The clinical and genetic heterogeneity of mixed gonadal dysgenesis: Does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

European Journal of Pediatrics

Volumn 171, Issue 10, 2012, Pages 1497-1502

  Öcal, Gönül ^a   Berberoǧlu, Merih ^a   Şiklar, Zeynep ^a   Ruhi, Hatice Ilgin ^a   Tükün, Ajlan ^a   Çamtosun, Emine ^a   Erdeve, Şenay Savaş ^a   Hacihamdioǧlu, Bülent ^a   Fitöz, Suat ^a  

^a ANKARA UNIVERSITY   (Turkey)

Author keywords

Classification; Disorder of sexual development; Gonadal dysgenesis; Mixed gonadal dysgenesis

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONSENSUS; DISEASE CLASSIFICATION; GENETIC HETEROGENEITY; GONADAL DYSGENESIS; HUMAN; INFANT; KLINEFELTER SYNDROME; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEX CHROMOSOME MOSAICISM; SEX DIFFERENTIATION DISORDER; TURNER SYNDROME; URETHROPLASTY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC HETEROGENEITY; GENITALIA; GONADAL DYSGENESIS, MIXED; GONADAL STEROID HORMONES; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPE; MALE; MOSAICISM; PHENOTYPE; RETROSPECTIVE STUDIES; SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT; TURKEY;

EID: 84867581522     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1754-0     Document Type: Article

References (37)

1. Aaronson IA (2011) Terminology for disorders of sex development: clarity or confusion. J Urol 185:388-389
2. Ahmed SF, Khwaja O, Hughes IA (2000) The role of a clinical score in the assesment of ambiguous genitalia. BJU Int 85:120- 124
3. Alikaşifoǧlu A, Demirbilek H, Ozon A, Gonc N, Kandemir N (2008) A clinical review of patients with 45, X/46, XY genotype. Horm Res 70(suppl):156
4. Alvarez-Nava F, Puerta H, Soto M, Pineda L, Temponi A (2008) High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45, X/46, XY gonadal dysgenesis. Fertil Steril 89:458-460
5. Andrade JG, Guerra-Júnior G, Maciel-Guerra AT (2010) 46, XY and 45, X/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol 54:331-334
6. Barthold JS (2011) Disorders of sex differentiation: a pediatric urologist's perspective of new terminology and recommendations. J Urol 85:393-400
7. Birnbacher R, Marberger M, Weissenbacher G, Schober E, Frisch H (1999) Gender identity in an adolescent with mixed gonadal dysgenesis. J Pediatr Endocrinol Metab 12:687-690
8. Brook CGD, Brown RS (2008) Tests and normal values in pediatric endocrinology. In: Brook CGD (ed) Handbook of Clinical Pediatric Endocrinology, Firstth edn. Blackwell Publ, London, pp 214-237
9. Canto P, Galicia N, Soderlung D, Escudero I, Mendez JP (2004) Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol 15:55-58
10. 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
11. Chemes H, Muzulin PM, Venara MC, Mulhmann Mdel C, Martínez M, Gamboni M (2003) Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS 111 (1):12-23
12. Cohen-Kettenis PT (2010) Psychosocial and psychosexual aspects of disorders of sex development. Best Pract Res Clin Endocrinol Metab 24:325-334
13. Dreger AD, Chase C, Sausa A, Gruppusa A, Frader J (2005) Changing nomenclature/taxonomy for intersex, scientific and clinical rationale. J Pediatr Endocrinol Metab 18:729-733
14. Erdoǧan S, Kara C, Uçaktürk A, Aydin M (2011) Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol 3:77-83
15. Ribeiro G, de Andrade J, Guerra-Junior G, Macial-Guerra T (2010) 46, XY and 45, X/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arg Braqs Endocrinol Metab 54:331-334
16. Gantt PA, Bryrd JR, Greenblatt RB, McDonough PG (1980) A clinical and cytogenetic study of fifteen patients with 45, X/46XY gonadal dysgenesis. Fertil Steril 34:216-221
17. Hughes IA (2007) Disorders of sexual differentiation. Horm Res 67(suppl1):91-95
18. Houk CP, Lee PA (2008) Concensus statement on terminology and management: disorders of sex development. Sex Dev 2:172-180
19. Karatza A, Chrysis D, Stefanou EG, Mantagos S, Salakos CJ (2009) Mixed gonadal dysgenesis in a 45, X neonate with chromosome Y material in the dysgenetic gonad. Pediatr Endocrinol Metab 22:1083-1086
20. Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (2002) True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Patol 15:1013-1019
21. Knudtzon J, Aarskog D (1987) 45, X/46,XY mosaicism. A clinical review of ten cases. Eur J Pediatr 146:266-271
22. Layman LC, Tho SPT, Clark AD, Kulharya A, McDonough PG (2009) Phenotypic spectrum of 45, X/46XY males with ring Y chromosome and bilaterally descended testes. Fertil Steril 91:791-797
23. Lee PA, Houk CP, Ahmet F, Hughes IA, in collaboration with participants in the international concencus conferance on intersex organized by the Lawson Wilkinns Pediatric Endocrine Society and the European Society for Pediatric Endocrinology (2006) Concensus statement on management of intersex disorders. Pediatrics 118:488-500
24. McCarty BM, Migeon CJ, Meyer-Bahlburg HFL, Zacur H, Wisniewsski AM (2006) Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metab 19:873-877
25. Ocal G, Berberoǧlu M, Siklar Z, Bilir P (2009) Gender dysphoria and gender change in an adolescent with 45, X/46, XY mixed gonadal dysgenesis. Exp Clin Endocrinol Diabetes 117:301-304
26. Ocal G, Berberoǧlu M, Siklar Z, Bilir P, Uslu R, Yaǧmurlu A, Tükün A, Akar N, Soygür T, Gültan S, Gedik V (2010) Disorders of sexual development: an overview of 18 years experience in the Pediatric Endocrinology Department of Ankara Üniversity. J Pediatr Endocrinol Metab 23:1123-1132
27. Pascual J,McMamm LP, Gallagher T, Pinksker JE (2009) Ambiguous genitalia in a newborn with 45, X/46, X, idic (Y) ovotesticular disorder of sex development. AACE Endocr Pract 15:732-736
28. Queipo G, Zentero JC, Pena R, Nieto K, Radillo A, Dorantes LM, Erana L, Lieberman E, Soderlund D, Jimenez AL, Ramon G, Kofman-Alfonso S (2002) Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicisim for Yderived sequences in 46, XX cases. Hum Genet 111:278-283
29. Quigley CA, De Bellis A, Marschake KB, El-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271-316
30. Rohatgi M, Gupta DK, Menon PS, Verma IC, Mathur M (1992) Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism - a critical analysis. Indian J Pediatr 59:487-500
31. Siklar Z, Berberoǧlu M, Adiyaman P, Salih M, Tükün A, Çetinkaya E, Aycan Z, Evliyaoǧlu O, Ergür AT, Öcal G (2007) Disorders of gonadal development: a broad clinical, cytogenetic, histopatologenic spectrum. Pediatr Endocrinol Rev 4:210-217
32. Takahashi I, Miyamoto J, Hasegawa Y (2006) Limitations of Gbanding karyotype analysis with peripheral lymphocytes in diagnosing mixed gonadal dysgenesis. Clin Pediatr Endocrinol 15:109-115
33. Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL (1999) 45, X/46, XY mosaicism: report of 27 cases. Pediatrics 104:304-308
34. Tosson H, Rose SR, Gartner LA (2010) Children with 45, X/46XY karyotype from birth to adult height. Horm Res 74:190-200
35. Uslu R, Oztop D, Ozcan O, Yilmaz S, Berberoǧlu M, Adiyaman P, Cakmak M, Kerimoǧlu E, Ocal G (2007) Factors contributing to sex assignment and reassignment decisions in Turkish children with 46, XY disorders of sex development. J Pediatr Endocrinol Metab 20:1001-1015
36. Verkauskas G, Macianskyte D, Janciauskas D, Preiksa RT, Verkauskiene R, Jaubert F (2009) Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation. Medicina (Kaunas) 45:3
37. Vilain E, Sadberg DE (2009) Disorders of sex development: Nomenclature. Growth Genet Horm 25(1):9-10