Page last updated: 2024-09-27

46,XX Gonadal Dysgenesis, Complete, Sry-Positive

Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.

Synonyms(10)

Synonym
Ovotesticular DSD
True Hermaphroditism
XX Male Syndrome, Sry-Positive
Hermaphroditism, True
Familial True Hermaphroditism
46,XX Gonadal Dysgenesis, Complete, Sry-Positive
Familial XX True Hermaphroditism
46,XX True Hermaphroditism, Sry-Positive
Ovotesticular Disorders of Sex Development
Ovotesticular Disorder Of Sex Development

Research Excerpts

Overview

ExcerptReference
"Ovotesticular disorders of sex development is a condition defined as the presence of ovarian tissue containing ovarian follicles and testicular tissue containing seminiferous tubules in the same individual."( Abd Wahab, AV; Lim, LM; Mohamed Tarmizi, MH, 2019)

Research

Studies (20)

TimeframeStudies, This Condition (%)All Conditions %
pre-19902 (10.00)23.3326
1990's0 (0.00)12.5806
2000's4 (20.00)18.1394
2010's13 (65.00)28.8240
2020's1 (5.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
letrozole0low10
estriol0low10
estrone0low10
dehydroepiandrosterone0low10
17-alpha-hydroxyprogesterone0low10
testosterone enanthate0low10
triphenyltin chloride0low10
finasteride0low10
triazoles0low10
pregnanetriol0low10
(s-dinitrophenyl)-6-mercaptopurine riboside triphosphate0low10
17-ketosteroids0low20
methyl farnesoate0low10
pregnanediol0low10
bassianolide0low10

Protein Targets (159)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase1001
pregnane X receptor2002
SMAD family member 24004
SMAD family member 34004
TDP1 protein6006
GLI family zinc finger 36006
Microtubule-associated protein tau1001
AR protein8008
progesterone receptor6006
glucocorticoid receptor [Homo sapiens]6006
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha5005
estrogen-related nuclear receptor alpha5005
farnesoid X nuclear receptor4004
pregnane X nuclear receptor5005
estrogen nuclear receptor alpha7007
G5005
vitamin D (1,25- dihydroxyvitamin D3) receptor5005
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 21001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a4004
activating transcription factor 62002
nuclear receptor subfamily 1, group I, member 21001
chromobox protein homolog 13003
nuclear factor erythroid 2-related factor 2 isoform 14004
geminin4004
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta102002
Voltage-dependent calcium channel gamma-2 subunit4004
Interferon beta5005
HLA class I histocompatibility antigen, B alpha chain 5005
Glucocorticoid receptor0404
Sex hormone-binding globulin0044
Glycine receptor subunit alpha-10404
Corticosteroid-binding globulin0404
Adenosine receptor A30202
Replicase polyprotein 1ab0101
Androgen receptor0606
Alpha-1B adrenergic receptor0202
Glutamate receptor 24004
Glycine receptor subunit beta0404
Glycine receptor subunit alpha-20404
Glycine receptor subunit alpha-30404
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0202
Sodium-dependent dopamine transporter 0202
TAR DNA-binding protein 433003
Inositol hexakisphosphate kinase 15005
cytochrome P450 2C9, partial5005
ATP-dependent phosphofructokinase1001
hypoxia-inducible factor 1 alpha subunit2002
RAR-related orphan receptor gamma4004
estrogen receptor 2 (ER beta)4004
cytochrome P450 family 3 subfamily A polypeptide 42002
cytochrome P450 2D61001
peroxisome proliferator-activated receptor delta3003
peroxisome proliferator activated receptor gamma3003
aryl hydrocarbon receptor1001
thyroid stimulating hormone receptor2002
thyroid hormone receptor beta isoform 23003
heat shock protein beta-11001
Beta-glucuronidase0101
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
Alpha-synuclein1203
G-protein coupled bile acid receptor 10011
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Cellular tumor antigen p532002
Bile salt export pump0404
Estrogen receptor0517
Polyunsaturated fatty acid lipoxygenase ALOX150202
UDP-glucuronosyltransferase 2B70001
Sodium-dependent serotonin transporter0404
Solute carrier organic anion transporter family member 1A10202
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20011
UDP-glucuronosyltransferase 1A100001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
endonuclease IV1001
ATAD5 protein, partial1001
NFKB1 protein, partial1001
GALC protein1001
nuclear receptor subfamily 1, group I, member 32002
nonstructural protein 11001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
Bloom syndrome protein isoform 11001
hexokinase-4 isoform 11001
peripheral myelin protein 22 isoform 11001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
glucokinase regulatory protein1001
DNA polymerase iota isoform a (long)1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
cytochrome P450 3A4 isoform 12002
Gamma-aminobutyric acid receptor subunit pi2002
Rap guanine nucleotide exchange factor 31001
Steryl-sulfatase0202
Aromatase0303
17-beta-hydroxysteroid dehydrogenase type 10203
Gamma-aminobutyric acid receptor subunit beta-12002
Gamma-aminobutyric acid receptor subunit delta2002
Gamma-aminobutyric acid receptor subunit gamma-22002
Gamma-aminobutyric acid receptor subunit alpha-52002
Gamma-aminobutyric acid receptor subunit alpha-32002
Gamma-aminobutyric acid receptor subunit gamma-12002
Gamma-aminobutyric acid receptor subunit alpha-22002
Gamma-aminobutyric acid receptor subunit alpha-42002
Gamma-aminobutyric acid receptor subunit gamma-32002
Gamma-aminobutyric acid receptor subunit alpha-62002
Mu-type opioid receptor0011
5-hydroxytryptamine receptor 2B0202
Gamma-aminobutyric acid receptor subunit alpha-12002
Gamma-aminobutyric acid receptor subunit beta-32002
Gamma-aminobutyric acid receptor subunit beta-22002
Mu-type opioid receptor0011
Inositol monophosphatase 11001
Cytochrome P450 1B10101
GABA theta subunit2002
Estrogen receptor beta0113
Ghrelin O-acyltransferase0101
Gamma-aminobutyric acid receptor subunit epsilon2002
Broad substrate specificity ATP-binding cassette transporter ABCG20101
mitogen-activated protein kinase 11001
nuclear receptor ROR-gamma isoform 11001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Cytochrome P450 2C9 0101
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 10101
3-oxo-5-alpha-steroid 4-dehydrogenase 10202
3-oxo-5-alpha-steroid 4-dehydrogenase 1 0202
3-oxo-5-alpha-steroid 4-dehydrogenase 20101
3-oxo-5-alpha-steroid 4-dehydrogenase 20202
Cytochrome P450 2C190101
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase0101
Canalicular multispecific organic anion transporter 10101
USP1 protein, partial1001
thyroid stimulating hormone receptor1001
EWS/FLI fusion protein1001
cytochrome P450 2C19 precursor1001
runt-related transcription factor 1 isoform AML1b1001
vitamin D3 receptor isoform VDRA1001
core-binding factor subunit beta isoform 21001
Carbonic anhydrase 20101
Cytochrome P450 11B1, mitochondrial0101
Cytochrome P450 11B2, mitochondrial0101
Amine oxidase [flavin-containing] A 0101
Luciferase1001
caspase 7, apoptosis-related cysteine protease1001
caspase-31001
thyrotropin-releasing hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x1001
Caspase-71001
thyroid hormone receptor beta isoform a1001
caspase-31001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]