Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis

Prenatal Diagnosis

Volumn 23, Issue 9, 2003, Pages 716-721

  Mazza, V ^a   Ottolenghi, C ^b   Di Monte, I ^a   Baldassari, F ^a   Rivasi, F ^a   Volpe, A ^a   Forabosco, A ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b Universita degli Studi di Modena ^*

Author keywords

Fetal gender; Prenatal diagnosis; Recurrence; Sonography; XY partial gonadal dysgenesis

Indexed keywords

AMNION FLUID; ARTICLE; BIPARIETAL DISTANCE; CASE REPORT; CLINICAL FEATURE; EARLY DIAGNOSIS; ECHOGRAPHY; FEMALE; FETUS; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC RISK; GONADAL DYSGENESIS; HEREDITY; HUMAN; KARYOTYPE; MALE; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT DISEASE; SEMINIFEROUS TUBULE; SEXUAL DEVELOPMENT;

ABORTION, INDUCED; ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC COUNSELING; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; MALE; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 0141857554     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.673     Document Type: Article

References (39)

1. Acquafredda A, Vassal J, Job JC. 1987. Rudimentary testes syndrome revisited. Pediatrics 80: 209-214.
2. Ammini AC, Pandey J, Vijayaraghavan M, Sabherwal U. 1994. Human female phenotypic development: role of fetal ovaries. J Clin Endocrinol Metab 79: 604-608.
3. Bardoni B, Zanaria E, Guioli S, et al. 1994. A dosage sensitive locus at chromosome Xp 21 is involved in male to female sex reversal. Nat Genet 7: 497-501.
4. Barr ML, Carr DH, Plunkett ER, Soltan HC, Wiens RG. 1967. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol 99: 1047-1055.
5. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. 1993. Deletion 9p and sex reversal. J Med Genet 30(6): 518-520.
6. Benoit B. 1999. Early fetal gender determination. Ultrasound Obstet Gynecol 13: 299-300.
7. Berkovitz GD, Fechner PY, Zacur HW, et al. 1991. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore) 70: 375-383.
8. Berkovitz GD. 1992. Abnormalities of gonadal determination and differentiation. Semin Perinatol 16: 289-298.
9. Birnholz JC. 1983. Determination of fetal sex. N Engl J Med 309: 942-944.
10. Boczkowski K. 1976. Familial occurrence of gonadal tumors in XY females with breast development. Hum Genet 33: 289-294.
11. Calvari V, Bertini V, De Grandi A, et al. 2000. A submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
12. Cheikhelard A, Luton D, Philippe-Chomette P, et al. 2000. How accurate is the prenatal diagnosis of abnormal genitalia? J Urol 164: 984-987.
13. Chen CP, Chen SR, Wang TY, Wang W, Hwu YM. 1999. A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads. Fertil Steril 72: 170-173.
14. Efrat Z, Akinfenwa OO, Nicolaides KH. 1999. First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol 13: 305-307.
15. Espiner EA, Veale AM, Sands VE, Fitzgerald PH. 1970. Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283: 6-11.
16. Fechner PY, Marcantonio SM, Ogata T, et al. 1993. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 76: 1248-1253.
17. George FW, Wilson JD, 1994. Sex determination and differentiation. In The Physiology of Reproduction, Knobil E, Neill JD (eds). Raven Press: New York.
18. German J, Simpson JL, Chaganti RS, Summitt RL, Reid LB, Merkatz IR. 1978. Genetically determined sex-reversal in 46,XY humans. Science 202: 53-56.
19. Josso N, Briard ML. 1980. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr 97: 200-204.
20. Jost A. 1972. A new look at the mechanisms controlling sex differentiation in mammals. Johns Hopkins Med J 130: 38-53.
21. Kempe A, Engels H, Schubert R, et al. 2002. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. Gynecol Endocrinol 16: 107-111.
22. Kutteh WH, Santos-Ramos R, Ermel LD. 1995. Accuracy of ultrasonic detection of the uterus in normal newborn infants: implications for infants with ambiguous genitalia. Ultrasound Obstet Gynecol 5: 109-113.
23. Kwok C, Goodfellow PN, Hawkins JR. 1996. Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation. J Med Genet 33: 800-801.
24. Mandell J, Bromley B, Peters CA, Benacerraf BR. 1995. Prenatal sonographic detection of genital malformations. J Urol 153: 1994-1996.
25. Mann JR, Corkery JJ, Fisher HJ, et al. 1983. The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. J Med Genet 20: 264-270.
26. Mazza V, Contu G, Falcinelli C, et al. 1999. Biometrical threshold of biparietal diameter for certain fetal sex assignment by ultrasound. Ultrasound Obstet Gynecol 13: 308-311.
27. Mazza V, Di Monte I, Ceccarelli PL, et al. 2002. Prenatal diagnosis of female pseudohermaphroditism associated with bilateral luteoma of pregnancy: case report. Hum Reprod 17: 821-824.
28. Mendonca BB, Barbosa AS, Arnhold IJ, McElreavey K, Fellous M, Moreira-Filho CA. 1994. Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene. Am J Med Genet 52: 39-43.
29. Naffah J. 1989. Familial testicular regression syndrome. Bull Acad Natl Med 173: 709-714; discussion 714-715.
30. Nordenskjold A, Fricke G, Anvret M. 1995. Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 96: 102-104.
31. Ottolenghi C, Veitia R, Quintana-Murci L, et al. 2000. The region an 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. Genomics 64: 170-178.
32. Phansey SA, Satterfield R, Jorgenson RJ, et al. 1980. XY gonadal dysgenesis in three siblings. Am J Obstet Gynecol 138: 133-138.
33. Plattner G, Renner W, Went J, Beudette L, Viau G. 1983. Fetal sex determination by ultrasound scan in the second and third trimesters. Obstet Gynecol 61: 454-458.
34. Sarafoglou K, Ostrer H. 2000. Clinical review 111: familial sex reversal: a review. J Clin Endocrinol Metab 85: 483-493.
35. Stephens JD. 1984. Prenatal diagnosis of testicular feminisation. Lancet 2: 1038.
36. Stephens JD, Sherman S. 1984. Determination of fetal sex by ultrasonography. N Engl J Med 309: 984.
37. Washburn LL, Eicher EM. 1983. Sex reversal in XY caused by dominant mutation on chromosome 17. Nature 303: 338-340.
38. Waters BL, Trainer TD. 1996. Development of the human fetal testis. Pediatr Pathol Lab Med 16: 9-23.
39. Whitlow BJ, Lazanakis MS, Economides DL. 1999. The sonographic identification of fetal gender from 11 to 14 weeks of gestation. Ultrasound Obstet Gynecol 13: 301-304.