Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development

Sexual Development

Volumn 1, Issue 4, 2007, Pages 222-229

  Arcari, A J ^a   Bergada I ^a   Rey, R A ^a,b   Gottlieb, S ^a  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

Ambiguous genitalia; Androgen insensitivity; Gonadal dysgenesis; Hermaphroditism; Intersex; Male pseudohermaphroditism

Indexed keywords

ADRENAL HYPERPLASIA; ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; GONADAL DYSGENESIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 45,X; KARYOTYPE 46,XX; PALPATION; PHENOTYPE; PREDICTIVE VALIDITY; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEXUAL DEVELOPMENT; SEXUAL DYSFUNCTION; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; CHROMOSOMES, HUMAN, Y; FEMALE; GONADAL DYSGENESIS, 46,XX; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; OVARY; SEX DIFFERENTIATION DISORDERS; TESTIS;

EID: 34547740536     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000104772     Document Type: Article

References (29)

1. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, et al: Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 85:658-665 (2000).
2. Bergadá C, Cleveland WW: Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: relation to theories of sex differentiation. Acta Endocrinol (Copenh) 40:493-520 (1962).
3. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, et al: Genetic evidence equating SRY and the testis-determining factor. Nature 348:448-450 (1990).
4. Dardis A, Bergadá I, Bergadá C, Rivarola M, Belgorosky A: Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 10:55-61 (1997).
5. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet i:711-713 (1959).
6. Gruñeiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergadá C: Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res 55:271-277 (2001).
7. Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, et al: Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63:905-908 (1998).
8. Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES/ESPE Consensus Group: Consensus statement on management of intersex disorders. Arch Dis Child 91:554-563 (2006).
9. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303 (1959).
10. Josso N, de Grouchy J, Nezelof C, Frézal J, Jammet ML, Lamy M: Mixed gonadal dysgenesis. Two additional pediatric cases. Am J Dis Child 112:531-535 (1966).
11. Jost A: Recherches sur la différenciation sexuelle de l'embryon de lapin. III. Rôle des gonades foetales dans la différenciation sexuelle somatique. Archives d'Anatomie Microscopique et de Morphologie Expérimentale 36:271-315 (1947).
12. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R: Male development of chromosomally female mice transgenic for Sry. Nature 351:117-121 (1991).
13. Lee PA, Houk CP, Ahmed SF, Hughes IA, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology: Consensus Statement on Management of Intersex Disorders. International Consensus Conference on Intersex. Pediatrics 118:e488-e500 (2006).
14. Misra M, MacLaughlin DT, Donahoe PK, Lee MM: The role of Mullerian inhibiting substance in the evaluation of phenotypic female patients with mild degrees of virilization. J Clin Endocrinol Metab 88:787-792 (2003).
15. Morel Y, Rey R, Teinturier C, Nicolino M, Michel-Calemard L, et al: Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 161:49-59 (2002).
16. New MI: Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol 211:75-84 (2003).
17. New MI, Wilson RC: Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 96:12790-12797 (1999).
18. Pang SY: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 2:105-139 (1993).
19. Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, et al: Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866-874 (1988).
20. Prader A, Gurtner HP: Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paediatr Acta 10:397-411 (1955).
21. Rey R, Josso N: (2007). Sexual differentiation. In Endotext.org, L.J. De Groot, ed. Series Title: Pediatric Endocrinology, M.I. New, ed. Updated 2007 April 10. Cited 2007 May 26. Available from: http://www.endotext.org/pediatrics/ pediatrics7/pediatricsframe7.htm.
22. Rey RA, Belville C, Nihoul-Fékété C, Michel-Calemard L, Forest MG, et al: Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement. J Clin Endocrinol Metab 84:627-631 (1999).
23. Ross AJ, Capel B: Signaling at the crossroads of gonad development. Trends Endocrinol Metab 16:19-25 (2005).
24. Sax L: How common is intersex? A response to Anne Fausto-Sterling. J Sex Res 39:174-178 (2002).
25. Stuchi-Perez EG, Lukas-Croisier C, De Castro M, Baptista MT, Ribeiro Scolfaro M, et al: Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia. J Pediatr Endocrinol Metab 13:605-612 (2000).
26. Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL: 45,X/46,XY Mosaicism: Report of 27 Cases. Pediatrics 104:304-308 (1999).
27. Thyen U, Lanz K, Holterhus PM, Hiort O: Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 66:195-203 (2006).
28. Verkauskas G, Jaubert F, Lortat-Jacob S, Malan V, Thibaud E, Nihoul-Fékété C: The long-term follow up of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. J Urol 177:726-731 (2007).
29. Wilhelm D, Palmer S, Koopman P: Sex determination and gonadal development in mammals. Physiol Rev 87:1-28 (2007).