Page last updated: 2024-09-27

46, XY Disorders of Sex Development

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

Synonyms(10)

Synonym
46, XY Disorders of Sex Development
Male Pseudohermaphroditism
46,XY Sex Reversal, Partial or Complete, NR5A1-Related
46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure
46,XY DSD
46,XY Disorders of Sex Development
46,XY Sex Reversal 3
46, XY DSD
Disorder of Sex Development, 46,XY
Sex Reversal, XY, With Or Without Adrenal Failure

Research Excerpts

Research

Studies (89)

TimeframeStudies, This Condition (%)All Conditions %
pre-19905 (5.62)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's57 (64.04)28.8240
2020's27 (30.34)9.53
DrugIndicatedRelationship StrengthStudiesTrials
ifosfamide0low20
risperidone0low10
corticosterone0low10
prednisolone0low10
aldosterone0low20
tetrahydrocortisol0low10
dehydroepiandrosterone0low10
glutamine0low10
androstenedione0low60
desoxycorticosterone0low10
17-alpha-hydroxyprogesterone0low30
arginine0low10
pregnenolone0low20
dihydrotestosterone0low160
fludrocortisone0low10
etoposide0low10
captopril0low10
sertindole0low10
methotrexate0low10
angiotensin ii0low10
cortisone0low10
tamoxifen0low10
nadp0low10
17-ketosteroids0low20
phenylephrine hydrochloride0low10
cysteine0low10
pregnanediol0low10
jaw0low10
endothelin-10low10
transforming growth factor beta0low20

Protein Targets (521)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase5005
pregnane X receptor3003
SMAD family member 27007
SMAD family member 37007
TDP1 protein150015
GLI family zinc finger 3140014
Microtubule-associated protein tau5005
AR protein190019
progesterone receptor140014
glucocorticoid receptor [Homo sapiens]150015
retinoic acid nuclear receptor alpha variant 1110011
retinoid X nuclear receptor alpha130013
estrogen-related nuclear receptor alpha150015
farnesoid X nuclear receptor7007
pregnane X nuclear receptor130013
estrogen nuclear receptor alpha170017
G3003
vitamin D (1,25- dihydroxyvitamin D3) receptor120012
arylsulfatase A3003
euchromatic histone-lysine N-methyltransferase 2100010
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a100010
activating transcription factor 63003
nuclear receptor subfamily 1, group I, member 24004
chromobox protein homolog 1120012
nuclear factor erythroid 2-related factor 2 isoform 1140014
geminin110011
survival motor neuron protein isoform d7007
histone acetyltransferase KAT2A isoform 13003
lamin isoform A-delta106006
Voltage-dependent calcium channel gamma-2 subunit9009
Interferon beta7007
HLA class I histocompatibility antigen, B alpha chain 3003
Glucocorticoid receptor07114
Sex hormone-binding globulin01910
Glycine receptor subunit alpha-10606
Corticosteroid-binding globulin010010
Adenosine receptor A30404
Replicase polyprotein 1ab0112
Androgen receptor010111
Alpha-1B adrenergic receptor0606
Glutamate receptor 29009
Glycine receptor subunit beta0606
Glycine receptor subunit alpha-20606
Glycine receptor subunit alpha-30606
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0606
Sodium-dependent dopamine transporter 0404
TAR DNA-binding protein 437007
Inositol hexakisphosphate kinase 13003
cytochrome P450 2C9, partial3003
ATP-dependent phosphofructokinase6006
thyroid hormone receptor beta isoform a2002
nuclear factor erythroid 2-related factor 2 isoform 26006
Mineralocorticoid receptor 0448
Mineralocorticoid receptor0202
Solute carrier organic anion transporter family member 1A10102
Guanine nucleotide-binding protein G2002
Chain A, HADH2 protein6006
Chain B, HADH2 protein6006
interleukin 82002
RAR-related orphan receptor gamma120012
Smad32002
aldehyde dehydrogenase 1 family, member A14004
estrogen receptor 2 (ER beta)7007
regulator of G-protein signaling 43003
cytochrome P450 family 3 subfamily A polypeptide 47007
nonstructural protein 12002
peroxisome proliferator-activated receptor delta100010
peroxisome proliferator activated receptor gamma100010
Histone H2A.x6006
Caspase-73003
Bloom syndrome protein isoform 14004
peripheral myelin protein 22 isoform 15005
potassium voltage-gated channel subfamily H member 2 isoform d3003
caspase-33003
thyroid hormone receptor beta isoform 2110011
importin subunit beta-1 isoform 12002
mitogen-activated protein kinase 13003
nuclear factor NF-kappa-B p105 subunit isoform 11001
snurportin-12002
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase iota isoform a (long)4004
nuclear receptor ROR-gamma isoform 13003
peripheral myelin protein 225005
muscleblind-like protein 1 isoform 12002
neuropeptide S receptor isoform A1001
Beta-glucuronidase0202
Cholinesterase0101
Aromatase0306
Gastrin/cholecystokinin type B receptor0001
Testosterone 17-beta-dehydrogenase 30202
Alpha-synuclein2103
Nuclear receptor ROR-gamma3003
glucocerebrosidase2002
DNA polymerase kappa isoform 12002
Atrial natriuretic peptide receptor 30101
Type-1A angiotensin II receptor 0213
Type-1 angiotensin II receptor0011
Type-1B angiotensin II receptor0202
Type-1 angiotensin II receptor0224
Type-2 angiotensin II receptor0202
Type-2 angiotensin II receptor0202
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase7007
phosphopantetheinyl transferase5005
NFKB1 protein, partial2002
GLS protein3003
thyroid stimulating hormone receptor2002
alpha-galactosidase2002
cytochrome P450 2C19 precursor2002
flap endonuclease 14004
muscarinic acetylcholine receptor M13003
lethal factor (plasmid)2002
Cytochrome P450 3A40405
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
Chain A, angiotensin converting enzyme0101
Chain A, angiotensin converting enzyme0101
Chain A, 2-oxoglutarate Oxygenase3003
15-lipoxygenase, partial3003
Thrombopoietin2002
thioredoxin glutathione reductase1001
Metallo-beta-lactamase type 20112
M-phase phosphoprotein 84004
transient receptor potential cation channel subfamily V member 11001
ATP-binding cassette sub-family C member 30808
Multidrug resistance-associated protein 40809
Bile salt export pump010010
Prothrombin0102
Renin0101
Neprilysin0101
Neprilysin0101
Leukotriene A-4 hydrolase0213
EEF1AKMT4-ECE2 readthrough transcript protein0101
Angiotensin-converting enzyme 0213
Angiotensin-converting enzyme0708
Leukotriene A-4 hydrolase0101
Thymidine phosphorylase0011
Prostaglandin G/H synthase 10202
Prostaglandin G/H synthase 20202
Endothelin-converting enzyme 10101
Succinyl-diaminopimelate desuccinylase0202
Angiotensin-converting enzyme0213
Solute carrier family 15 member 10101
Beta-lactamase TEM0101
Mu-type opioid receptor0011
Beta-lactamase 0203
Canalicular multispecific organic anion transporter 109010
Beta-lactamase 0202
Angiotensin-converting enzyme 2 0112
Beta-lactamase class B VIM-2 0112
GALC protein5005
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
IDH15005
thyroid stimulating hormone receptor7007
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a8008
heat shock protein beta-16006
serine/threonine-protein kinase mTOR isoform 12002
cytochrome P450 3A4 isoform 14004
Gamma-aminobutyric acid receptor subunit pi4004
Solute carrier family 22 member 20202
Solute carrier family 22 member 1 0202
Solute carrier family 22 member 30101
Solute carrier family 22 member 30202
Gamma-aminobutyric acid receptor subunit beta-14004
Gamma-aminobutyric acid receptor subunit delta4004
Gamma-aminobutyric acid receptor subunit gamma-24004
Gamma-aminobutyric acid receptor subunit alpha-54004
Gamma-aminobutyric acid receptor subunit alpha-34004
Gamma-aminobutyric acid receptor subunit gamma-14004
Gamma-aminobutyric acid receptor subunit alpha-24004
Gamma-aminobutyric acid receptor subunit alpha-44004
Gamma-aminobutyric acid receptor subunit gamma-34004
Gamma-aminobutyric acid receptor subunit alpha-64004
C-8 sterol isomerase0202
Gamma-aminobutyric acid receptor subunit alpha-14004
Gamma-aminobutyric acid receptor subunit beta-34004
Gamma-aminobutyric acid receptor subunit beta-24004
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0314
Solute carrier family 22 member 10202
GABA theta subunit4004
Sigma non-opioid intracellular receptor 10303
Gamma-aminobutyric acid receptor subunit epsilon4004
Solute carrier family 22 member 20303
endonuclease IV1001
dopamine D1 receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)7007
atrial natriuretic peptide receptor 1 precursor1001
Potassium voltage-gated channel subfamily A member 10011
Multidrug and toxin extrusion protein 10202
hypoxia-inducible factor 1 alpha subunit5005
cytochrome P450 2D63003
aryl hydrocarbon receptor3003
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0404
G-protein coupled bile acid receptor 10022
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
USP1 protein, partial3003
nuclear receptor subfamily 1, group I, member 35005
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
Chain A, Sex Hormone-Binding Globulin0011
glp-1 receptor, partial3003
thyrotropin-releasing hormone receptor2002
vitamin D3 receptor isoform VDRA3003
transcriptional regulator ERG isoform 34004
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0416
Glucocorticoid receptor0213
Sex hormone-binding globulin0101
Androgen receptor0428
Androgen receptor0112
Cannabinoid receptor 20101
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
ALK tyrosine kinase receptor0101
Endothelin-1 receptor0101
caspase 7, apoptosis-related cysteine protease3003
67.9K protein3003
caspase-33003
LMP1 [Human herpesvirus 4]0001
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0202
transactivating tegument protein VP16 [Human herpesvirus 1]0202
nuclear receptor coactivator 3 isoform a0202
Regulatory protein E20011
Cellular tumor antigen p537007
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10518
DNA topoisomerase 10102
DNA topoisomerase 2-alpha0117
Cytochrome P450 2C9 0202
Polyunsaturated fatty acid lipoxygenase ALOX150101
DNA topoisomerase 20001
ATP-dependent translocase ABCB10101
UDP-glucuronosyltransferase 1A1 0001
Serum paraoxonase/arylesterase 10202
Glutamate receptor ionotropic, NMDA 1 0001
Caspase-30101
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
DNA topoisomerase 2-alpha 0001
DNA topoisomerase 2-beta0118
Glutamate receptor ionotropic, NMDA 2D0001
Tubulin beta-2B chain0101
Integrase 0101
Similar to alpha-tubulin isoform 1 0101
Similar to alpha-tubulin isoform 1 0101
Glutamate receptor ionotropic, NMDA 3B0001
ATPase family AAA domain-containing protein 54004
Ataxin-24004
Solute carrier organic anion transporter family member 1B30203
Glutamate receptor ionotropic, NMDA 3A0001
Chain A, Glutamine Binding Protein0011
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Carbonic anhydrase 10001
Carbonic anhydrase 20012
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Carbonic anhydrase-like protein, putative0001
Amino acid transporter0101
Chain A, Beta-lactamase3003
EWS/FLI fusion protein3003
ATAD5 protein, partial2002
Chymotrypsinogen A0101
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, Ferritin light chain2002
acid sphingomyelinase1001
ClpP1001
Thymidylate synthase 0101
Thymidylate synthase 0101
cellular tumor antigen p53 isoform a2002
polyunsaturated fatty acid lipoxygenase ALOX121001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
DNA polymerase beta1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
caspase-1 isoform alpha precursor1001
Toll-like receptor 40101
Fatty-acid amide hydrolase 10101
Bile salt export pump0101
ATP-binding cassette sub-family C member 30102
Dihydrofolate reductase0203
Dihydrofolate reductase0203
Dihydrofolate reductase 0101
Dihydrofolate reductase0101
Dihydrofolate reductase0101
Dihydrofolate reductase0203
Thymidylate synthase0101
Tyrosine-protein kinase ABL10011
Thymidylate synthase0202
Integrin beta-32002
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Thymidylate synthase0202
Integrin alpha-IIb2002
5-hydroxytryptamine receptor 2C0506
High mobility group protein B10011
Dihydrofolate reductase0101
Thymidylate synthase0101
Dihydrofolate reductase0224
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Folate receptor beta0101
5-hydroxytryptamine receptor 2A0404
Cytochrome P450 11B1, mitochondrial 0101
Folate receptor alpha0101
Dihydrofolate reductase0202
Histidine decarboxylase0101
Trifunctional purine biosynthetic protein adenosine-30101
Cyclin-dependent kinase 20011
Bifunctional purine biosynthesis protein ATIC0202
Multidrug resistance-associated protein 1 0001
Delta-type opioid receptor0101
Mu-type opioid receptor0101
Kappa-type opioid receptor0101
Reduced folate transporter0202
Folylpolyglutamate synthase, mitochondrial0103
6-phosphogluconate dehydrogenase, decarboxylating0101
Caspase-71001
Spike glycoprotein4015
Solute carrier organic anion transporter family member 1A30001
Dihydrofolate reductase0101
Pteridine reductase 10101
Folylpolyglutamate synthase, mitochondrial0103
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Solute carrier family 22 member 60001
Canalicular multispecific organic anion transporter 10102
Trifunctional purine biosynthetic protein adenosine-30101
Solute carrier family 22 member 200101
Dihydrofolate reductase 0101
Solute carrier family 22 member 80001
Solute carrier family 22 member 60101
Dihydrofolate reductase0101
ATP-binding cassette sub-family C member 110001
Proton-coupled folate transporter0101
Multidrug resistance associated protein0102
Solute carrier family 22 member 110001
Protein-arginine deiminase type-40101
Broad substrate specificity ATP-binding cassette transporter ABCG20001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
luciferase0001
Fatty acid-binding protein, liver0101
Estrogen receptor0416
Glucocorticoid receptor0011
Glutamine synthetase0011
Histamine H1 receptor0112
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0415
Lanosterol 14-alpha demethylase0101
Chain A, JmjC domain-containing histone demethylation protein 3A2002
cytochrome P450 2D6 isoform 12002
Voltage-dependent L-type calcium channel subunit alpha-1F0202
5-hydroxytryptamine receptor 40404
Albumin0011
Muscarinic acetylcholine receptor M20404
Muscarinic acetylcholine receptor M40404
5-hydroxytryptamine receptor 1A0224
Muscarinic acetylcholine receptor M50404
Alpha-2A adrenergic receptor0505
Cytochrome P450 2D60101
Muscarinic acetylcholine receptor M10404
D(2) dopamine receptor0505
Alpha-2B adrenergic receptor0505
Beta-1 adrenergic receptor0101
Alpha-2C adrenergic receptor0303
D0202
D(3) dopamine receptor0101
5-hydroxytryptamine receptor 1A0404
Alpha-2B adrenergic receptor0101
Muscarinic acetylcholine receptor M30505
D(1A) dopamine receptor0505
D(4) dopamine receptor0404
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Glycine receptor subunit alpha-10011
Alpha-1D adrenergic receptor0303
Sodium-dependent dopamine transporter0101
Histamine H2 receptor0404
Alpha-1D adrenergic receptor0506
5-hydroxytryptamine receptor 2A0505
5-hydroxytryptamine receptor 2C0505
5-hydroxytryptamine receptor 1B0404
5-hydroxytryptamine receptor 2B0303
Sodium-dependent serotonin transporter0303
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 2C 0101
5-hydroxytryptamine receptor 70101
Alpha-1A adrenergic receptor0304
5-hydroxytryptamine receptor 2A0101
Histamine H1 receptor0303
Alpha-1B adrenergic receptor0203
D(3) dopamine receptor0505
5-hydroxytryptamine receptor 2B0404
5-hydroxytryptamine receptor 60404
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0202
D(2) dopamine receptor0101
D(2) dopamine receptor0303
Voltage-dependent L-type calcium channel subunit alpha-1D 0202
5-hydroxytryptamine receptor 2B0101
Potassium voltage-gated channel subfamily H member 20505
Voltage-dependent L-type calcium channel subunit alpha-1S0202
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Sodium channel protein type 5 subunit alpha0202
Transporter0101
5-hydroxytryptamine receptor 1A0101
Nuclear receptor subfamily 3 group C member 3 0404
Multidrug and toxin extrusion protein 20101
Transporter0101
Histamine H3 receptor0101
Fumarate hydratase2002
polyprotein2002
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Alpha-1A adrenergic receptor0101
Alpha-1B adrenergic receptor0101
Potassium voltage-gated channel subfamily A member 50101
5-hydroxytryptamine receptor 1B0101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0101
Sodium channel protein type 7 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Sodium channel protein type 11 subunit alpha0101
Sodium channel protein type 8 subunit alpha0101
Sodium channel protein type 10 subunit alpha0101
Chain A, CES1 protein0101
PPM1D protein1001
apical membrane antigen 1, AMA11001
DNA polymerase III, partial1001
bromodomain adjacent to zinc finger domain 2B1001
Spike glycoprotein0011
Replicase polyprotein 1ab0011
NPC intracellular cholesterol transporter 1 precursor1001
interferon gamma precursor0001
D(1A) dopamine receptor1001
ubiquitin-conjugating enzyme E2 N0101
ras-related protein Rab-9A1001
streptokinase A precursor0011
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Transmembrane protease serine 20011
Serine/threonine-protein kinase D30101
Epidermal growth factor receptor0101
Lysosomal acid glucosylceramidase0011
Receptor tyrosine-protein kinase erbB-20101
Protein kinase C gamma type0101
Protein kinase C alpha type0101
Protein kinase C beta type0101
Estrogen receptor0012
Tyrosine-protein kinase Lck0101
Tyrosine-protein kinase Fyn0101
Procathepsin L0011
Aldo-keto reductase family 1 member B10202
Beta-1 adrenergic receptor0202
Protein kinase C delta type0101
Protein kinase C epsilon type0101
Protein kinase C zeta type0101
Polyunsaturated fatty acid 5-lipoxygenase0101
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0011
Steroid hormone receptor ERR10101
Transcriptional activator protein LuxR0101
Beta-3 adrenergic receptor0202
Protein kinase C alpha type0101
Cytochrome P450 2B60101
Substance-K receptor0202
UDP-glucuronosyltransferase 1A40001
Sodium-dependent noradrenaline transporter 0202
Thromboxane-A synthase 0101
Protein kinase C eta type0101
Substance-P receptor0202
Adenosine receptor A2a0202
B2 bradykinin receptor0202
Adenosine receptor A10202
Melanocortin receptor 40202
Melanocortin receptor 50202
Mu-type opioid receptor0202
Delta-type opioid receptor0202
Kappa-type opioid receptor0202
Protein kinase C iota type0101
Melanocortin receptor 30202
Histamine H2 receptor1001
D(1A) dopamine receptor1001
Estrogen-related receptor gamma0101
Protein kinase C gamma type0101
Protein kinase C beta type0101
Phospholipase D1 0101
Protein kinase C epsilon type0101
Protein kinase C theta type0101
Protein kinase C zeta type0101
Protein kinase C delta type0101
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform0101
Platelet-activating factor acetylhydrolase0101
Phospholipase D10101
Serine/threonine-protein kinase D10101
Estrogen receptor beta0012
Protein kinase C eta type0101
Emopamil-binding protein-like0101
7-dehydrocholesterol reductase0112
Protein kinase C theta type0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]