Page last updated: 2024-09-27

46, XX Disorders of Sex Development

Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.

Synonyms(5)

Synonym
46, XX Disorders of Sex Development
46,XX DSD
46,XX Disorders of Sex Development
Female Pseudohermaphroditism
46, XX DSD

Research

Studies (64)

TimeframeStudies, This Condition (%)All Conditions %
pre-199018 (28.13)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's41 (64.06)28.8240
2020's5 (7.81)9.53
DrugIndicatedRelationship StrengthStudiesTrials
dalteparin0low10
anastrozole0low10
azathioprine0low10
estriol0low10
aldosterone0low20
prednisone0low20
dehydroepiandrosterone0low10
ethinyl estradiol0low10
methyltestosterone0low20
androstenedione0low10
norethindrone0low10
17-alpha-hydroxyprogesterone0low20
medroxyprogesterone acetate0medium11
meglumine0low10
dihydrotestosterone0low10
fludrocortisone0low20
pregnanetriol0low10
17 alpha-hydroxyprogesterone caproate0low10
cortisone0low90
inositol 3-phosphate0low20
tacrolimus0low10
bromochloroacetic acid0low10
leuprolide0low10
methimazole0low10
17-ketosteroids0low30
dinoprostone0low10
sodium ethylxanthate0low10
warfarin0low10
exudates0low10

Protein Targets (287)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Ferritin light chain3003
glp-1 receptor, partial2002
phosphopantetheinyl transferase3003
hypoxia-inducible factor 1 alpha subunit6006
RAR-related orphan receptor gamma140014
SMAD family member 29009
Fumarate hydratase3003
SMAD family member 39009
TDP1 protein170017
GLI family zinc finger 3180018
Microtubule-associated protein tau4004
AR protein220022
Smad32002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
estrogen receptor 2 (ER beta)120012
nuclear receptor subfamily 1, group I, member 3100010
progesterone receptor170017
cytochrome P450 family 3 subfamily A polypeptide 48008
glucocorticoid receptor [Homo sapiens]210021
retinoic acid nuclear receptor alpha variant 1180018
retinoid X nuclear receptor alpha150015
estrogen-related nuclear receptor alpha160016
farnesoid X nuclear receptor120012
pregnane X nuclear receptor160016
estrogen nuclear receptor alpha210021
G7007
cytochrome P450 2D63003
polyprotein3003
67.9K protein2002
bromodomain adjacent to zinc finger domain 2B1001
peroxisome proliferator-activated receptor delta100010
peroxisome proliferator activated receptor gamma120012
vitamin D (1,25- dihydroxyvitamin D3) receptor140014
IDH14004
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a150015
thyroid stimulating hormone receptor8008
activating transcription factor 66006
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a7007
v-jun sarcoma virus 17 oncogene homolog (avian)100010
Histone H2A.x8008
Caspase-73003
vitamin D3 receptor isoform VDRA4004
nuclear factor erythroid 2-related factor 2 isoform 24004
parathyroid hormone/parathyroid hormone-related peptide receptor precursor2002
caspase-33003
thyroid hormone receptor beta isoform 2170017
heat shock protein beta-17007
huntingtin isoform 21001
nuclear factor erythroid 2-related factor 2 isoform 1170017
nuclear receptor ROR-gamma isoform 15005
geminin150015
survival motor neuron protein isoform d6006
replicative DNA helicase0001
recombinase A0011
lamin isoform A-delta107007
neuropeptide S receptor isoform A3003
Voltage-dependent calcium channel gamma-2 subunit9009
Interferon beta9009
HLA class I histocompatibility antigen, B alpha chain 7007
Cellular tumor antigen p53110011
Glutamate receptor 29009
Alpha-synuclein3205
Spike glycoprotein4004
Guanine nucleotide-binding protein G4004
Inositol hexakisphosphate kinase 17007
cytochrome P450 2C9, partial7007
acetylcholinesterase3003
pregnane X receptor6006
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 25005
nuclear receptor subfamily 1, group I, member 23003
chromobox protein homolog 14004
histone acetyltransferase KAT2A isoform 11001
Glucocorticoid receptor017220
Sex hormone-binding globulin011213
Glycine receptor subunit alpha-1016016
Corticosteroid-binding globulin0808
Adenosine receptor A30404
Replicase polyprotein 1ab0101
Androgen receptor015116
Alpha-1B adrenergic receptor0404
Glycine receptor subunit beta016016
Glycine receptor subunit alpha-2016016
Glycine receptor subunit alpha-3016016
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0404
Sodium-dependent dopamine transporter 0404
TAR DNA-binding protein 436006
ATP-dependent phosphofructokinase2002
thyroid hormone receptor beta isoform a4004
Mineralocorticoid receptor 0325
Mineralocorticoid receptor0202
Solute carrier organic anion transporter family member 1A10102
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
ATP-binding cassette sub-family C member 30606
Multidrug resistance-associated protein 40607
Bile salt export pump011011
Aromatase0508
Cytochrome P450 2C9 0202
Amine oxidase [flavin-containing] A 0101
UDP-glucuronosyltransferase 1A40102
Canalicular multispecific organic anion transporter 10606
Chain A, HADH2 protein5005
Chain B, HADH2 protein5005
interleukin 85005
aldehyde dehydrogenase 1 family, member A18008
regulator of G-protein signaling 43003
nonstructural protein 12002
Bloom syndrome protein isoform 12002
peripheral myelin protein 22 isoform 13003
potassium voltage-gated channel subfamily H member 2 isoform d2002
importin subunit beta-1 isoform 11001
mitogen-activated protein kinase 12002
nuclear factor NF-kappa-B p105 subunit isoform 11001
snurportin-11001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase iota isoform a (long)4004
peripheral myelin protein 226006
muscleblind-like protein 1 isoform 12002
Beta-glucuronidase0202
Cholinesterase0101
Gastrin/cholecystokinin type B receptor0001
Testosterone 17-beta-dehydrogenase 30202
Nuclear receptor ROR-gamma8008
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
thioredoxin reductase3003
ATAD5 protein, partial2002
thioredoxin glutathione reductase2002
EWS/FLI fusion protein2002
P531001
aryl hydrocarbon receptor3003
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a1001
cytochrome P450 3A4 isoform 15005
M-phase phosphoprotein 82002
muscarinic acetylcholine receptor M12002
Gamma-aminobutyric acid receptor subunit pi5005
Bile salt export pump0202
Gamma-aminobutyric acid receptor subunit beta-15005
Gamma-aminobutyric acid receptor subunit delta5005
Gamma-aminobutyric acid receptor subunit gamma-25005
Gamma-aminobutyric acid receptor subunit alpha-55005
Gamma-aminobutyric acid receptor subunit alpha-35005
Gamma-aminobutyric acid receptor subunit gamma-15005
Gamma-aminobutyric acid receptor subunit alpha-25005
Gamma-aminobutyric acid receptor subunit alpha-45005
Gamma-aminobutyric acid receptor subunit gamma-35005
Gamma-aminobutyric acid receptor subunit alpha-65005
Gamma-aminobutyric acid receptor subunit alpha-15005
Gamma-aminobutyric acid receptor subunit beta-35005
Gamma-aminobutyric acid receptor subunit beta-25005
GABA theta subunit5005
ATPase family AAA domain-containing protein 53003
Ataxin-23003
Gamma-aminobutyric acid receptor subunit epsilon5005
Protein-arginine deiminase type-40101
endonuclease IV1001
dopamine D1 receptor1001
GLS protein1001
atrial natriuretic peptide receptor 1 precursor1001
flap endonuclease 11001
Potassium voltage-gated channel subfamily A member 10011
Multidrug and toxin extrusion protein 10202
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0303
G-protein coupled bile acid receptor 10022
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Chain A, Sex Hormone-Binding Globulin0011
thyrotropin-releasing hormone receptor1001
transcriptional regulator ERG isoform 33003
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0549
Glucocorticoid receptor0101
Sex hormone-binding globulin0101
Androgen receptor04410
Androgen receptor0123
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
ALK tyrosine kinase receptor0101
Chain A, Cruzipain2002
thyroid stimulating hormone receptor2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
prostaglandin E2 receptor EP2 subtype1001
Solute carrier family 22 member 20102
Solute carrier family 22 member 1 0001
Solute carrier organic anion transporter family member 1A50001
Cytochrome P450 3A40213
Prostaglandin E2 receptor EP3 subtype0101
Prostaglandin E2 receptor EP4 subtype0101
Prostaglandin E2 receptor EP1 subtype0213
Prostaglandin E2 receptor EP1 subtype0101
Prostaglandin E2 receptor EP4 subtype0213
Prostaglandin F2-alpha receptor0011
Prostaglandin E2 receptor EP4 subtype0112
Prostaglandin E2 receptor EP3 subtype0213
Prostaglandin E2 receptor EP2 subtype0213
Prostacyclin receptor0213
Solute carrier organic anion transporter family member 2A10001
Solute carrier family 22 member 60001
Solute carrier family 22 member 70001
Prostaglandin E2 receptor EP2 subtype0101
Prostaglandin E2 receptor EP2 subtype0112
Solute carrier family 22 member 200101
Solute carrier family 22 member 80001
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Solute carrier organic anion transporter family member 2A10001
Solute carrier family 22 member 110001
Solute carrier organic anion transporter family member 1B20001
Solute carrier family 22 member 70001
Estrogen receptor0729
Polyunsaturated fatty acid lipoxygenase ALOX150202
UDP-glucuronosyltransferase 2B70002
Sodium-dependent serotonin transporter0606
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20011
UDP-glucuronosyltransferase 1A100001
Luciferase3003
USP1 protein, partial2002
PPM1D protein2002
caspase 7, apoptosis-related cysteine protease1001
caspase-31001
lysosomal alpha-glucosidase preproprotein1001
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
Vpr1001
Cytochrome P450 2B10101
Aldo-keto reductase family 1 member B10202
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Cytochrome P450 2B60101
UDP-glucuronosyltransferase 1A1 0102
Sodium-dependent noradrenaline transporter 0202
3-oxo-5-alpha-steroid 4-dehydrogenase 1 0101
Adenosine receptor A2a0202
Mu-type opioid receptor0202
Kappa-type opioid receptor0202
Sulfotransferase 1A10214
Aldehyde oxidase0101
Nuclear receptor subfamily 1 group I member 3 0101
Multidrug and toxin extrusion protein 20101
Estrogen receptor beta0224
GALC protein1001
Gonadotropin-releasing hormone receptor0101
Gonadotropin-releasing hormone receptor0202
Chain A, Beta-lactamase3003
PINK11001
Parkin1001
Histamine H2 receptor0202
5-hydroxytryptamine receptor 1B0101
Aldo-keto reductase family 1 member C30101
Aldo-keto reductase family 1 member C2 0101
Aldo-keto reductase family 1 member C10101
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Polyphenol oxidase 20203
Dopamine beta-hydroxylase 0202
Lactoperoxidase0101
Lanosterol 14-alpha demethylase0202
glucocerebrosidase1001
Estrogen receptor0011
Estrogen receptor beta0011
DNA polymerase kappa isoform 11001
Nuclear receptor subfamily 1 group I member 20011
Cytochrome P450 3A50101
Serine/threonine-protein kinase mTOR0101
Peptidyl-prolyl cis-trans isomerase FKBP1A0213
Peptidyl-prolyl cis-trans isomerase FKBP1B0011
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform0101
Peptidyl-prolyl cis-trans isomerase FKBP50101
Splicing factor 3B subunit 30101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Solute carrier organic anion transporter family member 1B10101
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, 2-oxoglutarate Oxygenase1001
Albumin0011
Albumin0011
Proprotein convertase subtilisin/kexin type 70101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 10101
Protease 0101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 1 0202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]