CASE REPORT PROF-2366 TESTICULAR TUMOR IN A CRYPTORCHID HERMAPHRODITE; A CASE REPORT

Prof. Faisal G. Bhopal Dr. Faryal Azhar, Sadaf Faisal Bhopal, Kamran Faisal Bhopal

Article Citation Bhopal FG, Azhar F, Bhopal SF, Bhopal KF. Testicular tumor in a cryptorchid hermaphrodite; a case report. Professional Med J 2013; 20(6): 1058-1064.

INTRODUCTION Abdomen CASE HISTORY Umbilicus was central & inverted. There was visible A 45 years old Labourer father of 5 children from bulge in Right Iliac Fossa. A palpable mass was Mandi Bahauddin was admitted through out-patient present in hypogastrium and RIF measuring 10 x 9 cm department in February, 2010. Presented with painful on ultrasound abdomen and pelvis. Large fibrous swelling in lower abdomen for last 15 days. Swelling mass in right side of pelvis 10x9 cm pushing urinary rapidly increased in size. It started in the RIF then bladder up. It was tender, hard, partly mobile, upper involved the hypogastrium and became painful. Pain limit was reachable but lower limit was not. Liver and was constant dull ache, relieved somewhat after spleen were not palpable. On digital rectal micturition. There was H/O Anorexia & Significant examination, a hard extra-rectal mass was palpable weight loss over 6 months. There was no H/O Bowel anteriorly, about 7 cm from anal verge. Scrotum was complaints or urinary complaints. not developed. Testes were not palpable in scrotum or groin bilaterally. His phallus was normally developed There was no past history of prolonged illness with external urinary meatus at the tip. There was requiring hospitalization or investigations. normal distribution of the pubic hair and other secondary sexual characters were present. In Personal history. He was Smoker for last 20 years, Respiratory and Cardiovascular system were smoked 1 pack per day. He was married with 5 unremarkable. children (4 sons 1 daughter). Youngest is 3 years old. He belonged to Lower Middle class. Family history PROVISIONAL DIAGNOSIS of Bilateral undescended was Insignificant. testes with Lower Abdominal Mass (? Testicular Tumor) was made. On examination, he was Middle aged man sitting comfortably, well oriented with Pulse of 82/min, BP: INVESTIGATIONS 110/70 mm of Hg, Temp: 98fh & R/R: 18/min. FBC: Hb 13.4 g/dl, TLC 9100 /cumm, There was no pallor, Jaundice, Clubbing, Cyanosis or Platelets 230000 /cumm Pedal oedema. JVP was normal. No Lymph nodes or ESR: 29, Thyroid swelling were palpable. Neutrophils 77%, Lymphocytes 12%, Systemic examination was Unremarkable Monocytes 6%, LFTs : Bilirubin : 0.8 mg/dl, Oro-dental hygiene was good. ALT: 19,

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PT: 15/13, MRI pelvis APTT: 31/30, 20 cm sized mass in the pelvis extending into the lower BSR: 135 mg/dl, abdomen with well defined borders. Uterine cavity RFTs : Urea: 33 mg/dl. rudimentary vagina can be appriciated. Alpha Feto Protein: 4.19 ng/ml (Normal value upto 8.4) Conclusion B-HCG: 15.6 mIU/ml (Normal value <5), Tumour arising from right undescended testis. Lymph S. LDH: 925 U/L (Normal value < 480) nodes behind the uterus forming a mass, pushing the urinary bladder forward. Semen Analysis Azoospermia Diagnosis of testicular tumour with bilateral Ultrasound abdomen and pelvis: Large fibrous mass cryptorchidism was made. in right side of pelvis 10x9 cm pushing urinary bladder up.

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Left Testis at the end of fallopian tube & uterus with LN mass, after removal of Right testicular tumour.

Resected specimen Showing, Uterus with both fallopian tubes, LN mass behind uterus, left testis at the end of left fallopian tube & right testicular tumour.

OPERATIVE FINDINGS A Large right testicular intra abdominal mass. Uterus with fallopian tubes and blind ended vagina was present. Left intra abdominal testis was normal looking. There was a Large lymph node mass in the hypogastrium behind the uterus, extending to blood vessels and right ureter. No ascites or liver mets were present.

OPERATIVE PROCEDURE Right testicular tumour mass was resected. Uterus with fallopian tubes, left testis and blind ended vagina Left Normal Testis were resected en-block with lymph nodes except a rim

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Resected specimen Showing, Uterus & both fallopian tubes opened, LN mass behind uterus, left testis at the Right testicular tumour Cut section. end of left fallopian tube. right testicular tumour.

of tissue which was engulfing iliac blood vessels. Sexual differentiation is on the basis of Psychological Sex and Organic sex Post-Operative Course Post-Operative Course was uneventful. Patient was Organic sex depends on Chromosomal Sex, Gonadal referred to NORI Hospital for further treatment (Chemo sex & Phenotypic sex / Radiotherapy). The Blood Group of the patient and all his children was Male done which was “O” positive. XY, Gonad-Testes, Mullerian regression factor. DNA testing and karyotyping was not done because of Testosterone is responsible for development of psychosocial issues. Wollfian duct, while DHT for development of External genetalia HISTOPATHOLOGY 2 specimens were sent for histopathology. Female Specimen1was tumour & specimen 2 was of left XX, female because of presence of Ovary, Absence of testis and uterus. Specimen 1: was reported as Testes, No testosterone to develop Wollfian duct. classical seminoma. Specimen 2: Left testis showing Absent Mullerian regression factor results in atrophy. Nodes showing metastatic seminoma with a persistence of Mullerian duct structure. triangular cavity in front of this mass. DISCUSSION Intersex KEY ISSUES: were Disparity between chromosomal, gonadal and 1) Presence of Uterus with fallopian tubes and phenotypic sex. blind ended vagina. 2) Seminoma Testis in Right Undescended Summary in our case, Phenotypic male with well Testis. developed phallus and other secondary sexual 3) Fertility issues in Patients with Bilateral character. But gonads were bilaterally impalpable. Cryptorchidism. Intra- abdominal testes. Lt testis normal & Classical seminoma in right testis (Gonadal sex-male).

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Presence of female internal organs. What is the families1. possibility? Epidemiology and other outcome studies Presented at In Male Pseudohermaphrodite, Gonad could both be the Society for Fetal Urology Biannual Meeting, San testes/ovary. Chromosomal and gonadal sex-male but Francisco, California, May 7, 2004. external genitalia-female. Impaired synthesis, secretion, conversion or action of Paternity rates among formerly cryptorchid and testosterone. Impaired synthesis, secretion, or failure control men are shown in Table2 to respond to mullerian regression factor. Female genital duct in otherwise normal male. This is one Giltay et al. describe an unusual case of true possibility hermaphroditism—that is, the presence of both ovaries and testes in a single individual. The boy's Female Pseudohermaphrodite somatic tissues are likewise a mixture of Chromosomal and gonadal sex-female but external karyotypically normal male and normal female cells3. genitalia-male. Classical example congenital adrenal hyperplasia. Our case does not fit into this category. Zayed F et al reported A male phenotype (XY) hermaphrodite treated for seminoma, fathered a Defect in chromosomal / gonadal sex healthy child by IVF–ICSI technique4. It is generally Mixed gonadal dysgenesis is common cause of known that almost all hermaphrodites are infertile, intersex. Phenotype female or male. however, German et al. observed spermatogenesis in an hermaphrodite5. Furthermore, in abstract, both Testes are located intra-abdominally. Uterus,vagina Inatomi et al. and Manba et al. have reported the and at least one fallopian tube invariably present. High delivery of infants fathered by a true hermaphrodite incidence of tumour development in gonad. Karyotype under natural conditions in Japan6. 45x/46xy but always chromatin negative. This is another possibility. A 38years old paient was seen in 2001 by urologist for infertility and impalpable in the right side of the Cryptorchidism pelvis3456789. He had laparotomy, and right sided Cryptorchidism is the most common genital problem orchidectomy of a right testicular seminoma which encountered in pediatrics. Cryptorchidism literally was excised in addition to what appeared as a uterus means hidden or obscure testis and generally refers to and tubes in 2001. This patient getting treated and an undescended or maldescended testis. Overall, 3% cured from seminoma, the couple had in vitro of full-term male newborns have cryptorchidism, fertilization (IVF) and intracytoplasmic sperm injection decreasing to 1% in male infants aged 6 months to 1 (ICSI) using frozen testicular sperm and had a healthy year. The prevalence of cryptorchidism is 30% in baby7. premature male neonates. Factors that Predispose to cryptorchidism include prematurity, low birth weight, A successful pregnancy outcome using frozen small size for gestational age, twinning, and maternal testicular sperm from a chimeric infertile male with a exposure to estrogen during the first trimester. A recent 46, XX/46, XY karyotype was reported in 2005 by study found that almost 23% of index patients with Sugawara et al8. A successful second delivery undescended testes had a positive family history of outcome using refrozen thawed testicular sperm from cryptorchidism, as opposed to 7.5% in control an infertile male true hermaphrodite with a 46, XX/46,

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XY karyotype: was reported Sugawara et al in 20129. seminoma in 29% of cases, embryonal tumors in 33% and teratocarcinoma in 35%16. Regarding incidence of Testicular Tumors in Patients with Cryptorchidism, Campbell-Walsh Urology, 9th Conclusions (Learning Points) edition states, “It is a well established fact that  Never forget to examine genitalia during children born with undescended testes are at abdominal examination. increased risk for malignancy. The recurrence rate is  Bilateral cryptorchidism does not mean approximately 40 times greater.”10. In Adult and infertility. Pediatric Urology it is stated that “The combined risk  Even hermaphrodites can become parents. for all cryptorchid males, irrespective of the location  Seminoma is the most common tumor in un- of the testes, has been calculated at 20 to 46 times descended testis. greater than for patients with normally located Copyright© 15 Oct, 2013. testes”11. In Pediatric Urology, WB Saunders Co, Philadelphia (2001) chapt 46. it is stated that REFERENCES “Individuals born with an undescended testis have 1. Peter A. Lee, Fertility after cryptorchidism: approximately a 40-fold incidence of testicular Epidemiology and other outcome studies. Urology malignancy over those born with scrotal testes12. Volume 66, Issue 2, August 2005, Pages 427-431. Gehring et al reported a similar pattern with a 46%, 2. Paternity rates among formerly cryptorchid and 21% and 32% rate of seminoma, embryonal tumors control men. Presented at the Society for Fetal and teratocarcinoma, respectively, in testicles that Urology Biannual Meeting, San Francisco, California, underwent malignant degeneration following May 7, 2004. Peter A. Lee Received 11 August 2004; orchiopexy13. These values compare with an 89% accepted 11 January 2005. Urology (Official Journal of the socite internationale D Urologie August 2005. predominance of seminoma in patients who had uncorrected cryptorchidism and later had testicular 3. Giltay JC. , Brunt T , Beemer FA. , Wit J-M , Ploos HK, 14 cancer . Amstel v, Pearson PL. Wijmenga C, Polymorphic Detection of a Parthenogenetic Maternal and Batata et al reported that when comparing Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite. American Journal of human pathological types between cases with and without genetics (AJHJ) Volume 62, Issue 4, April 1998, orchiopexy or hormonal treatment, a predominance Pages 937–940. of seminoma was observed in uncorrected cases (30 of 42 or 71.4%)15. However, in corrected cases 4. Zayed F, Ghalayini I, Matalka I. A male phenotype the distribution of tumor type was remarkably similar (XY) hermaphrodite treated for seminoma, fathered a healthy child by IVF–ICSI technique. J to that in the series by Johnson et al, including Assist Reprod Genet. 2008 July; 25(7): 345–348.

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5. German et al. Spermatogenesis in an 11. Adult and Pediatric Urology “The combined risk for hermaphrodite. J Assist Reprod Genet. 2008 July; all cryptorchid males, irrespective of the location of 25(7): 345–348. the testes, has been calculated at 20 to 46 times greater than for patients with normally located 6. Inatomi et al. and Manba et al. Delivery of infants testes.” fathered by a true hermaphrodite. J Assist Reprod 12. In Pediatric Urology, WB Saunders Co, Philadelphia Genet. 2008 July; 25(7): 345–348. (2001) chapt 46.“ Individuals born with an 7. Rosenbusch BE-Mechanisms giving rise to triploid undescended testis have approximately a 40-fold zygotes during assisted reproduction Fertility and incidence of testicular malignancy over those born sterility, 2008 J Assist Reprod Genet. 2008 July; with scrotal testes.” 25(7): 345–348. 13. Gehring et al Cryptorchidism and Testicular 8. Sugawara N, Tokunaga Y, Maeda M, Komaba R. A Cancer: Separating Fact From Fiction. The Journal successful pregnancy outcome using frozen of Urology Volume 181, Issue 2, February 2009 testicular sperm from a chimeric infertile male with Review Article. a 46, XX/46, XY karyotype: case report. Human cell …, 2005 – ESHRE 14. Wood HM, Elder JS. Cryptorchidism and testicular cancer: The Journal of urology, 2009 - Elsevier. 9. Sugawara N, Kimura Y, ArakiY. A successful second delivery outcome using refrozen thawed testicular 15. Batata et al. Pathological types between cases with sperm from an infertile male true hermaphrodite and without orchiopexy. The Journal of Urology, with a 46, XX/46, XY karyotype: case report. Human Volume 181, Issue 2, February 2009, Pages 452- Cell December 2012, Volume 25, Issue 4, pp 96-99. 461.

10. Campbell-Walsh Urology, 9th edition states, 16. Johnny S. Younisa, Orit Radina, Hedviga Kernerb, c, “Children born with undescended testes are at Moshe Ben-Amia, b Successful monozygotic twin increased risk for malignancy”. pregnancy fathered by a male 46,XY true hermaphrodite. Reproductive Biomedicine Online. Volume 22. Issue 1, January 2011, Pages 80-82.

AUTHOR(S): 4. Kamran Faisal Bhopal 1. PROF. FAISAL G. BHOPAL, F.R.C.S 4th, Year Medical Student, Professor of Surgery, Quaid-e-Azam Medical College, Bhawalpur. Head of Department of Surgery, MBBS Medical College, Mipur, AK. Correspondence Address: 2. DR. FARYAL AZHAR Prof. Dr. Faisal G. Bhopal. (F.C.P.S.,M.R.C.S.) Professor of Surgery Senior Registrar Surgery House #14-A, Street #31, District Headquarters Hospital, Rawalpindi. F-8/1, Islamabad. 3. SADAF FAISAL BHOPAL [email protected] Article received on: 30/09/2013 4th, Year Medical Student, Accepted for Publication: 15/10/2013 Received after proof reading: 03/12/2013 Wah Medical College, Wah Cantt

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