Is bilateral congenital anorchia genetically determined?

European Journal of Pediatric Surgery

Volumn 9, Issue 5, 1999, Pages 312-315

  Parigi, Gian Battista ^a,b   Bardoni, B ^a   Avoltini, V ^a   Caputo, M A ^a   Bragheri, R ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Bilateral congenital anorchia; SRY gene

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE;

ANORCHIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KARYOTYPE 46,XY; LUTEINIZING HORMONE BLOOD LEVEL; MALE; OPEN READING FRAME; TESTIS; X CHROMOSOME ABERRATION;

EID: 0032705974     PISSN: 09397248     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1072271     Document Type: Article

References (13)

1. Aynsley-Green A, Zachmann M, Illig R: Congenital bilateral anorchia in childhood: A clinical, endocrine and therapeutic evaluation of twenty-one cases. Clin Endocrinol 5 (1976) 381-391
2. Bardoni B, Zanaria E, Guioli S, Zuffardi O, Camerino C: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genetics 7 (1994) 497-501
3. Behlke MA, Bogan JS, Beer-Romero P, Page DC: Evidence that the SRY protein is encoded by a single exon on the human Y-chromosome. Genomics 17 (1993) 736-739
4. Hadziselimovic F, Herzog B: Cryptorchidism. Pediatr Surg Int 2 (1987) 132-135
5. Huff DS, Wu HY, Snyder MMCM III, Hadziselimovic F, Blythe B, Duckett JW: Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenese of testicular agenesis. J Urol 146 (1991) 630-631
6. Jäger RJ, Anvret M, Hall K, Scherer G: A human XY female with a frameshift mutation in SRY, a candidate testis determining gene. Nature 348 (1990) 452-454
7. Jeanpierre M. A rapid method for the purification of DNA from blood. Nucl Acids Res 15 (1987) 9611
8. Levitt SB, Kogan SJ, Hengel KM, Weiss RM, Martin DC, Ehrlich RM: The impalpable testis: a rational approach to management. J Urol 120 (1978) 515-518
9. Lobaccaro JM, Medlej R, Berta P, Belon C, Galifer RB, Guthmann JP, Chevalier C, Czernichow P, Dumas R, Sultan C: PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. Clin Endocrinol 38 (1993) 197-201
10. Muscatelli F, Strom TM, Walker AP, Zanaria E: Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Nature 372 (1994) 672-670
11. Rai M, Agrawal JK, Sasikumar V, Singh SK: Bilateral congenital anorchia in three siblings. Clin Pediatr Phila 33 (1994) 367-369
12. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Grifitths B, Smith M, Foster J, Frishauf AM, Lovell-Badge R, Goodfellow PN: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding modifier. Nature 346 (1990) 240-244
13. Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am J Hum Genet 50 (1992) 1008-1011