KEGG   DISEASE: 46,XX testicular disorder of sex developmentHelp
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 [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H00598  46,XX testicular disorder of sex development
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
BRITE hierarchy
Gene
(SRXX1) SRY [HSA:6736] [KO:K09266]
(SRXX3) SOX3 [HSA:6658] [KO:K09267]
(SRXX4) NR5A1 [HSA:2516] [KO:K08560]
Other DBs
ICD-11: LD2A.Y
ICD-10: Q99.1
MeSH: D058531
OMIM: 400045 300833 617480
Reference
  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
  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
  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
  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
  Authors
Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S
  Title
The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.
  Journal
Endocrinology 146:4016-23 (2005)
DOI:10.1210/en.2005-0463
Reference
  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
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