The persistent Mullerian (paramesonephric) duct, or the uterine hernia, syndrome is a rare disorder of male sexual development. It is characterized by the persistence of the uterus, fallopian tubes and upper vagina in otherwise normally virilized boys. Despite the normal male genotype and the subsequent normal development of fetal testis, Mullerian structures do not regress due to failure in production or in response to the anti-Mullerian hormone. Since the secretion and action of testosterone is not affected, the Wolffian (mesonephric) duct derivatives and the external genitalia of the fetus progress in the normal male direction. An intersex condition is, therefore, not usually suspected but the malformation is incidentally detected during operative treatment of associated abnormalities such as inguinal hernia and undescended testis, generally in the first year of life.
The diagnosis of persistent Mullerian duct syndrome is often established when a uterus and/or fallopian tube is found along with undescended testis in a genotypically and phenotypically normal male child during repair of inguinal hernia. The relative risk of testicular tumor is not increased in patients with persistent Mullerian duct syndrome if orchiopexy is performed before two years of age. The aetiology of persistent Mullerian duct syndrome is poorly understood. Some studies suggest that inheritance which may be either X-linked or autosomal recessive with male sex limitation is a possible cause of the disorder. The observation that most cases of persistent Mullerian duct syndrome are bilateral is noteworthy. Anti-Mullerian hormone is secreted by the Sertoli cells of the fetal testis and acts ipsilaterally. The sensitivity of Mullerian duct to this hormone is present only during the ambisexual stage of the embryonic period.
A mutation in the genes encoding anti-Mullerian hormone or the AMH receptor leads to the two forms of persistent Mullerian duct syndrome, referred to as type I and type II, respectively.
See: [Saudi Arabia> Abduljabbar et al. (2012)]
Naguib et al. (1989) reported an Arab Bedouin family including four males (2 brothers and 2 of their maternal uncles) with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal hernia, cryptochidism, and persistence of Mullerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Mullerian derivatives. The presence of two affected brothers and two affected maternal uncles suggested X-linked inheritance, but the consanguinity of the parents of the maternal uncles suggested autosomal recessive inheritance.
In 1990, Mahfouz et al. (1990) described two Arab boys with a rare combination of persistent Mullerian duct syndrome and crossed testicular ectopia. The first case was that of a 16-day old boy seen for a right inguinal hernia and left cryptorchidism. He had a right herniorrhaphy at the age of 3-months, and another one at 10-months when the hernia recurred. During the second surgery, the hernia sac was found to contain two testes and an infantile uterus. The second case was that of a 27-day old boy with a large, reducible right inguinal hernia and left cryptorchidism. Both were managed by performing a hysterosalpingectomy, followed by a right inguinal herniorrhaphy, translocation of the left testis from right to the left side, and a bilateral orchidopexy. In both cases, the vasculature for the ectopic crossed left testis originated on the left. Gonadal biopsy confirmed the presence of testicular tissue. Both patients showed a normal 46,XY karyotype. Mahfouz et al. (1990) suggested that in such cases surgical repair should be undertaken with enough care to ensure that the lower end of vas deferens is preserved in order to avoid mechanical infertility.
Rizk et al. (1998) reported the syndrome of persistent Mullerian duct in an 18-month old Omani boy who presented with right sided inguinal hernia and bilateral cryptorchidism. He was born to unrelated parents after an uneventful pregnancy, and there was no relevant past or family history. Clinically, he was a phenotypically normal male with an indirect inguinal hernia and impalpable testes. During the surgical repair of hernia, an unusual hernial sac with a very wide neck connecting to the pelvic peritoneum was found, which contained a uterus and two fallopian tubes between two gonads which were confirmed to be testes by frozen section histological examination. As these testicles received their blood supply through small vessels that ran along the lateral border of the uterus and across the fallopian tubes, only bilateral orchiopexy without excision of the Mullerian structures was done, with mobilization of the testes with their attached Mullerian appendages and fixing them in their scrotal compartments and removing the hernial sac. The postoperative period was uneventful and investigations revealed a karyotype of 46XY, normal hormonal studies of ACTH stimulation test, serum LH, FSH, testosterone, dehydroepiandrosterone sufate and 17-alpha hydroxyprogesterone levels, and normal kidneys and urinary tracts on intravenous urogram. On follow up after a month, both testes were palpable in the scrotum without change in their sizes and with good blood supply as confirmed by Doppler velocimetry. Rizk et al. (1998) advised on counseling the parents about the possibility of recurrence of this condition in future males since it might be inherited in an X-linked or recessive with male sex limitation manner. They also suggested further studying of the cause of bilateral disease and if it was due to primary delayed or absent anti-Mullerian hormone secretion by the testes or secondary to higher centre control mechanism of testicular hormone secretion.
Lyer and Al-Falahi (2000) reported a 35-year old man, father of three, who presented with a right inguinal swelling for many years. Examination revealed an adult male with fully developed secondary sexual characteristics and normal male external genitalia, a reducible right inguinal hernia, normal right testis and cord, but a partially developed empty left hemiscrotum. The right inguinal region was surgically explored, which revealed a large commodious hernial sac with cord structures transversing the internal ring. The sac contained the left testis (smaller than the right one which was normal), a well formed uterus with Fallopian tubes between the gonads, and ligamentous attachments corresponding to the broad ligament. Both testes had normal epididymis, vas with its own blood supply separate from the uterus and tubes. The testis, vas and cord structures were dissected from the sac and the persistent mullerian duct structures and hysterectomy was performed. The testes were successfully fixed to their respective hemi-scrotum and this was followed by excision of the hernial sac and repair of the posterior wall. The patient was discharged after an eventful postoperative period and histopathological examination of the excised tissue revealed uterine tissue (myometrium and endometrium) with Fallopian tubes. After a month, both testes were palpable in the scrotum with their sizes unchanged with good blood flow as confirmed by Doppler velocimetry.
Abduljabbar et al. (2012) described two extended Saudi and Jordanian families affected with persistent Müllerian duct syndrome, caused by mutations in the AMH receptor type II gene. The parents of the Saudi family were first cousins. They had 6 sons and 2 daughters; among them, 4 boys and 1 girl were homozygous for a stop codon mutation (c.6053C>T) in exon 9. The proband presented with bilateral undescended testes at birth and developed left inguinal hernia at 1 year of age. Four months later, he underwent orchiopexy and hernia repair. Both testes along with the uterus, cervix, and fallopian tubes could be pulled into the left scrotum through a left inguinal incision. His three older brothers had previously undergone surgery. His remaining two brothers and sisters were clinically normal. The parents of the Jordanian family were not related; they had 2 sons and 4 daughters. Among them, 1 boy and 1 girl were homozygous for a transversion mutation (c.1973 C>G) in exon 6. The proband was a 2 day-old boy who presented with impalpable testes. At the age of 9 months, laparoscopy showed a left inguinal hernia containing both testes with a uterus and cervix. They were returned to the abdominal cavity and the uterus was dissected and removed, then the testes were fixed intro the scrotum. His brother and 4 sisters were clinically normal.
Al-Faris et al., (2016) described a 14-month-old Saudi boy with Persistent Müllerian duct syndrome. He presented at 27 days of age with swelling in the right groin area, which was irreducible to the inguinal canal. Redness on the skin of the right groin area was also observed, which extended to the right scrotum. He underwent a surgery; the testis was pulled down to the scrotum in the normal anatomical position. His left testis was not palpable in the scrotum or in the groin area. After a year, he underwent right orchidopexy and left testis exploration that revealed small left intra-abdominal gonads in a position similar to ovary, a small uterus and vagina in the midline. The biopsy and histology of tissue revealed immature testicular tissues. MRI of the pelvis showed normal male urethra with the presence of a small uterus and vagina but no definite testicle or ovaries. Genetic testing revealed a homozygous c.994C>T mutation in the AMHR2 gene.
Between 1993-2002, El-Gohary (2003) used both diagnostic and operative laparoscopy in the management of five cases of persistent mullerian duct syndrome. Two siblings from two different families accounted for four of the cases. Their age at presentation ranged from 7 months to 5 years of age. They presented with cryptorchidism and inguinal hernias. The impalpable testes were on the left in three, on the right in one and bilateral in one. The latter case had been managed previously in another hospital by an open technique, and the diagnosis was missed. Transverse testicular ectopia was present in two unrelated boys. All the cases were managed by splitting the uterus in the midline and then bringing the testis with the vas and attached uterine tissue into the scrotum. Three of the five cases were managed laparoscopically. Follow-up of 6 months to 10 years showed satisfactory results in four of the five cases.
[See also: Oman > Rizk et al., 1998].
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