47, Xyykaryotype Associated with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in an Infertile Man Presenting with Obstructive Azoospermia: Spermal Retrieval and In Vitro Fertilization

A 41-year-old man presented with a 5-year history of primary infertility. The patient denied any hypogonadism symptoms. There was no family history of infertility. His 34-year-old wife presented with no infertility factor. Physical examination demonstrated Body Mass Index (BMI) of 24, normal phallus and bilateral descended testes measuring approximately 21cc. No evidence of clinical varicocele. Vas deferens were non palpable. Three semen analysis with hipospermia and Azoospermia were obtained. Total serum testosterone was 910 ng/dL (normal range 220-1000 mg/dl), Follicle Stimulating Hormone (FSH) 6,15mU/mL (normal 1-10 mU/mL), prolactin was 9,1 ng/mL (normal 2-18 ng/mL). Genetic evaluation presented 47,XYY[95]/46,XY[5] karyotype and Phe508del CFTR heterozygous mutation and normal Y-linked microdeletion assay. The partner´s karyotype confirmed 46, XX and no CFTR mutations. Sperm retrieval was possible only through Testicular Sperm Extraction (TESE). In the first IVF cycle performed, two embryos were obtained: one with degraded DNA and other with hatching 44,X-20 after PGD. In the second and third cycles 46, XX embryos were obtained and transferred, but pregnancy wasn´t achieved.