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Testicular dysgenesis with the neoplastic lesion in an intersexual man: observation and clinical procedures from neonatal period to 29 year of life
Article published in Urologia Polska 2005/58/2.

authors

Jolanta Słowikowska-Hilczer 1, Maria Szarras-Czapnik 2, Marek Sosnowski 3, Elżbieta Oszukowska 1, Jan Karol Wolski 4, Tomasz Romer 2, Krzysztof Kula 1
1 Katedra Andrologii i Endokrynologii Płodności, Uniwersytet Medyczny w Łodzi
Kierownik katedry: prof. dr hab. Krzysztof Kula
2 Klinika Pediatrii, Oddział Endokrynologii, Instytut ?Pomnik - Centrum Zdrowia Dziecka? w Warszawie
Kierownik kliniki: doc dr hab. Janusz Książyk
3 Klinika Urologii i Rehabilitacji Urologicznej, Uniwersytet Medyczny w Łodzi
Kierownik kliniki: prof. dr hab. Marek Sosnowski
4 Klinika Urologii CMKP w Warszawie
Kierownik kliniki: prof. dr hab. Andrzej Borówka

keywords

gonadal dysgenesis, intratubular testicular carcinoma, hypogonadism, radiotherapy, hormonal substitution

summary

In a newborn child with ambiguous genitalia and gonads located in the minor abdomen cavity 45, X/46, XY karyotype was found. He was reared as a man. When the patient was 10-year-old one smaller gonad was removed. Histopathological examination revealed testicular structure with the presence of Sertoli cells and abnormal germ cells considered as gonocytes or CIS cells, but CIS was not diagnosed because of the lack of the specific antigen placental-like alkaline phosphatase (PLAP). Puberty started and progressed in time with normal hormone levels in the blood (testosterone 12.6 nmol/l; LH 3.4 IU/l). However, selectively increased blood level of FSH (26.0 IU/l) indicated the lesion of the seminal tubules function. At the age of 25 years the biopsy of the preserved testis was performed. Abnormal germ cells were positive for PLAP and CIS was diagnosed. The patient received a course of irradiation on the testis. In the biopsy performed 3 years after the treatment CIS was not found, tubules contained only Sertoli cells. Blood level of testosterone decreased to 5.3 nmol/l together with the increase of gonadotropins (FSH 54.4 IU/l; LH 36.5 IU/l). Hormonal substitution with testosterone was introduced and, when terminated after 2 years, testosterone secretion recovered to the pre-radiotherapy values.
These observations show that despite preserved endocrine function dysgenetic testes of the adult man may be burden with the preinvasive germ cell cancer since childhood. Histopathological examination towards CIS guarantees early and effective treatment. After radiotherapy because of CIS testicular endocrine function may decrease, what needs hormonal substitution, but after longer time endocrine function may improve spontaneously.

references

  1. Nezelof C: Gonadal dysgenesis and agenesis: anatomical expression. Bull Assoc Anat 1991; 75; 43-45.
  2. Berkovitz GD, Seeherunvong T: Abnormalities of gonadal differentiation. Baillieres Clin Endocrinol Metab 1998; 12; 133-142.
  3. Grumbach MM, Conte FA: Disorders of sex differentiation; in Williams RH (ed): Textbook of endocrinology. Philadelphia, WB Saunders Company, 1981, pp 423-515.
  4. Rey RA, Belville C, Nihoul-Fekete C et al: Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement. J Clin Endocrinol Metab 1999; 84; 627-631.
  5. Słowikowska J: Nowotwory jądra o pochodzeniu zarodkowym. Pol Tyg Lek 1991; 27-29; 521-523.
  6. Mřller H: Clues to the aethiology of testicular germ cell tumours from descriptive epidemiology. Eur Urol 1993; 23; 8-15.
  7. Słowikowska-Hilczer J, Romer TE, Kula K: Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype. J Androl 2003; 24; 270-278.
  8. Skakkebaek NE: Possible carcinoma-in-situ of the testis. Lancet 1972; II; 516-519.
  9. Skakkebaek NE, Berthelsen JG, Giwercman A, Műller J: Carcinoma-in-situ of the testis: possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma. Int J Androl 1987; 10; 19-28.
  10. Słowikowska-Hilczer J, Kula K: Od gonocyta do raka jądra. Przegl Urol 2000; 4; 38-41.
  11. Giwercman A, Cantell L, Marks A: Placental-like alkaline phosphatase as a marker of carcinoma-in-situ of the testis. Comparison with monoclonal antibodies M2A and 43-9F. APMIS 1991; 99; 586-594.
  12. Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25: 191-218.
  13. Müller J, Ritzen EM, Ivarsson SA et al: NE: Management of males with 45, X/46, XY gonadal dysgenesis. Horm Res 1999; 52; 11-14.
  14. Sarafoglou K, Ostrer H: Familial sex reversal: A review. J Clin Endocr Metab 2000; 2; 483-493.
  15. Rajpert-De Meyts E, Kvist M, Skakkebaek N: Heterogeneity of expression of immunohistochemical tumour markers in testicular carcinoma in situ: pathogenetic relevance. Virchows Arch 1996; 428; 133-139.
  16. Słowikowska-Hilczer J: Nuclear DNA content and proliferative potential of human gonocytes in the testes of intersex children. Folia Histochem et Cytobiol 2001; 39; 2; 167-168.
  17. Jörgensen N, Giwercman A, Müller J, Skakkebaek NE: Immunohistochemical markers of carcinoma in situ of the testis also expressed in normal infantile germ cells. Histopathology 1993; 22; 373-378.
  18. Von der Maase H, Rorth M, Walbom-Jorgensen S: Carcinoma in situ of the contralateral testis in patients with testicular germ cell cancer: study of 27 cases in 500 patients. Br Med J 1986; 293; 1398-1401.
  19. Sosnowski M, Salagierski M, Kula K: Bilateral germinal testicular tumors; w: Kula K, Słowikowska-Hilczer J (red) Hormonal control of spermatogenesis: basic and clinical aspects; Endokrynol Pol 1997; 123.
  20. Słowikowska-Hilczer J, Walczak-Jędrzejowska R, Kula K: Immunohistochemical diagnostics of preinvasive testicular carcinoma. Folia Histochem et Cytobiol 2001; 39; 2; 67-72.
  21. Giwercman A, Von der Maase H, Skakkebaek NE: Epidemiological and clinical aspects of carcinoma in situ of the testis. Eur Urol 1993; 23; 104-115.
  22. Harland SJ, Cook PA, Fossa SD et al: Intratubular germ cell neoplasia of the contralateral testis in testicular cancer. Defining a high risk group. J Urol 1998; 160; 1353-1357.
  23. Sosnowski M, Kula K: Rozpoznawanie i leczenie carcinoma in situ w jądrze przeciwległym przy jednostronnym zarodkowym nowotworze gonady męskiej. Urol Pol 1997; 50; 9-16.
  24. Słowikowska-Hilczer J, Szarras-Czapnik M, Kula K: Testicular pathology in 46, XY dysgenetic male pseudohermaphroditism. An approach to pathogenesis of testis cancer. J Androl 2001; 5; 781-791.

correspondence

Jolanta Słowikowska-Hilczer
Katedra Andrologii i Endokrynologii Płodności
Uniwersytet Medyczny w Łodzi
ul. Sterlinga 5
91-425 Łódź
tel./fax (042) 633 07 05
andjsh@csk.umed.lodz.pl