Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype

Urologia Internationalis

Volumn 61, Issue 2, 1998, Pages 111-114

  Filiadis, Ioannis F ^a,b   Syrrou, Maria B ^a   Bai, Maria C ^a   Georgiou, Ioannis A ^a   Pagoulatos, Gerasimos N ^a   Giannakopoulos, Xenophon ^a  

^a UNIVERSITY OF IOANNINA   (Greece)

^b Ioannina University School of Medicine ^*  (Greece)

Author keywords

46,XY 45,XO 47,XXY; Infertility; Klinefelter's syndrome; Mosaicism; Urogenital abnormalities; XO gonadal dysgenesis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; GONADAL DYSGENESIS; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CELL LINE; FOLLOW-UP STUDIES; GONADAL DYSGENESIS, 46,XY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY, MALE; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MIDDLE AGED; MOSAICISM; NOONAN SYNDROME; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOMES; URINARY CALCULI; UROGENITAL ABNORMALITIES; UROGRAPHY;

EID: 0032444795     PISSN: 00421138     EISSN: None     Source Type: Journal    
DOI: 10.1159/000030299     Document Type: Article

References (18)

1. Griffin JE, Wilson JD: Disorders of the sexual differentiation; in Walsh PC, Retik AB, Stamey TA, Vaughan ED (eds): Campbell's Urology, ed 6. Philadelphia, Saunders, 1992, vol 2, pp 1509-1542.
2. Therman E: Human Chromosomes. New York, Springer, 1986.
3. Schafer JA: Sex Determination and its pathology in man. Adv Genet 1995;33:275-325.
4. Schinzel A: Catalogue of unbalanced chromosome aberrations in man. Berlin, de Gruyter, 1983, pp 763-797.
5. Mittwoch ZU: Sex determination and sex reversal: Genotype, phenotype and semantics. Hum Genet 1992;89:467-490.
6. Mak V, Jarvi KA: The genetics of male infertility. J Urol 1996;156:1245-1257.
7. Bates C: Current concepts in male infertility. Eur Urol [Update Ser] 1997;6:91-96.
8. Retief AE, Van Zyl JA, Menkveld R, Fox MF, Kotze GM, Rusnicky J: Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 1984;66:162-166.
9. Johansen K, Yde H: The frequency of diabetes mellitus in patients with Turner syndrome and pure gonadal dysgenesis. Acta Endocrinol Copenh 1969;62:251-256.
10. van Campenhout J, Antaki A, Rasio E: Diabetes mellitus and thyroid autoimmunity in gonadal dysgenesis. Fertil Steril 1973;24:1-8.
11. Lippe B, Geffner ME, Dietrich RB, Boechat MI, Kangarloo H: Renal malformations in patients with Turner syndrom: Imaging in 141 patients. Pediatrics 1988;82:852-860.
12. Schulman CC, Giannakopoulos X: Renal malformations in gonadal dysgenesis. Chir Pediatr 1980;21:387-390.
13. Schellas HF: Malignant potential of the dysgenetic gonad. Part I. Obstet Gynecol 1974; 44:298-302.
14. Schellas HF: Malignant potential of the dysgenetic gonad. Part II. Obstet Gynecol 1974; 44:455-461.
15. Dexeus F, Logothetis C, Chong C, et al: Genetic abnormalities in men with germ cell tumors. J Urol 1988;140:80-83.
16. Kingsbury A, Frost F, Cookson W: Dysgerminoma, gonadoblastoma, and testicular germ cell neoplasia in phenotypically female and male siblings with 46 XY genotype. Cancer 1987;59:288-295.
17. Glazer HS, Lee JKT, Melson GL, McClennan BC: Sonographic detection of occult testicular neoplasms. Am J Radiol 1982;138:67-74.
18. Csapo Z, Bornhof C, Giedl J: Impalpable testicular tumors diagnosed by scrotal ultrasonography. Urology 1988;32:549-556.