Muhammad Saleem1, Uzma Ather2, Bilal Mirza3, Shahid Iqbal4, Afzal Sheikh5, Mahmood Shaukat6, Muhammad Tahir Sheikh7, Farooq Ahmad8, Tariq Rehan9. 1. Department of Paediatric Surgery, The Children's Hospital & the Institute of Child Health Lahore, Pakistan. Electronic address: msalimc@yahoo.com. 2. Department of Gynaecology, Al-Noor Medical Centre, Lahore. Electronic address: atheruzma@yahoo.com. 3. Department of Paediatric Surgery, The Children's Hospital & the Institute of Child Health Lahore, Pakistan. Electronic address: bl_mirza@yahoo.com. 4. Department of Paediatric Surgery, The Children's Hospital & the Institute of Child Health Lahore, Pakistan. Electronic address: drssiqbal@yahoo.com. 5. Department of Paediatric Surgery, The Children's Hospital & the Institute of Child Health Lahore, Pakistan. Electronic address: profafzalsheikh@gmail.com. 6. Department of Paediatric Surgery, Mayo Hospital/KEMC, Lahore. Electronic address: mahshaukat@gmail.com. 7. Department of Paediatric Surgery, Mayo Hospital/KEMC, Lahore. Electronic address: dr.tahir@gmail.com. 8. Department of General Surgery, BVH, Bahawalpur. Electronic address: farooqahmed56@yahoo.com. 9. Department of General Surgery, BVH, Bahawalpur. Electronic address: tmrehan@yahoo.com.
Abstract
BACKGROUND: Persistence of mullerian duct derivatives in otherwise normal male child is a very rare disorder. This may lead to diagnostic as well as management dilemma. MATERIALS AND METHODS: The medical record of 27 cases of persistent mullerian duct syndrome (PMDS) operated in three teaching hospitals more than a period of 24years is retrieved and analyzed for demography, clinical presentation, investigations, and treatment. RESULTS: There were a total of twenty seven male children with PMDS. The age was ranged between 3months and 19years. Ten patients presented with isolated bilateral UDT, six patients with bilateral UDT and unilateral inguinal hernia (4 left and 2 right sided inguinal hernia), and eight patients presented with right inguinal hernia and left sided UDT. Eight of 27 patients showed familial trends i.e. four pairs of brothers had PMDS in our series. In 21 patients, the diagnosis was made incidentally while operating for UDT and inguinal hernia. At operation 5 patients had female type of PMDS and 22 patients had male type PMDS. In 6 patients (male type), the PMDS was associated with transverse testicular ectopia. In 18 patients the initial operation was performed through inguinal incision with excision of mullerian remnants in the same settings in 12 patients. In 4 patients, straightforward laparotomy performed (familial cases) to excise mullerian remnants. In 5 patients, the PMDS was diagnosed on laparoscopy; initially biopsy of these remnants and gonads was done followed by excision of remnants by laparotomy approach. Biopsies taken from gonads in each patient revealed testicular tissue with variable degree of immaturity and dysplasia. The biopsy of mullerian remnants did not reveal any malignancy. All patients were genotypically male. CONCLUSION: Isolated undescended testes, left UDT and right inguinal hernia, bilateral UDT and unilateral inguinal hernia are the main presenting features of PMDS. About 30% of the patients showed familial tendency. Inguinal exploration for UDT or inguinal hernia, and laparoscopy for UDT reveal incidental findings of mullerian remnants. PMDS can be managed as single stage procedure however two stage procedure including gonadal biopsies in first stage followed by mullerian remnants excision and orchidopexy in the second stage can be opted if there is doubt about gonads and genotype.
BACKGROUND: Persistence of mullerian duct derivatives in otherwise normal male child is a very rare disorder. This may lead to diagnostic as well as management dilemma. MATERIALS AND METHODS: The medical record of 27 cases of persistent mullerian duct syndrome (PMDS) operated in three teaching hospitals more than a period of 24years is retrieved and analyzed for demography, clinical presentation, investigations, and treatment. RESULTS: There were a total of twenty seven male children with PMDS. The age was ranged between 3months and 19years. Ten patients presented with isolated bilateral UDT, six patients with bilateral UDT and unilateral inguinal hernia (4 left and 2 right sided inguinal hernia), and eight patients presented with right inguinal hernia and left sided UDT. Eight of 27 patients showed familial trends i.e. four pairs of brothers had PMDS in our series. In 21 patients, the diagnosis was made incidentally while operating for UDT and inguinal hernia. At operation 5 patients had female type of PMDS and 22 patients had male type PMDS. In 6 patients (male type), the PMDS was associated with transverse testicular ectopia. In 18 patients the initial operation was performed through inguinal incision with excision of mullerian remnants in the same settings in 12 patients. In 4 patients, straightforward laparotomy performed (familial cases) to excise mullerian remnants. In 5 patients, the PMDS was diagnosed on laparoscopy; initially biopsy of these remnants and gonads was done followed by excision of remnants by laparotomy approach. Biopsies taken from gonads in each patient revealed testicular tissue with variable degree of immaturity and dysplasia. The biopsy of mullerian remnants did not reveal any malignancy. All patients were genotypically male. CONCLUSION: Isolated undescended testes, left UDT and right inguinal hernia, bilateral UDT and unilateral inguinal hernia are the main presenting features of PMDS. About 30% of the patients showed familial tendency. Inguinal exploration for UDT or inguinal hernia, and laparoscopy for UDT reveal incidental findings of mullerian remnants. PMDS can be managed as single stage procedure however two stage procedure including gonadal biopsies in first stage followed by mullerian remnants excision and orchidopexy in the second stage can be opted if there is doubt about gonads and genotype.
Authors: Josephine K Dermawan; Lei Zhang; Samuel Singer; Ping Chi; Cristina R Antonescu Journal: Genes Chromosomes Cancer Date: 2021-10-23 Impact factor: 5.006