Download The persistent Mullerian (paramesonephric) duct, or the uterine

Inguinal Hernia with a Persistent Mullerian Duct
Syndrome and Transverse Testicular Ectopia
A Case Report
Mohammed J. Aboud
The Maternity and Child Teaching Hospital, Al-Qadisiya
Abstract
We present a case of Transverse testicular ectopia (TTE)of the left testis that
presented to our pediatric surgery unit at the Maternity and children Teaching hospital
with right inguinal hernia and an impalpable testis in the left scrotum. During the
exploration of the right inguinal region, pulling of the right gonad in the hernia sac
caused protrusion of another gonad . The uterus, fallopian tubes and both testes were
unexpectedly found within the hernia sac. TTE should be suspected preoperatively in
patients who have unilateral inguinal hernia associated with a contralateral nonpalpable
testis. If TTE is found, this itself represents an indication to search for PMDS.
Case report
A 1.4 year-old boy presents R.I.H. was operated. Right herniotomy was performed
and left testis was found in the right inguinal canal (picture -1-) which was brought to the
left scrotum and anchored through suprapubic subcutaneous tunnel. During the
exploration of the right inguinal region, pulling of the right gonad in the hernia sac
caused protrusion of another gonad (picture -2-). The macroscopic appearance of both
gonads was testis associated with fimbria-like structures. Both gonads had vas deferenses
and vascular supplies.
During operation, the right inguinal exploration revealed a normal testis within the
right scrotum associated with an indirect inguinal hernia. The uterus, fallopian tubes and
both testes were unexpectedly found within the hernia sac ( picture -3-).
During dissection, the left testis was encountered in the right inguinal canal. Each
testes was noted to have its corresponding spermatic cord, and had two vasadeferentia
which were separated, the two testes were of a good size identical in appearance. Each
had its own vascular pedicle. the patient underwent bilateral proximal salpingectomies,
leaving the fimbria with each epididymis, hysterectomy and pedicles of myometrium left
with the vasa deferentia. The cervix was split longitudinally in the midline to achieve
successful bilateral orchidopexy after mobilizing the internal spermatic vessels (picture 4-). The left testis was anchored through suprapubic tunnel. Biopsy revealed testes and
hypoplastic uterine tissue
Discussion
Müllerian (paramesonephric) ducts and wolffian (mesonephric) ducts are the
anlagen of the female and male reproductive tracts, respectively. In the XY fetus, the
testis differentiates by the end of the seventh gestational week. Sertoli cells begin to
secrete AMH, which is responsible for the regression of the Müllerian ducts. The AMH
binds to a specific Type II serine-threonine kinase transmembrane receptor (AMHR-II).
Human AMH gene localized near the tip of Chromosome 19, AMHR2 gene is located on
12q13. The type of persistent Mullerian duct syndrome caused by mutation in the AMH
gene will be referred to as Type I, that which forms due to mutation in the AMH receptor
(AMHR) will be designated as Type II )Imbeaud et al., 1995). In 45%, a mutation of the
anti-mullerian hormone (AMH) gene was detected; in 39% mutation of the Type II
receptor of AMH was detected; in 16% the cause is unknown(Belville et al., 1999). There
are two morphological forms of PMDS. Female form (10-20%) is characterized by the
presence of bilateral cryptorchidism with no herniation of Mullerian duct structures and
testes. Uterus and fallopian tubes are fixed in the pelvis and testes are embedded in the
broad ligament. Male form (80-90%) is characterized by the presence of unilateral
cryptorchidism with contralateral inguinal hernia containing the Mullerian structures and
the testes. Male form is subdivided into two types. In type-I, hernia sac contains uterus,
both fallopian tubes and both testes (hernii uteri inguinalis with TTE). This patient
belonged to type-I. In type-II, hernia sac contains uterus, ipsilateral fallopian tube and
ipsilateral testis (classic hernii uteri inguinalis)(Josso et al., 2005; Ozturk et al., 2007).
One testis is usually in the scrotum, the uterus and fallopian tube being pulled into the
canal by traction on the undescended testis. The contralateral testis and the fallopian tube
may also appear in the hernia sac, as in our patient. The “female” type is associated with
both enough to reach the scrotum, orchidectomy should be performed (Vandersteen, et
al., 1997).Cross-orchidopexy is required in transverse testicular ectopia(Guerrier and
Tran, 1989). As in our case, Clinically, patients suffering from PMDS present during
infancy, childhood or adulthood with cryptorchidism, inguinal hernia or infertility
(Delaney et al., 2004; Liang et al., 2006; Shamim , 2007).
The diagnosis of PMDS is often made incidentally during surgery for an inguinal
hernia or during exploration for cryptorchidism, since the PMDS does not affect
organogenesis of male external genitalia and the Mullerian remnants are not palpable on
abdominal examination. Because PMDS may be discovered incidentally during pediatric
surgery for undescended testis or inguinal hernia, the initial procedure may need to
include replacement of the gonads and Mu¨llerian structures within the pelvis and repair
of the inguinal hernia. After confirmation of the diagnosis of PMDS, definitive surgery
should be performed to remove the corpus of the uterus and fallopian tubes to enable
fixation of the testes in the scrotum. Hysterectomy is indicated only when Mullerian
structures limit intrascrotal placement of the testes (Buchholz et al., 1998).
The patient or his family should be completely informed of the diagnosis, the surgical
options, and the need for long-term follow-up. Finally, genetic counseling must be
offered to the patient or his parents because of the possible chromosomal origin of the
syndrome(Sheehan et al., 1985).
TTE should be suspected preoperatively in patients who have unilateral inguinal hernia
associated with a contralateral nonpalpable testis(Karnak et al., 1997). If TTE is found,
this itself represents an indication to search for PMDS(Buchholz et al., 1998). PMDS is
usually coincidentally detected in surgical operations(Lima et al., 1997) as it was in our
patient.
References
Belville C, Josso N, Picard JY. (1999). Persistence of mullerian derivatives in males. Am
J Med Genet ;89:218-23.
Buchholz NP, Biyabani R, Herzig MJU et al. (1998)Persistent m.llerian duct syndrome.
Eur Urol 34: 230-232.
Delaney DP, Kolon TF, Zderic SA. (2004). Persistent Mullerian duct syndrome
associated with 47, XXY genotype. J Urol; 171 (2 pt 1):852-3.
Guerrier D, Tran D, Vanderwinden JM, Hideux S, Van Outryve L, Legeai L, et al.
(1989). The persistent müllerian duct syndrome: a molecular approach. J Clin
Endocrinol Metab;68:46-52.
Imbeaud S, Faure E, Lamarre I, Mattei MG, Clemente N, Tizard R, et al . (1995).
Insensitivity to anti-mullerian hormone due to a mutation in the human anti-Mullerian
hormone receptor. Nat Genet ;11:382-8.
Josso N, Belville C, di Clemente N, Picard JY. (2005) AMH and AMH receptor defects
in persistent Mullerian duct syndrome. Hum Reprod Update; 11:351-6.
Karnak I, Tanyel FC, Akcoren Z, Hicsonmez A: (1997). Transverse testicular ectopia
with persistent müllerian duct syndrome. J Pediatr Surg. 32(9):1362-4 .
Liang YY, Zheng FF, Dai YP, Zheng KL, Zhou JX. (2006). Persistent Mullerian duct
syndrome with transverse testicular ectopia. Asian J Androl; 8:745-7.
Lima M., Domini M., Libra M. (1997). Persistent mullerian duct syndrome associated
with transverse testicular ectopia : a case report. Eur J Pediatr Surg, 7 : 60-2.
Ozturk H, Eroglu M, Ozturk H, Uzunlar AK, Okur H. (2007). Persistent Mullerian duct
syndrome with transverse testicular ectopia: report of two cases. Fetal Pediatr Pathol;
26: 41-6.
Shamim M. (2007). Persistent Mullerian duct syndrome with transverse testicular ectopia
presenting in an irreducible recurrent inguinal hernia. J Pak Med Assoc; 57:421-3.
Sheehan SJ, Tobbia IN, Ismail MA, Kelly DG, Duff FA. Persistent mu¨ llerian duct
syndrome: review and report of 3 cases. Br J Urol 1985; 57:548– 551.
Vandersteen DR, Chaumeton AK, Ireland K, Tank ES. (1997). Surgical management of
persistent müllerian duct syndrome. Urology; 49: 941-5.
Picture -1- Right herniotomy was performed and left testis was found in the right
inguinal canal .
Picture -2-Pulling of the right gonad in the hernia sac caused protrusion of another
gonad.
Picture -3-The uterus, fallopian tubes and both testes were unexpectedly found
within the hernia sac .
Picture-4- The cervix was split longitudinally in the midline to achieve successful
bilateral orchidopexy after mobilizing the internal spermatic vessels .