KEGG DISEASE: 46,XX testicular disorder of sex development

DISEASE: 46,XX testicular disorder of sex development

Entry

H00598                      Disease

Name

46,XX testicular disorder of sex development

Subgroup

SERKAL syndrome [DS:H02317]
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) [DS:H02318]

Description

46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H00598  46,XX testicular disorder of sex development

Gene

(SRXX1) SRY [HSA:6736] [KO:K09266]
(SRXX3) SOX3 [HSA:6658] [KO:K09267]
(SRXX4) NR5A1 [HSA:2516] [KO:K08560]
(SRXX5) NR2F2 [HSA:7026] [KO:K08548]

Other DBs

ICD-11:

LD2A.Y

ICD-10:

Q99.1

MeSH:

D058531

OMIM:

400045 300833 617480 618901

Reference

PMID:20688619

Authors

Kousta E, Papathanasiou A, Skordis N

Title

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

Journal

Hormones (Athens) 9:218-131 (2010)
DOI:10.14310/horm.2002.1272

Reference

PMID:23065160

Authors

Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS

Title

Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.

Journal

Radiographics 32:1599-618 (2012)
DOI:10.1148/rg.326125507

Reference

PMID:11750731 (SRXX1)

Authors

Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP

Title

46,XX sex reversal.

Journal

Arch Med Res 32:559-66 (2001)
DOI:10.1016/S0188-4409(01)00322-8

Reference

PMID:21183788 (SRXX3)

Authors

Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P

Title

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Journal

J Clin Invest 121:328-41 (2011)
DOI:10.1172/JCI42580

Reference

PMID:27490115 (SRXX4)

Authors

Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M

Title

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Journal

Genet Med 19:367-376 (2017)
DOI:10.1038/gim.2016.118

Reference

PMID:29478779 (SRXX5)

Authors

Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Solyom J, Halasz Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K

Title

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Journal

Am J Hum Genet 102:487-493 (2018)
DOI:10.1016/j.ajhg.2018.01.021

» Japanese version

All links

Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (6)   
   PubMed (6)   
All databases (18)   

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