J Clin Pathol: first published as 10.1136/jcp.22.6.725 on 1 November 1969. Downloaded from J. clin. Path. (1969), 22, 725-730 Congenital mesonephric defects in male infants with mucoviscidosis J. R. OLSON AND D. K. WEAVER From the Department ofPathology, The University ofMichigan Medical Center, Ann Arbor, Michigan, USA SYNOPSIS Reports that men with mucoviscidosis were sterile and that portions of their genital tracts were atretic prompted us to investigate the genital tracts of 15 male infants with mucoviscidosis who died within the first year of life and came to necropsy. The genital tracts of all of these infants were abnormal, the abnormalities being confined to mesonephric derivatives. Hypoplastic or absent ducti efferentia, ducti epididymides, or ducti deferentia were found in all 28 specimens of epididy- mides, and the ducti deferentia were missing from 25 of 27 examples of spermatic cord. The seminal vesicles and the ejaculatory ducts were less frequently hypoplastic or absent. Because these abnormalities of mesonephric derivatives were present so early in life and inflammatory and obstructive changes were absent we believe that they resulted from a failure of development. An outcome of the lengthening of life of patients serially blocked and, in selected instances, serially copyright. with mucoviscidosis is the realization that those who sectioned. In cases 2, 4, and 10 enough material was reach adulthood and are male are infertile. Denning, available to enable us to dissect bilaterally the testis, Sommers, and Quigley (1968) reported azoospermia epididymis, spermatic cord, seminal vesicle, and prostate gland. In case 6, these tissues were available for com- in nine patients with mucoviscidosis. Kaplan, plete dissection from one side only. Significant portions Shwachman, Perlmutter, Rule, Khaw, and Holsclaw of the testes and genital tracts were available from both (1968) confirmed that their 25 adult male patients sides of nine of the 11 remaining subjects; in the other with mucoviscidosis had azoospermia. Furthermore, two the material was available from one side only. http://jcp.bmj.com/ 10 males from 5 to 20 years of age were found at Control tissues of mesonephric derivatives were obtained necropsy to have absent ducti deferentia and five of from six male infants who had died in accidents, suddenly six had incompletely developed epididymides. Seven and unexpectedly in so-called 'cot deaths', or from patients from 3 to 24 years of age underwent surgical neoplasms. exploration of the spermatic cord and in all the ducti The epididymides, spermatic cords, seminal vesicles, and ejaculatory ducts were examined in all subjects and deferentia were absent. designated normal, absent, or hypoplastic. The last term Left unresolved was the age at which these referred to those mesonephric derivatives which contained on September 29, 2021 by guest. Protected abnormalities first appeared, since the youngest less than one-half the number of units present in the patient reported by Kaplan et al (1968) was 3 years controls. old. Our study was undertaken to find out if such abnormalities occur in the genital tract of infant RESULTS males with mucoviscidosis and, if they do, to determine if the lesions are congenital or acquired. The age of the patients and the results are sum- marized in Table I. METHODS AND MATERIALS Material from the genital tract of 15 male infants THE EPIDIDYMIS Grossly the epididymis either was obtained from necropsies performed in The Uni- appeared normal or hypoplastic. Three epithelial versity of Michigan Medical Centre between 1946 and parts of 28 epididymides were examined micro- 1968. All of the infants had histological (Bodian, 1952) scopically: the ductuli efferentes, the ductus and clinical manifestations of mucoviscidosis. In 14 cases epididymis, and the ductus deferens (Figs. la and fixed but unblocked tissue was available. This stock was lb). The ductuli efferentes were absent in 12 Received for publication 20 March 1969. specimens; however, they were absent bilaterally in 725 J Clin Pathol: first published as 10.1136/jcp.22.6.725 on 1 November 1969. Downloaded from 726 J. R. Olson and D. K. Weaver TABLE I SUMMARY OF ABNORMALITIES' Epididymis Spermatic Cord - Seminal Vesicle Ejaculatory Ductuli Ductus Ductus Ductus Paradidymis Duct Case Age Efferentes Epididymis Deferens Deferens 1 9 days Hypoplastic Hypoplastic Absent Absent Hypoplastic Absent Hypoplastic with atresia Absent of the epithelium 2 9 days Absent Absent Absent Normal Normal Normal Hypoplastic Hypoplastic Absent Absent Normal Normal 3 15 days Hypoplastic Hypoplastic Absent Absent Normal Normal 4 18 days Absent Hypoplastic Absent Absent Normal Hypoplastic with atresia of Absent the epithelium Absent Hypoplastic Absent Absent Normal Absent Absent 5 20 days Hypoplastic Hypoplastic Normal Hypoplastic Normal Absent Absent Absent Absent Absent Hypoplastic with atresia of the epithelium 6 8 wk Hypoplastic Hypoplastic Hypoplast ic Absent Normal Normal Absent Absent Normal 7 10 wk Hypoplastic Hypoplastic Absent Absent Absent Hypoplastic Hypoplastic Absent Absent Hypoplastic with atresia of the epithelium 8 10 wk Absent Absent Absent Absent Hypoplastic Absent Absent Absent 9 3 mth Absent Absent Absent Absent Normal Hypoplastic Hypoplastic Absent Absent 10 3 mth Hypoplastic Hypoplastic Absent Absent Normal Absent Normal Hypoplast ic Hypoplastic Absent Absent Normal Normal Normal 1 1 3 5 mth Absent Hypoplastic Absent Absent Absent Absent Absent Absent 12 6 5 mth Absent Hypoplastic Absent Absent Normal Normal Absent Hypoplastic Absent Absent Normal copyright. 13 8 mth Absent Hypoplastic Absent Absent Normal Absent Hypoplastic Absent Absent Normal 14 11 mth Hypoplastic Absent Normal Absent Normal Hypoplastic Hypoplastic Normal Absent Normal Normal 15 11 mth Hypoplastic Hypoplastic Absent Absent Normal Hypoplastic Hypoplastic Absent Absent Normal Normal Absent Absent Absent Absent Normal Absent Absent 12 8 22 25 12 6 4 Hypoplastic Hypoplastic Hypoplastic Hypoplastic Atresia Normal 16 20 l I 3 7 http://jcp.bmj.com/ Normal Normal Atresia Normal Normal 0 0 1 I 9 Normal 4 Total 28 28 28 27 12 18 II 'In cases 6, 9, 12, and 15, the seminal vesicles and ejaculatory ducts did not necessarily come from the same side as the epididymides and spermatic cords. on September 29, 2021 by guest. Protected only three subjects (Table I). In 16 specimens, the levels of the spermatic cord in six of the seven ductuli efferentes were hypoplastic; in none of the examples where the entire cord was available even material were the ductuli efferentes normal. The though the spermatic cord was normal externally in ductus epididymis was absent in eight specimens. all cases. In 19 specimens, the ductus deferens was The ductus epididymis was absent on both sides in absent at the levels represented in the stock material. only one subject. The remaining 20 epididymides all One ductus was hypoplastic with a stenotic lumen had hypoplasia of the ductus epididymis. Within (Fig. 2a) and one was normal. In three cases nodular the 28 epididymides, the ductus deferens was absent proliferations of smooth muscle representing the in 22, hypoplastic in one, hypoplastic with atresia of ductus deferens with absent epithelium were found the epithelium in one, and normal in four. The only at the proximal or distal ends of the spermatic ductus deferens was bilaterally absent in nine cord (Fig. 2b). The ductus deferens was absent subjects. bilaterally in 10 subjects. Paradidymis was found in 12 of 27 specimens. This mesonephric remnant THE SPERMATIC CORD The ductus deferens was (Fig. 3) should not be confused with the ductus sought for in 27 specimens. It was absent at all deferens. We did not find any abnormalities of the J Clin Pathol: first published as 10.1136/jcp.22.6.725 on 1 November 1969. Downloaded from 727 6..j '?. >.i$f.. FIG. la. copyright. FIG. 2a. http://jcp.bmj.com/ on September 29, 2021 by guest. Protected FIG. lb. FIG. Ia. Normal epididymis of 3-month-old; death due to metastatic neuroblastoma. Haematoxylin x 24. FIG. lb. Mucoviscidosis, case 2. Hypoplasia ofepididymis. Haematoxylin and eosin x 30. FIGS. 2a and 2b. (a) Mucoviscidosis, case 5. Ductus deferens (within spermatic cord); stenosis of the lumen. Haemat- oxylin and eosin x 125. (b) Mucoviscidosis, case 7. Ductus to atresia deferens (adjacent seminal vesicle); ofepithelium. I 2b Ductus deferens was absent within the sp3rmatic cord. 41 Haematoxylin and eosin x 130. FIG. 2b. J Clin Pathol: first published as 10.1136/jcp.22.6.725 on 1 November 1969. Downloaded from 728 J. R. Olson and D. K. Weaver spermatic artery or veins, interstitial connective ..'r tissues, or the cremaster muscle. THE SEMINAL VESICLE Eighteen vesicles could be evaluated in 11 subjects. In four of the subjects the seminal vesicle was absent on one side, and in three of these four (Fig. 4) the opposite seminal vesicle was hypoplastic and devoid of epithelium (Figs. 5a and b). The seminal vesicle was absent bilaterally in one i. subject. Nine seminal vesicles were normal in seven subjects; in two of these seven the seminal vesicles were normal on both sides. THE EJACULATORY DUCT In six subjects, 11 ejacu- latory ducts were evaluated. The ejaculatory ducts were absent bilaterally in two of the subjects: four subjects had normal ejaculatory ducts, three bilaterally. THE TESTIS All the testes except one were normal. The exception was the left testis in case 1 which contained a large recent haemorrhagic infarct. This FIG. 3. Mucoviscidosis, case 10. Paradidymis within may have been secondary to abdominal surgery for spermatic cord. This structure should not be confused meconium ileus on the day of birth. Germinal cells and eosin x 140. were recognized within the seminiferous tubules of with the ductus deferens. Haematoxylin copyright. all the testes. THE PROSTATE All the prostate glands were normal except for those subjects with absent ejaculatory ducts. CONTROLS No abnormalities were found in the testes, epididymides, spermatic cordg, seminal http://jcp.bmj.com/ vesicles, ejaculatory ducts, and prostate glands of the six control subjects.