Abstract
Persistent Mullerian duct syndrome (PMDS) is usually an accidental finding either during orchidopexy or during routine inguinal hernia repair in male patients presenting with undescended testes. It is a rare form of internal male pseudohermaphroditism caused by defect in synthesis or action of Mullerian inhibiting factor due to which Mullerian derivatives such as uterus, fallopian tube and upper vagina are normally present in 46XY males. Here we present a case report of a 7 year old male presenting with bilateral undescended testes.
Highlights
Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development characterized by the persistent of Mullerian duct derivatives in a genotypic (46 XY) and phenotypic normally male
Patients often present with cryptorchidism or an inguinal hernia
Microscopic evaluation showed finding of rudimentary Mullerian structure showing fallopian tube composed of numerous delicate plical folds with intact lumen. (Figure2, 3) identified few endometrial glands embedded in stroma. (Figure 4) Subsequently the condition was explained to the parents and karyotyping was done which was suggestive of 46XY male karyotype
Summary
Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development characterized by the persistent of Mullerian duct derivatives in a genotypic (46 XY) and phenotypic normally male. [1] PMDS is transmitted in an autosomal recessive manner caused by mutation in the anti mullarian hormone gene or in the gene encoding the AMH receptor. Patients often present with cryptorchidism or an inguinal hernia. Patients often present with cryptorchidism or an inguinal hernia. Presence of uterus in the hernial sac is known as hernia uterine inguinale. A 7-year old child (reared as male) presented with swelling and pain with bilateral undescended testis. On clinical examination bilateral testes were not palpable. He had a history of testis not present in scrotum since birth. The patient had hernia at the age of 1.5 years for which herniotomy was performed. The patient was planned, prepared and taken for laproscopic orchidopexy with excision of rudimentary organ. The gross examination showed a two brownish soft tissue piece together measuring 3.5 cms in length. (Figure 4) Subsequently the condition was explained to the parents and karyotyping was done which was suggestive of 46XY male karyotype Microscopic evaluation showed finding of rudimentary Mullerian structure showing fallopian tube composed of numerous delicate plical folds with intact lumen. (Figure2, 3) identified few endometrial glands embedded in stroma. (Figure 4) Subsequently the condition was explained to the parents and karyotyping was done which was suggestive of 46XY male karyotype
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