Etiological classification and clinical assessment of children and adolescents with disorders of sex development

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 3, Issue 2, 2011, Pages 77-83

  Erdoan, Sema ^a   Kara, Cengiz ^a   Uçaktürk, Ahmet ^a   Aydin, Murat ^a  

^a ONDOKUZ MAYIS UNIVERSITY   (Turkey)

Author keywords

Adolescents; Children; Classification; Disorders of sex development; Etiology

Indexed keywords

ADOLESCENT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL ADRENAL HYPERPLASIA; DISEASE CLASSIFICATION; FEMALE; GENITAL MALFORMATION; GONADAL DYSGENESIS; HUMAN; HYPOSPADIAS; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NEWBORN; RETROSPECTIVE STUDY; SEX CHROMOSOME ABERRATION; SEXUAL DEVELOPMENT; SHORT STATURE; TURNER SYNDROME;

46, XX DISORDERS OF SEX DEVELOPMENT; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ANDROGEN-INSENSITIVITY SYNDROME; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DISORDERS OF SEX DEVELOPMENT; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; RETROSPECTIVE STUDIES; TURKEY; TURNER SYNDROME;

EID: 79959191345     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.v3i2.16     Document Type: Article

References (21)

1. Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 2008;22:119-134.
2. 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 2006;118:488-500.
3. Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554-563.
4. th edition. New York: Marcel Dekker; 2003:319-345.
5. th edition. Philadelphia: Saunders; 2004:783-848.
6. Prader A. Der Genitalbefund beim Pseudoherafroditismus feminius des kongenitalen adrenogenitalen Syndroms. Helvetica Paediatrica Acta 1954;9:231-248.
7. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85: 120-124.
8. Kubini K, Zachmann M, Albers N, Hiort O, Bettendorf M, Wölfle J, Bidlingmaier F, Klingmüller D. Basal Inhibin B and the Testosterone response to human chorionic gonadotropin correlate in prepubertal boys. J Clin Endocrinol Metab 2000;85:134-138.
9. th edition. Philadelphia: Saunders; 2008:783-848.
10. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner syndromes: Live-birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-27.
11. Bojesan A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003;88:622-626.
12. Parisi MA, Ramsdell LA, Burns MW et al. A Gender Assessment Team: experience with 250 patients over a period of 25 years. Genet Med 2007;9:348-357.
13. Al-Agha AE, Thomsett MJ, Batch JA. The child of uncertain sex: 17 years of experience. J Paediatr Child Health 2001;37:348-351.
14. Joshi RR, Rao S, Desai M. Etiology and clinical profile of ambiguous genitalia an overview of 10 years experience. Indian Pediatr 2006;43:974-979.
15. Virtanen HE, Toppari J. Epidemiology and pathogenesis of cryptorchidism. Hum Reprod Update 2008;14:49-58.
16. Acerini CL, Miles HL, Dunger DB, Ong KK, Hughes IA. The descriptive epidemiology of congenital and acquired cryptorchidism in a UK infant cohort. Arch Dis Child 2009;94: 868-872.
17. Kumanov P, Tomova A, Robeva R, Hubaveshki S. Prevalence of Cryptorchidism Among Bulgarian Boys. J Clin Res Ped Endo 2008;1:72-79.
18. Hassan ME, Mustafawi A. Laparoscopic management of impalpable testis in children, new classification, lessons learned and rare anomalies. J Laparoendosc Adv Surg Tech A 2010;20:265-269.
19. Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-874.
20. Clayton PE, Miller WL, Oberfield SE, 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.
21. Thyen U, Lanz K, Holterhus PM, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 2006;66:195-203.