Disorders of sex development in developmental syndromes

Endocrine Development

Volumn 14, Issue , 2009, Pages 174-180

  Hiorta, Olaf ^a   Gillessen Kaesbachb, Gabriele ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANATOMICAL VARIATION; BIOCHEMICAL COMPOSITION; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER; CYTOGENETICS; DEVELOPMENTAL DISORDER; FAMILY COUNSELING; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC COUNSELING; GONAD DEVELOPMENT; GONADAL DISEASE; HUMAN; HUMAN CHROMOSOME; MOLECULAR DYNAMICS; MONOGENIC DISORDER; PRIORITY JOURNAL; PROGNOSIS; RECURRENCE RISK; SEX DEVELOPMENT DISORDER; SEX DIFFERENCE; SEXUAL DEVELOPMENT; STEROIDOGENESIS; SYNDROME; UROGENITAL TRACT DISEASE; FEMALE; GENETICS; MALE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; REVIEW; SEX DIFFERENTIATION DISORDER;

ABNORMALITIES, MULTIPLE; FEMALE; HUMANS; MALE; SEX DIFFERENTIATION DISORDERS; SYNDROME;

EID: 65549166926     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000207486     Document Type: Conference Paper

References (12)

1. 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.
2. Hiort O, Holterhus PM: Molecular and hormone dependent events in sexual differentiation; in Henry A, Norman A (eds): Encyclopedia of Hormones. Los Angeles, Academic Press, 2004, pp 349-356.
3. Clarkson MJ, Harley VR: Sex with two SOX on: SRY and SOX9 in testis development. Trends Endocrinol Metab 2002;13:106-111
4. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D: Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991;67:437-447
5. Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding ste-roidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 1999;22:125-126.
6. Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC: Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat 2008;29: 59-64
7. Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P: Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 2008;29:220-226.
8. Mandel H, Shemer R, Borochowith ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E: SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet 2008;82:39-47.
9. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A: Isolated 46,XY gonadal dys-genesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 2007;92:3305-3313.
10. Raymond CS, Parker ED, Kettlewell JR, Brown LG, Page DC, Kusz K, Jaruzelska J, Reinberg Y, Fletjer WL, Bardwell VJ, Hirsch B, Zarkower D: A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Molec Genet 1999;8:989-996.
11. Arlt W, Walker EA, Draper N, Ivison HE, Ride J P, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa B P, Malunowicz EM, Stewart PM, Shackleton CH: Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 2004;363:2128-2135.
12. Porter FD: Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2008;16:535-541.