No abstract

Idiopathic non-obstructive azoospermia or severe oligozoospermia (INOA) consists a special group of men characterized by eugonadism, primary infertility, low testicular volume, azoospermia or severe oligozoospermia and high follicle stimulating hormone values. Aims of this study were to describe the clinical, hormonal, sperm and histological characteristics of men with INOA and to define if and to what extend men with the INOA phenotype carry Y chromosome long arm (Yq) microdeletions. Sixty-three men with INOA were studied through clinical examination, spermiograms, hormonal profile, polymerase chain reaction for Yq microdeletions, karyotype and testicular fine-needle aspiration biopsy. Sixty-seven men with infertility of known causes and sixty fertile men served as controls. Men with INOA had significantly lower total testosterone levels than fertile men as well as higher prevalence of loss of libido, higher luteinizing hormone levels and lower sperm volume whereas men with infertility of known causes had intermediate values. The prevalence of Yq microdeletions was 3% in men with INOA, 3% in men with infertility of known causes (all of them with abnormal karyotype) and 0% in fertile men. In conclusion, men with INOA have more severe testiculopathy than these with infertility of known causes. These men may be at increased risk of developing partial androgen deficiency of the aging male.

We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.