CASE REPORT PROF-2366 TESTICULAR TUMOR IN A ......Ultrasound abdomen and pelvis: Large fibrous mass in right side of pelvis 10x9 cm pushing urinary bladder up. MRI pelvis 20 cm sized

INTRODUCTIONCASE HISTORYA 45 years old Labourer father of 5 children from Mandi Bahauddin was admitted through out-patient department in February, 2010. Presented with painful swelling in lower abdomen for last 15 days. Swelling rapidly increased in size. It started in the RIF then involved the hypogastrium and became painful. Pain was constant dull ache, relieved somewhat after micturition. There was H/O Anorexia & Significant weight loss over 6 months. There was no H/O Bowel complaints or urinary complaints.

There was no past history of prolonged illness requiring hospitalization or investigations.

In Personal history. He was Smoker for last 20 years, smoked 1 pack per day. He was married with 5 children (4 sons 1 daughter). Youngest is 3 years old. He belonged to Lower Middle class. Family history was Insignificant.

On examination, he was Middle aged man sitting comfortably, well oriented with Pulse of 82/min, BP: 110/70 mm of Hg, Temp: 98fh & R/R: 18/min.

There was no pallor, Jaundice, Clubbing, Cyanosis or Pedal oedema. JVP was normal. No Lymph nodes or Thyroid swelling were palpable.

Systemic examination was Unremarkable

Oro-dental hygiene was good.

AbdomenUmbilicus was central & inverted. There was visible bulge in Right Iliac Fossa. A palpable mass was present in hypogastrium and RIF measuring 10 x 9 cm on ultrasound abdomen and pelvis. Large fibrous mass in right side of pelvis 10x9 cm pushing urinary bladder up. It was tender, hard, partly mobile, upper limit was reachable but lower limit was not. Liver and spleen were not palpable. On digital rectal examination, a hard extra-rectal mass was palpable anteriorly, about 7 cm from anal verge. Scrotum was not developed. Testes were not palpable in scrotum or groin bilaterally. His phallus was normally developed with external urinary meatus at the tip. There was normal distribution of the pubic hair and other secondary sexual characters were present.Respiratory and Cardiovascular system were unremarkable.

PROVISIONAL DIAGNOSIS of Bilateral undescended testes with Lower Abdominal Mass (? Testicular Tumor) was made.

INVESTIGATIONSFBC: Hb 13.4 g/dl, TLC 9100 /cumm, Platelets 230000 /cumm ESR: 29, Neutrophils 77%, Lymphocytes 12%, Monocytes 6%, LFTs : Bilirubin : 0.8 mg/dl, ALT: 19,

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

TESTICULAR TUMOR IN A CRYPTORCHID HERMAPHRODITE;A CASE REPORT

CASE REPORT PROF-2366

Professional Med J 2013;20(6): 1058-1064. 1058www.theprofesional.com

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.

Article Citation

PT: 15/13, APTT: 31/30, BSR: 135 mg/dl,RFTs : Urea: 33 mg/dl. Alpha Feto Protein: 4.19 ng/ml (Normal value upto 8.4)B-HCG: 15.6 mIU/ml (Normal value <5), S. LDH: 925 U/L (Normal value < 480)

Semen AnalysisAzoospermiaUltrasound abdomen and pelvis: Large fibrous mass in right side of pelvis 10x9 cm pushing urinary bladder up.

MRI pelvis20 cm sized mass in the pelvis extending into the lower abdomen with well defined borders. Uterine cavity rudimentary vagina can be appriciated.

Conclusion Tumour arising from right undescended testis. Lymph nodes behind the uterus forming a mass, pushing the urinary bladder forward.

Diagnosis of testicular tumour with bilateral cryptorchidism was made.

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TESTICULAR TUMOR IN A CRYPTORCHID HERMAPHRODITE

OPERATIVE FINDINGSA 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 PROCEDURERight testicular tumour mass was resected. Uterus with fallopian tubes, left testis and blind ended vagina were resected en-block with lymph nodes except a rim

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

Left Normal Testis

Resected specimen Showing, Uterus with both fallopian tubes, LN mass behind uterus, left testis at the end of left fallopian

tube & right testicular tumour.

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of tissue which was engulfing iliac blood vessels.

Post-Operative CoursePost-Operative Course was uneventful. Patient was referred to NORI Hospital for further treatment (Chemo / Radiotherapy).The Blood Group of the patient and all his children was done which was “O” positive.DNA testing and karyotyping was not done because of psychosocial issues.

HISTOPATHOLOGY2 specimens were sent for histopathology. Specimen1was tumour & specimen 2 was of left testis and uterus. Specimen 1: was reported as classical seminoma. Specimen 2: Left testis showing atrophy. Nodes showing metastatic seminoma with a triangular cavity in front of this mass.DISCUSSIONKEY ISSUES: were 1) Presence of Uterus with fallopian tubes and blind ended vagina. 2) Seminoma Testis in Right Undescended Testis. 3) Fertility issues in Patients with Bilateral Cryptorchidism.

Sexual differentiation is on the basis of Psychological Sex and Organic sex

Organic sex depends on Chromosomal Sex, Gonadal sex & Phenotypic sex

MaleXY, Gonad-Testes, Mullerian regression factor. Testosterone is responsible for development of Wollfian duct, while DHT for development of External genetalia

FemaleXX, female because of presence of Ovary, Absence of Testes, No testosterone to develop Wollfian duct. Absent Mullerian regression factor results in persistence of Mullerian duct structure.

IntersexDisparity between chromosomal, gonadal and phenotypic sex.

Summary in our case, Phenotypic male with well developed phallus and other secondary sexual character. But gonads were bilaterally impalpable. Intra- abdominal testes. Lt testis normal & Classical seminoma in right testis (Gonadal sex-male).


Right testicular tumour Cut section.Resected specimen Showing, Uterus & both fallopian

tubes opened, LN mass behind uterus, left testis at the end of left fallopian tube. right testicular tumour.

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Presence of female internal organs. What is the possibility?

In Male Pseudohermaphrodite, Gonad could both be testes/ovary. Chromosomal and gonadal sex-male but external genitalia-female.Impaired synthesis, secretion, conversion or action of testosterone. Impaired synthesis, secretion, or failure to respond to mullerian regression factor. Female genital duct in otherwise normal male. This is one possibility

Female PseudohermaphroditeChromosomal and gonadal sex-female but external genitalia-male. Classical example congenital adrenal hyperplasia. Our case does not fit into this category.

Defect in chromosomal / gonadal sexMixed gonadal dysgenesis is common cause of intersex. Phenotype female or male.

Testes are located intra-abdominally. Uterus,vagina and at least one fallopian tube invariably present. High incidence of tumour development in gonad. Karyotype 45x/46xy but always chromatin negative. This is another possibility.

CryptorchidismCryptorchidism is the most common genital problem encountered in pediatrics. Cryptorchidism literally means hidden or obscure testis and generally refers to an undescended or maldescended testis. Overall, 3% of full-term male newborns have cryptorchidism, decreasing to 1% in male infants aged 6 months to 1 year. The prevalence of cryptorchidism is 30% in premature male neonates. Factors that Predispose to cryptorchidism include prematurity, low birth weight, small size for gestational age, twinning, and maternal exposure to estrogen during the first trimester. A recent study found that almost 23% of index patients with undescended testes had a positive family history of cryptorchidism, as opposed to 7.5% in control

1families .

Epidemiology and other outcome studies Presented at the Society for Fetal Urology Biannual Meeting, San Francisco, California, May 7, 2004.

Paternity rates among formerly cryptorchid and 2

control men are shown in Table

Giltay et al. describe an unusual case of true hermaphroditism—that is, the presence of both ovaries and testes in a single individual. The boy's somatic tissues are likewise a mixture of

3karyotypically normal male and normal female cells .

Zayed F et al reported A male phenotype (XY) hermaphrodite treated for seminoma, fathered a

4healthy child by IVF–ICSI technique . It is generally known that almost all hermaphrodites are infertile, however, German et al. observed spermatogenesis in

5an hermaphrodite . Furthermore, in abstract, both Inatomi et al. and Manba et al. have reported the delivery of infants fathered by a true hermaphrodite

6under natural conditions in Japan .

A 38years old paient was seen in 2001 by urologist for infertility and impalpable in the right side of the pelvis3456789. He had laparotomy, and right sided orchidectomy of a right testicular seminoma which was excised in addition to what appeared as a uterus and tubes in 2001. This patient getting treated and cured from seminoma, the couple had in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) using frozen testicular sperm and had a healthy

7baby .

A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46, XX/46, XY karyotype was reported in 2005 by

8Sugawara et al . A successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46, XX/46,


6


9XY karyotype: was reported Sugawara et al in 2012 .

Regarding incidence of Testicular Tumors in Patients with Cryptorchidism, Campbell-Walsh Urology, 9th edition states, “It is a well established fact that children born with undescended testes are at increased risk for malignancy. The recurrence rate is

10approximately 40 times greater.” . In Adult and Pediatric Urology it is stated that “The combined risk for all cryptorchid males, irrespective of the location of the testes, has been calculated at 20 to 46 times greater than for patients with normally located

11testes” . In Pediatric Urology, WB Saunders Co, Philadelphia (2001) chapt 46. it is stated that “Individuals born with an undescended testis have approximately a 40-fold incidence of testicular

12malignancy over those born with scrotal testes . Gehring et al reported a similar pattern with a 46%, 21% and 32% rate of seminoma, embryonal tumors and teratocarcinoma, respectively, in testicles that underwent malignant degeneration following

13orchiopexy . These values compare with an 89% predominance of seminoma in patients who had uncorrected cryptorchidism and later had testicular

14cancer .

Batata et al reported that when comparing pathological types between cases with and without orchiopexy or hormonal treatment, a predominance of seminoma was observed in uncorrected cases

15(30 of 42 or 71.4%) . However, in corrected cases the distribution of tumor type was remarkably similar to that in the series by Johnson et al, including

seminoma in 29% of cases, embryonal tumors in 16

33% and teratocarcinoma in 35% .

Conclusions (Learning Points) Never forget to examine genitalia during

abdominal examination. Bilateral cryptorchidism does not mean

infertility. Even hermaphrodites can become parents. Seminoma is the most common tumor in un-

descended testis.Copyright© 15 Oct, 2013.

REFERENCES1. Peter A. Lee, Fertility after cryptorchidism:

Epidemiology and other outcome studies. Urology Volume 66, Issue 2, August 2005, Pages 427-431.

2. Paternity rates among formerly cryptorchid and control men. Presented at the Society for Fetal Urology Biannual Meeting, San Francisco, California, May 7, 2004. Peter A. Lee Received 11 August 2004; accepted 11 January 2005. Urology (Official Journal of the socite internationale D Urologie August 2005.

3. Giltay JC. , Brunt T , Beemer FA. , Wit J-M , Ploos HK, Amstel v, Pearson PL. Wijmenga C, Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite. American Journal of human genetics (AJHJ) Volume 62, Issue 4, April 1998, Pages 937–940.

4. Zayed F, Ghalayini I, Matalka I. A male phenotype (XY) hermaphrodite treated for seminoma, fathered a healthy child by IVF–ICSI technique. J Assist Reprod Genet. 2008 July; 25(7): 345–348.


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5. German e t a l . Spermatogenesis in an hermaphrodite. J Assist Reprod Genet. 2008 July; 25(7): 345–348.

6. Inatomi et al. and Manba et al. Delivery of infants fathered by a true hermaphrodite. J Assist Reprod Genet. 2008 July; 25(7): 345–348.

7. Rosenbusch BE-Mechanisms giving rise to triploid zygotes during assisted reproduction Fertility and sterility, 2008 J Assist Reprod Genet. 2008 July; 25(7): 345–348.

8. Sugawara N, Tokunaga Y, Maeda M, Komaba R. A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46, XX/46, XY karyotype: case report. Human cell …, 2005 – ESHRE

9. Sugawara N, Kimura Y, ArakiY. A successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46, XX/46, XY karyotype: case report. Human Cell December 2012, Volume 25, Issue 4, pp 96-99.

10. Campbell-Walsh Urology, 9th edition states, “Children born with undescended testes are at increased risk for malignancy”.

11. Adult and Pediatric Urology “The combined risk for all cryptorchid males, irrespective of the location of the testes, has been calculated at 20 to 46 times greater than for patients with normally located testes.”

12. In Pediatric Urology, WB Saunders Co, Philadelphia (2001) chapt 46.“ Individuals born with an undescended testis have approximately a 40-fold incidence of testicular malignancy over those born with scrotal testes.”

13. Gehring et al Cryptorchidism and Testicular Cancer: Separating Fact From Fiction. The Journal of Urology Volume 181, Issue 2, February 2009 Review Article.

14. Wood HM, Elder JS. Cryptorchidism and testicular cancer: The Journal of urology, 2009 - Elsevier.

15. Batata et al. Pathological types between cases with and without orchiopexy. The Journal of Urology, Volume 181, Issue 2, February 2009, Pages 452-461.

16. Johnny S. Younisa, Orit Radina, Hedviga Kernerb, c, Moshe Ben-Amia, b Successful monozygotic twin pregnancy fathered by a male 46,XY true hermaphrodite. Reproductive Biomedicine Online. Volume 22. Issue 1, January 2011, Pages 80-82.


AUTHOR(S):1. PROF. FAISAL G. BHOPAL, F.R.C.S Professor of Surgery, Head of Department of Surgery, MBBS Medical College, Mipur, AK.2. DR. FARYAL AZHAR (F.C.P.S.,M.R.C.S.) Senior Registrar Surgery District Headquarters Hospital, Rawalpindi.3. SADAF FAISAL BHOPAL 4th, Year Medical Student, Wah Medical College, Wah Cantt

4. Kamran Faisal Bhopal 4th, Year Medical Student, Quaid-e-Azam Medical College, Bhawalpur.

Correspondence Address:Prof. Dr. Faisal G. Bhopal.Professor of SurgeryHouse #14-A, Street #31,F-8/1, [email protected] Article received on:

Accepted for Publication: Received after proof reading:

30/09/201315/10/201303/12/2013

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CASE REPORT PROF-2366 TESTICULAR TUMOR IN A ......Ultrasound abdomen and pelvis: Large fibrous mass in right side of pelvis 10x9 cm pushing urinary bladder up. MRI pelvis 20 cm sized