Endocrine Abstracts

Chromosomal translocations or inversions, may cause spermatogenic failure. We present a case of a 35-years-old couple of identical twins: GD and GS. Both had criptorchidism and bilateral varicocele and underwent medical treatment first, and orchipexy and varicocelectomy subsequently at 7 years and 28 years respectively. GD at 31 years had left orchiectomy because of Leydig cell tumor. They were referred to our clinic for azoospermia and fatherhood desire. The patients were a nonsmokers and nonalcoholics, with no history of infections or traumas in the genital area and were taking no regular medication. Physical examination showed only the right testicle in GD and both testicles in GS, all of elastic consistency and a volume of approximately 15 ml; deferent ducts, epididymides and prostate were normal at palpation. A semen analysis after 5 days of sexual abstinence (performed twice within 2 months according to the WHO guidelines), demonstrated azoospermia in both twins with a normal ejaculate volume (around 2.5 ml). Bacterial cultures excluded genital infection with pathologic bacteria. The levels of FSH and LH were elevated, testosterone levels within normal limits. A cytogenetic analysis demonstrated a balanced translocation (karyotype 46, XY – 3p25; 14q22). Both GD and GS underwent multiple testicular biopsies that revealed almost identical alterations, namely ‘seminiferous tubules with slightly diminished diameters, thickened fibrous membranes, and sparse germinative epithelial tissues. Rare spermatogonia and spermatocytes were observed within the tubules, but no spermatids or spermatozoa, with 80–90% tubules with Sertoli cells’.

To our knowledge, this is the first report about a reciprocal translocation in a couple of identical twins with cryptorchidism, varicoceles, Leydig cell tumor and azoospermia.