lung infections during childhood. He does not smoke, use illicit drugs or alcohol.  The patient has no history of other medical conditions including allergies or any kind of surgery.  On physical examination, the digits show clubbing.  An ultrasound shows bilateral absence of the vas deferens, and FEV1 was 75% on the respiratory function test.

Patient's own account: I'm a 30-year-old computer scientist. I did some lab tests that came back quite alarming, stating that I have azoospermia?! I'm sexually active with my wife and we don't use contraception. We've been trying to have a child for the past year. I have a medical history of pneumonia and shortness of breath and regular wet cough. I had several lung infections when I was a kid. That's why I'm very careful and don't smoke, do drugs, or drink. I don't have other medical conditions including allergies or any kind of surgery. The doctor did the clubbing test on my fingers, which was positive. I also did an ultrasound and it showed that I'm missing the tubes that carry sperm around. I also had a 75% for my respiratory function test.

Clinical trial: FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy

Eligibility criteria:
Inclusion Criteria:

          -  age 20-50 years

          -  idiopathic male factor infertility for at least one year;

          -  homozygous FSHR allele at codon 680 (wild type: Asn/Asn or Ser/Ser);

          -  sperm DFI > 15%;

          -  normal serum FSH levels (< 8 IU/L)

          -  normal serum LH, testosterone, prolactin and estradiol levels

          -  normal ovulatory female partner These men might have impaired ejaculate parameters
             (decreased sperm count and/or decreased proportion of sperm with progressive motility
             and/or decreased proportion of sperm with normal morphology) of unknown aetiology.

        Exclusion Criteria:

          -  azoospermia

          -  all known aetiologies of male infertility (endocrine disorders, genetic disorders,
             chromosome abnormalities, congenital bilateral absence of the vas deferens,
             microdeletions within the AZF regions of the Y chromosome, varicocele, cryptorchidism,
             infections, immunological infertility, and obstructive infertility)

          -  all known aetiologies of female infertility in the partner (tubal blockage, endocrine
             abnormalities including anovulation and PCO, anatomical abnormalities, infections)

          -  heterozygous FSHR allele at codon 680

          -  drug abuse and major systemic diseases

          -  testicular insufficiency
Male
No healthy subjects accepted to join the trial.
Subject must be at least 20 Years old.
Subject must be at most 50 Years

Eligibility (NLI label): Contradiction