Abstract
Frasier syndrome (FS) is characterized by male pseudohermaphroditism, slowly progressing nephropathy, and frequent development of gonadoblastoma. These patients are, however, often diagnosed when evaluated for primary amenorrhea. We report the case of FS in a pre-menarchal girl at the age of 6 years. Ultrasound examinations were performed and were inconclusive as to the presence or size of the gonads. Diagnostic laparoscopy was performed and the presence of bilateral streak gonads was documented and a bilateral salpingo-oophorectomy was performed. The postoperative course was uneventful. Histological examination of the streak gonads confirmed the presence of gonadoblastoma. To our knowledge, this is the first case in the literature of a pre-menarchal patient diagnosed with FS and a laparoscopic bilateral gonadoblastoma resection. Laparoscopic aspects regarding safe streak gonad removal in the pediatric population have been elaborated.
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References
Barbaux S, Niaudet P, Gubler M-C, Grunfeld J-P, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibauld E, Fellous M, McElreavey K (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17(4):467–470
Frasier SD, Bashore RA, Mosier HD (1964) Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 64:740–745
Joki-Erkkila MM, Karikoski R, Rantala I, Lenko HL, Visakorpi T, Heinonen PK (2002) Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. J Pediatr Adolesc Gynecol 15(3):145–149
Kraggerud SM, Szymanska J, Abeler VM, Kaern J, Eknaes M, Heim S, Teixeira MR, Trope CG, Peltomaki P, Lothe RA (2000) DNA copy number changes in malignant ovarian germ cell tumors. Cancer Res 60(11):3025–3030
Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E (2005) Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet A 135(2):150–154
Reddy J, Licht J (1996) The WT1 Wilms’ tumor suppressor gene: how much do we really know? Biochem Biophys Acta 1287(1):1–28
Sailhamer E, Jackson CC, Vogel AM, Kang S, Wu Y, Chwals WJ, Zimmerman BT, Hill CB, Liu DC (2003) Minimally invasive surgery for pediatric solid neoplasms. Am Surg 69(7):566–568
Tozzi R, Kohler C, Ferrara A, Schneider A (2004) Laparoscopic treatment of early ovarian cancer: surgical and survival outcomes. Gynecol Oncol 93(1):199–203
Ulrich U, Paulus W, Schneider A, Keckstein J (2000) Laparoscopic surgery for complex ovarian masses. J Am Assoc Gynecol Laparosc 7(3):373–380
Vilos GA, Alshimmiri MM (1995) Cost–benefit analysis of laparoscopic versus laparotomy salpingo-oophorectomy for benign tubo-ovarian disease. J Am Assoc Gynecol Laparosc 2(3):299–303
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Saxena, A.K., van Tuil, C. & Schultze-Everding, A. Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. Eur J Pediatr 165, 917–919 (2006). https://doi.org/10.1007/s00431-006-0225-x
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DOI: https://doi.org/10.1007/s00431-006-0225-x