Disorders of sexual differentiation

Hormone Research

Volumn 67, Issue SUPPL. 1, 2007, Pages 91-95

  Hughes, I A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Disorders of sex development; Gender dysphoria; Gender identity disorder; Sexual differentiation

Indexed keywords

ANDROGEN; STEROID 21 MONOOXYGENASE;

ANDROGEN INSENSITIVITY SYNDROME; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL ADRENAL HYPERPLASIA; DISEASE CLASSIFICATION; EMBRYONIC STRUCTURES; GENDER DYSPHORIA; GENDER IDENTITY; GENE IDENTIFICATION; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KLINEFELTER SYNDROME; LEYDIG CELL; MEDICAL ASSESSMENT; PRADER WILLI SYNDROME; PRIMORDIAL GERM CELL; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; SEQUENCE HOMOLOGY; SEX DIFFERENTIATION; SEXUAL DEVELOPMENT; SEXUAL DYSFUNCTION; SEXUAL ORIENTATION; SRY GENE; STEROID 21 MONOOXYGENASE DEFICIENCY; TRUE HERMAPHRODITISM; TURNER SYNDROME;

EID: 33847053561     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000097559     Document Type: Conference Paper

References (13)

1. Federman DD: The biology of human sex differences. N Engl J Med 2006;54:1507-1514.
2. Grumbach MM, Hughes IA, Conte FA: Disorders of sex differentiation; in Larsen PR, Kronenberg HM, Melmed S, et al (eds): Williams Textbook of Endocrinology, 10th edition. Philadelphia, WB Saunders, 2003, pp 842-1002.
3. Ahmed SF, Hughes IA: The genetics of male undermasculinisation. Clin Endocrinol 2002;56:1-18.
4. Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, Forabosco A, Pilia G, Schlessinger D: Foxl2 is required for commitment to ovary differentiation. Hum Mol Genet 2005;15:2053-2062.
5. Raile K, Stobbe H, Trobs RB, Kiess W, Pfaeffle R: A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Eur J Endocrinol 2005;153:353-358.
6. Quigley CA, DeBellis A, Marschke KB, El-Awady MK, Wilson EM, French FS: Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 1995:16:271-321.
7. Hines M, Kaufman FR: Androgen and the development of human sex-typical behaviour: rough-and-tumble play and sex of preferred playmates in children with congenital adrenal hyperplasia (CAH). Child Dev 1994:65:1042-1053.
8. Hines M, Brook C, Conway GS: Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behaviour in women and men with congenital adrenal hyperplasia (CAH). J Sex Res 2004;41:1-7.
9. Hughes IA, Houk C, Ahmed SF, Lee PA: Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554-563.
10. von Prader A: Der Genitalbefund beim Pseudohermaphroditus feminus des kongenitalen adrenogenitalen Syndromes. Helv Pediatr Acta 1954;9:231-248.
11. Ahmed SF, Khwaja O, Hughes IA: The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85:120-124.
12. Ogilvy-Stuart AL, Brain CE: Early assessment of ambiguous genitalia. Arch Dis Child 2004;89:401-407.
13. Deeb A, Hughes IA: Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU Int 2005;96:401-403.