A Gender Assessment Team: Experience with 250 patients over a period of 25 years

Genetics in Medicine

Volumn 9, Issue 6, 2007, Pages 348-357

  Parisi, Melissa A ^a,b   Ramsdell, Linda A ^a   Burns, Mark W ^a,b,c   Carr, Michael C ^d   Grady, Richard E ^a,b   Gunther, Daniel F ^a,b   Kletter, Gadi B ^a,b,c   McCauley, Elizabeth ^a,b   Mitchell, Michael E ^a,e   Opheim, Kent E ^a   Pihoker, Catherine ^a,b   Richards, Gail E ^a,b   Soules, Michael R ^b,f   Pagon, Roberta A ^a,b  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c SWEDISH MEDICAL CENTER   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e Child Protection Center   (United States)

^f Seattle Reproductive Medicine   (United States)

Author keywords

Ambiguous genitalia; Androgen insensitivity syndrome; Congenital adrenal hyperplasia; Disorders of sex development; Intersex

Indexed keywords

ADOLESCENT; ANDROGEN INSENSITIVITY SYNDROME; CHILD; CHILD UROLOGY; CHROMOSOME ABERRATION; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYTOGENETICS; ENDOCRINOLOGY; FEMALE; GENETIC COUNSELING; GENETIC DISORDER; GENITAL MALFORMATION; GONADAL DYSGENESIS; GYNECOLOGY; HERMAPHRODITISM; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOSPADIAS; INFANT; MAJOR CLINICAL STUDY; MALE; MEDICAL GENETICS; PSYCHIATRY; PSYCHOSOCIAL CARE; RETROSPECTIVE STUDY; REVIEW; SEX DIFFERENTIATION DISORDER; SMALL FOR DATE INFANT; VAGINA DISEASE;

ADOLESCENT; CHILD; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTERDISCIPLINARY COMMUNICATION; MALE; RETROSPECTIVE STUDIES; SEX DIFFERENTIATION DISORDERS;

EID: 34250702663     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3180653c47     Document Type: Review

References (63)

1. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, et al. How sexually dimorphic are we? Review and synthesis. Am J Human Biol 2000;12:151-166.
2. Clayton PE, Miller WL, Oberfield SE, Ritzen EM, et al. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002;58:188-195.
3. Pang SY, Wallace MA, Hofman L, Thuline HC, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-874.
4. Dreger AD, Chase C, Sousa A, Gruppuso PA, et al. Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale. J Pediatr Endocrinol Metab 2005;18:729-733.
5. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554-563.
6. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118:e488-500.
7. McGillivray BC. The newborn with ambiguous genitalia. Semin Perinatol 1992;16:365-368.
8. Pagon RA. Diagnostic approach to the newborn with ambiguous genitalia. Pediatr Clin North Am 1987;34:1019-1031.
9. Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics. Pediatrics 2000;106:138-142.
10. Aaronson IA. The investigation and management of the infant with ambiguous genitalia: a surgeon's perspective. Curr Probl Pediatr 2001;31:168-194.
11. Grumbach MM, Hughes IA, Conte FA. Disorders of sex differentiation. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, editors. Williams textbook of endocrinology, 10th ed. Philadelphia: WB Saunders, 2003:842-1002.
12. Feldman KW, Smith DW. Fetal phallic growth and penile standards for newborn male infants. J Pediatr 1975;86:395-398.
13. Lee PA, Mazur T, Danish R, Amrhein J, et al. Micropenis. I. Criteria, etiologies and classification. Johns Hopkins Med J 1980;146:156-163.
14. Schonfeld WA, Beebe GW. Normal growth and variation in the male genitalia from birth to maturity. J Urol 1942;48:759-777.
15. Oberfield SE, Mondok A, Shahrivar F, Klein JF, et al. Clitoral size in full-term infants. Am J Perinatol 1989;6:453-454.
16. Phillip M, De Boer C, Pilpel D, Karplus M, et al. Clitoral and penile sizes of full term newborns in two different ethnic groups. J Pediatr Endocrinol Metab 1996;9:175-179.
17. Skoog S. Office pediatric urology. In: Gillenwater JY, Howards F, Mitchell M, editors. Adult and pediatric urology, 4th ed. Philadelphia: Lippincott, Williams, and Wilkins, 2002:2689.
18. Garel L, Dubois J, Grignon A, Filiatrault D, et al. US of the pediatric female pelvis: a clinical perspective. Radiographics 2001;21:1393-1407.
19. Herter LD, Golendziner E, Flores JA, Becker E Jr, et al. Ovarian and uterine sonography in healthy girls between 1 and 13 years old: correlation of findings with age and pubertal status. AJR Am J Roentgenol 2002;178:1531-1536.
20. Sinclair AH, Berta P, Palmer MS, Hawkins JR, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990;346:240-244.
21. Reijo R, Lee TY, Salo P, Alagappan R, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-393.
22. Gottlieb B, Beitel LK, Trifiro MA. Androgen insensitivity syndrome. GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource (database online) (April 8, 2004). Available at: http://www.geneclinics.org or http://www.genetests.org. Accessed November 14, 2004.
23. Hawkins JR. Mutational analysis of SRY in XY females. Hum Mutat 1993;2:347-350.
24. Meyer J, Sudbeck P, Held M, Wagner T, et al. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet 1997;6:91-98.
25. Foster JW, Dominguez-Steglich MA, Guioli S, Kowk G, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-530.
26. Mueller RF. The Denys-Drash syndrome. J Med Genet 1994;31:471-477.
27. Grumbach MM, Styne DM. Puberty: ontogeny, neuroendocrinology, physiology, and disorders. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, editors. Williams textbook of endocrinology, 10th ed. Philadelphia: WB Saunders, 2003:1115-1286.
28. Sinnecker GH, Hiort O, Dibbelt L, Albers N, et al. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet 1996;63:223-230.
29. Lee MM, Donahoe PK, Silverman BL, Hasegawa T, et al. Measurements of serum mullerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 1997;336:1480-1486.
30. Berenbaum SA. Management of children with intersex conditions: psychological and methodological perspectives. Growth Genet Horm 2003;19:1-6.
31. Sybert VP, Pagon RA, Ramsdell L, Marymee K. Re: true agonadism: report of a case analyzed with Y-specific DNA probes. Am J Med Genet 1995;55:113.
32. Kitamura K, Yanazawa M, Sugiyama N, Miura H, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359-369.
33. Mendez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, et al. Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. Am J Med Genet 1993;46:263-267.
34. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994;53:108-140.
35. Gatti JM, Kirsch AJ, Troyer WA, Perez-Brayfield MR, et al. Increased incidence of hypospadias in small-for-gestational age infants in a neonatal intensive-care unit. BJU Int 2001;87:548-550.
36. Hussain N, Chaghtai A, Herndon CD, Herson VC, et al. Hypospadias and early gestation growth restriction in infants. Pediatrics 2002;109:473-478.
37. Pinke LA, Rathbun SR, Husmann DA, Kramer SA. Penoscrotal transposition: review of 53 patients. J Urol 2001;166:1865-1868.
38. Margarit E, Soler A, Carrio A, Oliva R, et al. Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. J Med Genet 1998;35:727-730.
39. Vilain EJ. 46,XX testicular disorder of sex development. GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource (database online) (April 5, 2006). Available at: http://www.geneclinics.org or http://www.genetests.org. Accessed April 22, 2006.
40. Parisi MA, Kletter GB, Grady R, Mitchell M, et al. Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome? Am J Med Genet 2002;109:271-277.
41. Skoog SJ, Belman AB. Aphallia: its classification and management. J Urol 1989;141:589-592.
42. Wenstrup RJ, Pagon RA. Female pseudohermaphroditism with anorectal, mullerian duct, and urinary tract malformations: report of four cases. J Pediatr 1985;107:751-754.
43. Telvi L, Lebbar A, Del Pino O, Barbet JP, et al. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 1999;104:304-308.
44. Spence JE. Vaginal and uterine anomalies in the pediatric and adolescent patient. J Pediatr Adolesc Gynecol 1998;11:3-11.
45. Strubbe EH, Cremers CW, Willemsen WN, Rolland R, et al. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol 1994;3:192-199.
46. New MI, Betensky B. Congenital adrenal hyperplasia. GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource (database online) (April 15, 2004). Available at: http://www.geneclinics.org or http://www.genetests.org. Accessed November 22, 2004.
47. Sinnecker GHG, Hiort O, Nitsche EM, Holterhus P-M, et al. Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Eur J Pediatr 1997;156:7-14.
48. Bouvattier C, Carel JC, Lecointre C, David A, et al. Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab 2002;87:29-32.
49. Al-Agha AE, Thomsett MJ, Batch JA. The child of uncertain sex: 17 years of experience. J Paediatr Child Health 2001;37:348-351.
50. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85:120-124.
51. Pantzar T, McGillivray BC. A gender assessment team: the British Columbia experience 1982-1996. Am J Hum Genet 1996;59:A338.
52. Nitsche EM, Hiort O. The molecular basis of androgen insensitivity. Horm Res 2000;54:327-333.
53. Diamond M, Sigmundson HK. Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 1997;151:1046-1050.
54. Reiner WG. Sex assignment in the neonate with intersex or inadequate genitalia. Arch Pediatr Adolesc Med 1997;151:1044-1045.
55. Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HF, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 2002;110:e31.
56. Berenbaum SA, Bailey JM. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003;88:1102-1106.
57. Meyer-Bahlburg HF. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav 2005;34:423-438.
58. Warne G, Grover S, Hutson J, Sinclair A, et al. A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 2005;18:555-567.
59. Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab 2005;18:549-553.
60. Slijper FM, Drop SL, Molenaar JC, de Muinck Keizer-Schrama SM, et al. Long-term psychological evaluation of intersex children. Arch Sex Behav 1998;27:125-144.
61. Meyer-Bahlburg HF. Gender assignment and reassignment in 46,XY pseudohermaphroditism and related conditions. J Clin Endocrinol Metab 1999;84:3455-3458.
62. Eugster EA. Reality vs recommendations in the care of infants with intersex conditions. Arch Pediatr Adolesc Med 2004;158:428-429.
63. Frader J, Alderson P, Asch A, Aspinall C, et al. Health care professionals and intersex conditions. Arch Pediatr Adolesc Med 2004;158:426-428.