گزارش یک مورد نادر بیماری مادرزادی: Persistent Mullerian Duct Syndrome (PMDS) در یک آقای 71 ساله

Persistent Mullerian Duct Syndrome in a 71-Year-Old Man, Case Report H. Salehi MD , M.R. Vatani Baf MD Received:27/06/06 Sent for Revision: 11/10/06 Received Revised Manuscript: 07/02/07 Accepted: 12/02/07 Background and Objective: Normal sexual differentiation occurs in the 6th embryonic week and in a normal embryonic life. Both wolffian and mullerian ducts are present until the onset of sexual differentiation. Normal sexual differentiation is directed by the sex-determining region of the Y chromosome (SRY). Secretion of mullerian inhibiting substance (MIS) by sertoli cells results in regression of the mullerian duct in males. Any disruption of orderly steps in sexual differentiation may be reflected clinically as variants of the intersexes syndromes. One of the rarest forms of these syndromes is Persistent Mullerian Duct Syndrome (PMDS). This syndrome is caused by lack of regression and development of mullerian system and formation of female genital tract including uterus, fallopian tubes and two thirds of upper part of vaginal in male. While bilateral cryptorchidism, inguinal hernia and infertility are usually associated with this syndrome, external genital organs are normal. The diagnosis is usually made in the first years of life. Case Report: The presented case, a 71-year-old man, admitted to the surgical ward of Ali-ebn-Abitalib Hospital in Rafsanjan was diagnosed with a large right inguinal hernia. Physical examination of external genital tract was normal. The findings at operation were as follows: the uterus was attached to spermatic cord in the internal ring. Hysterectomy was done. Orchiectomy was also performed due to severe adhesion of the uterus to spermatic cord and rupture of the spermatic vessels. Pathologic examination of the resected tissues confirmed the diagnosis of PMDS. Conclusion: This syndrome is typically diagnosed by cryptorchidism and inguinal hernia during early years of life. Infertility is also a common finding in this syndrome. Although, there are a number of diagnostic procedures including sonography for detection of PMDS, this syndrome is almost recognised through operations casual. Rarity of PMDS and also unusual findings regarding this case including old age, the absence of infertility and cryptorchidism were the reasons for reporting this case. Key words: Persistent Mullerian Duct Syndrome, Cryptorchidism, Infertility