Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: Two years' treatment with anastrozole and genetic study

Hormone Research in Paediatrics

Volumn 75, Issue 5, 2011, Pages 374-379

  Grandone, Anna ^a   Miraglia Del Giudice, Emanuele ^a   Cirillo, Grazia ^a   Santarpia, Michele ^a   Coppola, Filomena ^a   Perrone, Laura ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Anastrozole; Peutz Jeghers syndrome; Prepubertal gynecomastia

Indexed keywords

ANASTROZOLE; AROMATASE; ENZYME; ESTROGEN; TUMOR SUPPRESSOR PROTEIN; TUMOR SUPPRESSOR PROTEIN LKB1 STK11; UNCLASSIFIED DRUG;

ABSENCE OF SIDE EFFECTS; ARTICLE; BIOSYNTHESIS; BONE AGE; BONE GROWTH; CASE REPORT; CHILD; ESTROGEN ACTIVITY; ESTROGEN SYNTHESIS; GENETIC ANALYSIS; GENOTYPE; GYNECOMASTIA; HUMAN; MALE; MONOZYGOTIC TWINS; MUTATION; ORCHIECTOMY; PEUTZ JEGHERS SYNDROME; POLYP; PREPUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SERTOLI CELL; SERTOLI CELL TUMOR; TUMOR SUPPRESSOR GENE;

AROMATASE INHIBITORS; CHILD; DISEASES IN TWINS; GENETICS; GYNECOMASTIA; HUMANS; MALE; NITRILES; PEUTZ-JEGHERS SYNDROME; PUBERTY; SEQUENCE ANALYSIS, DNA; TIME FACTORS; TRIAZOLES; TWINS, MONOZYGOTIC;

EID: 79955703618     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000324178     Document Type: Article

References (28)

1. Jeghers H, McKusick J, Katz KH: Generalized intestinal polyposis and melanin spots on oral mucosa, lips and digits: syndrome of diagnostic significance. N Engl J Med 1949; 241: 1031-1036.
2. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD: Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987; 316: 1511-1514. (Pubitemid 17076235)
3. Mehenni H, Resta N, Guanti G, Mota-Vieira L, Lerner A, Peyman M, et al: Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci 2007; 52: 1924-1933. (Pubitemid 47024661)
4. Cantu JM, Rivera H, Ocampo-Campos R, Bedolla N, Cortes-Gallegos V, Gonzalez- Mendoza A, Diaz M, Hernandez A: Peutz- Jeghers syndrome with feminizing Sertoli cell tumor. Cancer 1980; 46: 223-228. (Pubitemid 10080463)
5. Kara C, Kutlu AO, Tosun MS, Apaydin S, Senel F: Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone. Horm Res 2005; 63: 252-256. (Pubitemid 41022617)
6. Lefevre H, Bouvattier C, Lahlou N, Adamsbaum C, Bougnères P, Carel JC: Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor. Eur J Endocrinol 2006; 154: 221-227.
7. Ulbright TM, Amin MB, Young RH: Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome. Am J Surg Pathol 2007; 31: 827-835. (Pubitemid 47165135)
8. Coen P, Kulin H, Ballantine T, Zaino R, Frauenhoffer E, Boal D, Inkster S, Brodie A, Santen R: An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med 1991; 324: 317-322.
9. Young S, Gooneratne S, Straus FH 2nd, Zeller WP, Bulun SE, Rosenthal IM: Feminizing Sertoli cell tumors in boys with Peutz- Jeghers syndrome. Am J Surg Pathol 1995; 19: 50-58.
10. Bulun SE, Rosenthal IM, Brodie AM, Inkster SE, Zeller WP, DiGeorge AM, Frasier SD, Kilgore MW, Simpson ER: Use of tissue-specific promoters in the regulation of aromatase cytochrome P450 gene expression in human testicular and ovarian sex cord tumors, as well as in normal fetal and adult gonads. J Clin Endocrinol Metab 1993; 77: 1616-1621. (Pubitemid 24000923)
11. Miller WR, Mullen P, Sourdaine P, Watson C, Dixon JM, Telford J: Regulation of aromatase activity within the breast. J Steroid Biochem Mol Biol 1997; 61: 193-202. (Pubitemid 27455678)
12. Niewenhuis JC, Wolf MC, Kass EJ: Bilateral asynchronous Sertoli cell tumor in a boy with the Peutz-Jeghers syndrome. J Urol 1994; 152: 1246-1248. (Pubitemid 24283490)
13. Hertl MC, Wiebel J, Schafer H, Willig HP, Lambrecht W: Feminizing Sertoli cell tumors associated with Peutz-Jeghers syndrome: an increasingly recognized cause of prepubertal gynecomastia. Plast Reconstr Surg 1998; 102: 1151-1157. (Pubitemid 28414645)
14. Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG: Testicular tumors with Peutz-Jeghers syndrome. Cancer 1986; 57: 2238-2240. (Pubitemid 16121764)
15. Dubois RS, Hoffman WH, Krishnan TH, Rising JA, Tolia VK, Sy DA, Chang CH: Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. J Pediatr 1982; 101: 568-571. (Pubitemid 12028524)
16. Ros P, Nistal M, Alonso M, Calvo de Mora J, Yturriaga R, Barrio R: Sertoli cell tumour in a boy with Peutz-Jeghers syndrome. Histopathology 1999; 34: 84-86. (Pubitemid 29049085)
17. Bergada I, Del Toro K, Katz O, Chemes H, Campo S: Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. J Pediatr Endocrinol Metab 2000; 13: 101-103. (Pubitemid 30055635)
18. Ceccamea A, Cozzi F, Farragiana T, Boscherini B, Pierro A: Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome (histologic and ultrastructural study). Tumori 1985; 71: 379-385.
19. Venara M, Rey R, Bergada I, Mendilaharzu H, Campo S, Chemes H: Sertoli cell proliferations of the infantile testis: an intratubular form of Sertoli cell tumor? Am J Surg Pathol 2001; 25: 1237-1244. (Pubitemid 32917116)
20. Chang B, Borer JG, Tan PE, Diamond DA: Large-cell calcifying Sertoli cell tumor of the testis: case report and review of the literature. Urology 1998; 52: 520-522, discussion 522-523.
21. Weitzner S, Gropp A: Sertoli cell tumor of testis in childhood. Am J Dis Child 1974; 128: 541-543.
22. Saraco N, Berensztein E, Sciara M, de Davila MT, Ciaccio M, Ferrari P, Belgorosky A, Rivarola MA: High TGFbeta1, estrogen receptor, and aromatase gene expression in a large cell calcifying sertoli cell tumor (LCCSCT): implications for the mechanism of oncogenesis. Pediatr Dev Pathol 2006; 9: 181-189. (Pubitemid 44140382)
23. Alikasifoglu A, Gonc EN, Akcoren Z, Kale G, Ciftci AO, Senocak ME, Yordam N: Feminizing Sertoli cell tumor associated with Peutz- Jeghers syndrome. J Pediatr Endocrinol Metab 2002; 15: 449-452. (Pubitemid 34704812)
24. Dreyer L, Jacyk WK, du Plessis DJ: Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz-Jeghers syndrome: a case report. Pediatr Dermatol 1994; 11: 335-337.
25. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, et al: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998; 18: 38-43. (Pubitemid 28027876)
26. Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM, de Rooji W, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA: LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet 2006; 43:e18.
27. Czajka-Oraniec I, Zgliczynski W, Kurylowicz A, Mikula M, Ostrowski J: Association between gynecomastia and aromatase (CYP19) polymorphisms. Eur J Endocrinol 2008; 158: 721-727. (Pubitemid 351639611)
28. Hero M, Toiviainen-Salo S, Wickman S, Mäkitie O, Dunkel L: Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. J Bone Miner Res 2010; 25: 1536-1543.