We have developed a rapid screening protocol for deletion analysis of the complete AZFa sequence (i.e. 792 kb) on the Y chromosome of patients with idiopathic Sertoli-cell-only (SCO) syndrome. This Y deletion was mapped earlier in proximal Yq11 and first found in the Y chromosome of the SCO patient JOLAR, now designated as the AZFa reference patient. We now show that similar AZFa deletions occur with a frequency of 9% in the SCO patient group. In two multiplex polymerase chain reaction experiments, deletions of the complete AZFa sequence were identified by a typical deletion pattern of four new sequence-tagged sites (STS): AZFa-prox1, positive; AZFa-prox2, negative; AZFa-dist1, negative; AZFa-dist2, positive. The STS were established in the proximal and distal neighbourhoods of the two retroviral sequence blocks (HERV15yq1 and HERV15yq2) which encompass the break-point sites for AZFa deletions of the human Y chromosome. We have found deletions of the complete AZFa sequence always associated with a uniform SCO pattern on testicular biopsies. Patients with other testicular histologies as described in the literature and in this paper have only partial AZFa deletions. The current AZFa screening protocols can therefore be improved by analysing the extension of AZFa deletions. This may provide a valuable prognostic tool for infertility clinics performing testicular sperm extraction, as it would enable the exclusion of AZFa patients with a complete SCO syndrome.

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Semen samples from 34 men visiting the Lübeck infertility clinic were investigated using a two-color FISH method to determine the ratio of X- and Y-bearing sperm. The overall ratio was significantly shifted to a preponderance of X-containing sperm. A statistical comparison with seven reports from the literature which included 53 normal probands demonstrated in our patients a significant tendency of a preponderance of X-bearing sperm and significantly less Y-bearing sperm. Furthermore, the Lübeck sperm samples are remarkably more heterogeneous in respect to their variability of X- and Y-bearing spermatozoa than in the other mentioned studies with normal probands. These phenomena have to be evaluated in further studies on groups of infertile males showing similar infertility histories.

Testis biopsies of three infertile patients were identified, which showed a predomination of megalospermatocytes in the seminiferous tubules. Megalospermatocytes are very large primary spermatocytes indicating a spermatogenic arrest. Because of the high percentage of these germ cells it was possible to apply a whole-mount spreading technique to investigate the chromosomal pairing behaviour in prophase I of meiosis. It could be shown that most of the megalospermatocytes exhibited extensive chromosomal asynapsis, suggesting that a characteristic meiotic disorder may give rise to reduced fertility, or even infertility.

Treatment of severe male subfertility has become available since the intracytoplasmic injection of a single sperm into an oocyte was successfully applied for the first time in 1992. Moreover, with the use of fresh and cryopreserved epididymal and testicular spermatozoa for this procedure, fertilization and pregnancies could be accomplished. This review addresses the development and performance of these techniques and discusses achievements and problems as well as future aspects of the feasibility of early spermatid injection. Furthermore, limitations of these procedures and concerns with regard to genetic and epigenetic risks of using immature gametes are stressed.

We report on a 62-year-old female patient with melena in which polypoid lesions of the cecum were discovered endoscopically. Histological examination of mucosal biopsies revealed an inflammatory process with lots of histiocytes and so-called Michaelis-Gutmann bodies, leading to the diagnosis of a malakoplakia of the colon. No other organs were found affected. In the course of an antibiotic therapy, there was no melena detectable over a period of six months. Malakoplakia, an inflammation usually affecting the urogenital tract, is rarely found in the colon, with only 35 cases published until now. It is frequently associated with other diseases like neoplastic or inflammatory disorders, immune defect syndromes or heroin abuse. This spectrum is expanded by our report in which a long-standing alcohol abuse was found as an attendant disease.

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