Acephalic spermatozoa and abnormal development of the head-neck attachment: a human syndrome of genetic origin.

A series of 10 young sterile men with acephalic spermatozoa or abnormal head-mid-piece attachments is presented. Nine of these patients had 75-100% spermatozoa with minute cephalic ends and 0-25% abnormal head-middle piece attachments. Loose heads ranged between 0-35 for each 100 spermatozoa and normal forms were rare. Two patients were brothers. On ultrastructural examination, the head was generally absent and the middle piece was covered by the plasma membrane. When present, heads implanted at abnormal angles on the middle piece. A testicular biopsy showed abnormal spermiogenesis. The implantation fossa was absent and the flagellar anlage developed independently from the nucleus, resulting in abnormal head-middle piece connections. In one patient azoospermia was induced with testosterone to attempt to increase the normal sperm clone during the rebound phenomenon, but all newly formed spermatozoa were acephalic. In another patient with high numbers of defective head-mid-piece connections, microinjections of spermatozoa resulted in four fertilized oocytes, but syngamy and cleavage did not take place, suggesting an abnormal function of the centrioles. The findings indicate that acephalic spermatozoa arise in the testis as the result of an abnormal neck development during spermiogenesis. The familial incidence and the typical phenotype strongly suggest a genetic origin of the syndrome.

Varicocele in prepubertal boys. Evaluation of clinical Doppler and hormonal findings.

Hormonal, clinical and scrotal Doppler findings were assessed in 16 prepubertal patients having unilateral varicocele. As already described in pubertal patients, Doppler studies made it possible to detect patterns of prolonged, intermittent or permanent reflux. An LH-RH test and an hCG test measuring LH, FSH and testosterone (T) were performed in all cases. Patients with varicocele showed (median and range): LH B (mlU/ml): 0.40 (0.40-2.1); LH Mx.: 3.7 (1.1-15); FSH B (mlU/ml): 1.95 (0.40-4.5); FSH Mx.: 4.9 (3.1-10); T B (ng/ml): 0.2 (0.1-1.5); T Post.: 2.25 (0.82-11.5). The control group showed: LH B (mlU/ml): 0.40 (0.4-0.85); LH Mx.: 2.15 (0.63-12) FSH B (mlU/ml): 1.45 (0.4-3); FSH Mx.: 4.25 (2.6-5.9); T B (ng/ml): 0.1 (0.1-0.3); T Post.: 3.26 (1.0-5.6). No significant differences were found between the hormonal results of the different groups classified according to the scrotal findings. Basal LH and FSH in grade 3 varicoceles were found to be significantly higher (p < 0.05) than those of the control group. Basal T, as well as the maximal response of both gonadotropins to LH-RH, and T response to hCG showed no significant differences with reference to the control group. Our findings provide indirect support to the notion that the gonadal damage would become detectable from puberty onwards.

Pubertal varicocele: correlation between clinical, Doppler, and hormonal findings.

Clinical, Doppler, and hormonal findings in puberal patients with unilateral and bilateral varicocele were evaluated. No correlation was found between clinical and hormonal findings. A significant increase was found in LH response to LH-RH in patients with bilateral varicocele as well as an increase in T to hCG in those with unilateral varicocele with prolonged reflux. Further longitudinal, hormonal, and Doppler studies in puberal patients might provide information about the most useful parameters to define those individuals at higher risk of having future problems.

Phagocytosis of ejaculated spermatozoa.

In patients with accessory gland infections or subjects who have sperm antibodies in their semen, the presence of macrophages with phagocytic activity on ejaculated spermatozoa is significant. Light microscopy cannot certify phagocytosis because it does not give a three-dimensional view of the cells and can lead one to mistake superficial adherence of the spermatozoa to the macrophage for phagocytic activity. For that reason, scanning electron microscopy was used in this study. The samples, fixed with 2.5% glutaraldehyde in phosphate-buffered saline, were processed for observation with light microscopy (Giemsa or Papanicolaou stain) or with scanning electron microscopy (cell selection, critical point drying and paladium-platinum sputtering). With scanning electron microscopy, inactive macrophages had large membrane folds and a globular structure similar to those seen in ascites, whereas when active, they decreased in volume and developed a surface with granules or blebs. Inactive macrophages were rarely seen. A few minutes after mixing the different fractions of the ejaculate, phagocytosis reached such a level of activity that the spermatozoa partly covered the macrophages. Thus, we observed that the spermatozoa were caught by the head first in some instances but by the main-piece fragment of the tail first in other instances; very rarely were they taken by the midportion, between the head and tail. The presence in the ejaculate of macrophages with phagocytic activity on living, motile spermatozoa thus indicates that the encounter between the macrophages and spermatozoa was a result of the assemblage of components that make up the ejaculate. In this way the contributions of the prostatic gland and seminal vesicles play an important part in the spermiophagy of spermatozoa.

Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility.

A study of a group of five patients presenting with primary sterility and showing severe sperm immotility is presented. Most spermatozoa in these patients showed rigid, short, thick, and/or irregular tails and 95 to 100% were immotile. Electron-microscopy disclosed a common pattern of flagellar abnormalities. There was a dysplastic development of the fibrous sheath, which appeared hyperplastic and disorganized. The axoneme was either missing or grossly distorted. In a few instances, a normal flagellum could be identified. Similar alterations also were detected in maturing spermatids, suggesting that the described defect develops during spermiogenesis. Two of the five patients had recurrent bronchial and sinusal infections and bronchiectasis, suggesting the possible existence of an associated abnormality in respiratory cilia. The existence of a common ultrastructural defect affecting most spermatozoa, its presence in two brothers, and the possibility of association with immotile respiratory cilia point to the existence of a syndrome (namely the "dysplasia of the fibrous sheath") of possible familial transmission.