KEGG   DISEASE: 46,XY gonadal dysgenesisHelp
Entry
H00607                      Disease                                

Name
46,XY gonadal dysgenesis
  Subgroup
Campomelic dysplasia (CD) [DS:H00442]
Frasier syndrome (FS)
Denys-Drash syndrome (DDS)
Description
Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.
Category
Reproductive system disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H00607  46,XY gonadal dysgenesis
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H00607  46,XY gonadal dysgenesis
BRITE hierarchy
Gene
(SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(CD) SOX9 [HSA:6662] [KO:K18435]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]
Other DBs
ICD-11: LD2A.1
ICD-10: Q99.1
MeSH: D006061
OMIM: 400044 300018 612965 613080 613762 233420 607080 614279 616067 114290 136680 194080
Reference
  Authors
Hughes IA
  Title
Disorders of sex development: a new definition and classification.
  Journal
Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
DOI:10.1016/j.beem.2007.11.001
Reference
  Authors
Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R
  Title
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
  Journal
Fertil Steril 103:1297-304 (2015)
DOI:10.1016/j.fertnstert.2015.01.043
Reference
PMID:1956279
  Authors
Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, Perlman EJ
  Title
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
  Journal
Medicine (Baltimore) 70:375-83 (1991)
DOI:10.1097/00005792-199111000-00003
Reference
  Authors
Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P
  Title
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
  Journal
Hum Genet 122:63-70 (2007)
DOI:10.1007/s00439-007-0373-8
Reference
  Authors
Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA
  Title
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
  Journal
Am J Med Genet A 161A:2487-94 (2013)
DOI:10.1002/ajmg.a.36084
Reference
  Authors
Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ
  Title
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
  Journal
Am J Hum Genet 84:658-63 (2009)
DOI:10.1016/j.ajhg.2009.03.016
Reference
  Authors
Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H
  Title
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
  Journal
Am J Hum Genet 87:898-904 (2010)
DOI:10.1016/j.ajhg.2010.11.003
Reference
  Authors
Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A
  Title
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
  Journal
Am J Hum Genet 89:201-18 (2011)
DOI:10.1016/j.ajhg.2011.06.009
Reference
  Authors
Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K
  Title
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
  Journal
Hum Mol Genet 23:3657-65 (2014)
DOI:10.1093/hmg/ddu074
Reference
PMID:9398852
  Authors
Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K
  Title
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
  Journal
Nat Genet 17:467-70 (1997)
DOI:10.1038/ng1297-467
Reference
  Authors
Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A
  Title
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation.
  Journal
Am J Med Genet A 146A:496-9 (2008)
DOI:10.1002/ajmg.a.32168

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