Regression of seminiferous tubules: An autopsy case of true hermaphrotism associated with gastroschisis and a case of late fetal testicular regression and review of the literature

Year 2003, Volume: 9 Issue: 3-4, 71 - 76, 01.11.2003

S. Kabukçuoğlu H. İlhan N. Tel T. Şener H. Özön

Abstract

Keywords

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Seminifer tubuluslarda maturasyonda duraklama: Otopside gastroşizis eşliğinde gerçek hermafroditizm ve geç fetal dönemde testis maturasyonunda gerileme gösteren iki olgunun sunumu ve kaynakların gözden geçirilmesi

Abstract

Giriş ve amaç: Seminifer tubuluslarda gerileme izlenen iki olgu bu patolojilerin oluşmasındaki benzerlik nedeniyle sunuldu ve ilgili kaynaklar gözden geçirildi. Gereç ve yöntem: İki olgu klinik ve histopatolojik özellikleriyle sunulmasıdır. Bulgular: Birinci olgu gebeliğin 18. haftasında gastroşizis tanımlanan olgudur. Otopside seminifer tubuluslarda gerileme olan bir testis ile bir ovaryum bulunmasıyla “gerçek hermafroditizm” tanımlanmıştır. İkinci olgu 18 aylık, sağlıklı, genetik yapısı 46 XY olan süt çocuğu olup “monoorşidizm” tanısı almıştır. Sonuç: Çok az görülen bu olgular, gerçek hermafroditizmde genetik kusurun Y kromozomunun cins belirleyen bölgesinde olmasına karşın, her iki olguda da seminifer tubulusların gerilemesine yol açan mekanizmanın “intra-arteriyel tromboz” oluşu nedeni ile sunulmuştur

Keywords

Maturasyon geriliği, intrauterin fetal arteriyel trombozis, amniotik bant sendromu, monoorşidizm, gastroşizis

References

• Hasty LA, Rock JA. True Hermaphroditism. In: Adashi EY, Rock JA, Rosenwaks Z, Eds. Reproductive Endocrinology, Surgery, and Technology. Volume I. Philadelphia: Lippincott- Raven, 1996; 977-88.
• Talerman A, Verp MS, Senekjian E, Gilewsky T, Vogelzang N. True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46, XX/ 46, XY karyotype, and a successful pregnancy. Cancer 1990; 66: 2668-72.
• Tegenkamp TR, Brazzell JW, Tegenkamp I, Labidi F. Pregnancy without benefit of reconstrictive surgery in a bisexually active true hermaphrodite. Am J Obstet Gynecol 1979; 135: 427-8.
• Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, et al. A possible common origin of “Y-negative” human XX males and XX true hermaphrodites. Hum Genet 1990; 84: 356-60.
• Berkovitz GA, Fechner PY, Marcantonio SM, Bland G, et al. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet 1992; 88: 411-416.
• Tho SPT, Layman LC, Lanclos KD, Plouffe L, et al. Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy. Am J Obstet Gynecol 1992; 167: 1794-1802.
• Smith NM, Byard RW, Bourne AJ. Testicular regression syndrome-a pathological study of 77 cases. Histopathology 1991; 19: 269-72.
• Langer JC, Khanna J, Caco C, Dykes EH, Nicolaides KH. Prenatal diagnosis of gastroschisis: Development of objective sonographic criteria for predicting outcome. Obstet Gynecol 1993; 81: 53-6.
• Lenke RR, Persutte WH, Nemes J. Ultrasonographic assesment of intestinal damage in fetuses with gastroschisis: Is it clinical value? Am J Obstet Gynecol 1990; 163: 995-8.
• Haddock G, Davis CF, Raine PAM. Gastroschisis in the decade of prenatal diagnosis: 1983-1993. Eur J Pediatr Surg 1996; 6: 18-22.
• Berta P, Hawkins JR, Sinclair AH, Taylor A, et al. Genetic evidence equating SRY and the testis-determining factor. Nature 1990; 348: 448-50.
• Coulam CB. Testicular regression syndrome. Obstet Gynecol 1979; 53: 44-9.
• Edman CD, Winters AJ, Porter JC, Wilson J, et al. Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. Obstet Gynecol 1977; 49: 208-17.
• Connors MH, Styne DM. Familial functional anorchism: A rewiew of etiology and menagement. J Urol 1985; 133: 1049-51.
• Burge DM. Neonatal testicular torsion and infarction: Aetiology and management. Br J Urol 1987; 59: 70-3.
• Alsulyman OM, Monteiro H, Ouzounian JG, Barton L, et al. Clinical significance of prenatal ultrasonographic diagnosis in fetuses with gastroschisis. Am J Obstet Gynecol 1966; 175: 982-4.
• Patterson K, Donnelly WH. The Cardiovascular System. In: Stocker JT, Dehner LP eds. Pediatric Pathology. Volume II. Philadelphia: Lippincott Williams and Wilkins, 2001, 519-630.
• Aktuğ T, Uçan B, Olguner M, Akgur FM, Özer E, et al. Amnio-allantoic fluid exchange for the prevention of intestinal damage in gastroschisis. III: Determination of the waste products removed by exchange. Eur J Pediatr Surgery 1998; 8: 326-8.
• Api A, Olguner M, Hakgüder G, Ateş O, Özer E, et al. Intestinal damage in gastroschisis correlates with the concentration of intraamniotic meconium. J Pediatr Surg 2001; 36: 1811-5.
• Hundsdoerfer P, Vetter B, Stover B, Bassir C, et al. Homozygous and double heterozygous Factor V Leiden and Factor II G20210A genotypes predispose infants to thromboembolism but are not associated with an increase of foetal loss. Thromb Haemost 2003; 90: 628-35.
• Young G, Manco-Johnson M, Gill JC, Dimichele DM, et al. Clinical manifestations of the prothrombin G20210A mutation in children: a pediatric coagulation consortium study. J Thromb Haemost 2003; 1: 958-62.
• Zarnegar R, DeFrances MC, Michalopoulos GK. Hepatocyte Growth Factor: Its Role in Hepatic Growth and Patho- biology. In: Arias IM, Boyer JL, Chisari FV, Fausto N, Schachter D, Shafritz DA, Eds. The Liver. Biology and Pathobiology. Fourth ed. London: Lippincott Williams and Wilkins, 2001; 611-629.
• Han S, Stuart LA, Degen SJ. Characterization of the DNF15S2 locus on human chromosome identification of a gene coding for four kringle domains with homology to hepatocyte growth factor. Biochemistry 1991; 30: 9768-80.