Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

Pediatric Surgery International

Volumn 16, Issue 3, 2000, Pages 226-228

  Konrad, D ^a,c   Sossai, R ^a   Winklehner, H L ^a   Binkert, F ^b   Artan, S ^b   Scharli A F ^a  

^a CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Universitats Kinderklinik   (Switzerland)

Author keywords

Coarctation of the aorta; Hypospadias; Mixed gonadal dysgenesis; Turner syndrome

Indexed keywords

AORTA COARCTATION; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CRYPTORCHISM; DISEASE ASSOCIATION; GONADAL DYSGENESIS; HUMAN; HYPOSPADIAS; MALE; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; TESTIS BIOPSY;

EID: 0034028107     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003830050731     Document Type: Article

References (10)

1. Calzolari E, Patracchini P, Palazzi P, et al (1993) Characterization of a deleted Y chromosome in a male with Turner stigmata. Clin Genet 43: 16-22
2. Chang HJ, Clark RD, Bachman H (1990) The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46: 156-167
3. Donahou PK, Crawford JD, Hendren H (1979) Mixed gonadal dysgenesis, pathogenesis, and management. J Pediatr Surg 14: 287-300
4. Fujimoto A, Boelter WD, Sparkes RS, et al (1991) Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. Am J Med Genet 421: 239-245
5. Gotzsche CO, Krag-Olsen B, Neilsen J, et al (1994) Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 71: 433-436
6. Kaspar F, Cato AC, Denninger A, et al (1993) Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia. J Steroid Biochem Mol Biol 47: 127-135
7. Klocker H, Neuschmid-Kaspar F, Culig Z, et al (1995) Androgen receptor alterations in patients with disturbances in male sexual development and in prostatic carcinoma. Urol Int 54: 2-5
8. Knudtzon J, Aarskog D (1987) 45,X/ 46,XY mosaicism. A clinical review and report of ten cases. Eur J Pedaitr 146: 266-271
9. Müller J, Skakkebaek NE, Ritzen M, et al (1985) Carcinoma in situ of the testis in children with 45,X/46,XY gonadal dysgenesis. J Pediatr 106: 431-436
10. Numabe H, Nagafuchi S, Nakahori Y, et al (1992) DNA analyses of XX and XX-hypospadiac males. Hum Genet 90: 211-214