Page last updated: 2024-09-28

46, XY Gonadal Dysgenesis

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.

Synonyms(11)

Synonym
46, XY Gonadal Sex Reversal
46,XY Complete Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XY
Sex Reversal, Gonadal, 46, XY
Pure Gonadal Dysgenesis 46,XY
Complete Gonadal Dysgenesis, 46, XY
Pure Gonadal Dysgenesis, 46, XY
Gonadal Dysgenesis, 46, XY
XY Pure Gonadal Dysgenesis
Swyer Syndrome
46, XY Gonadal Dysgenesis

Research Excerpts

Overview

ExcerptReference
"Swyer syndrome is characterized by a higher risk of developing genital malignancies."( Balcerska, A; Iżycka-Świeszewska, E; Kobierska-Gulida, G; Stachowicz-Stencel, T; Synakiewicz, A, 2011)

Research

Studies (114)

TimeframeStudies, This Condition (%)All Conditions %
pre-199023 (20.18)23.3326
1990's15 (13.16)12.5806
2000's23 (20.18)18.1394
2010's44 (38.60)28.8240
2020's9 (7.89)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
glycine0low10
melatonin0low20
calmidazolium0low10
ifosfamide0low10
khellin0low10
thyroxine0low10
norethindrone acetate0low10
estrone0low10
dehydroepiandrosterone0low20
alanine0low20
serine0low20
ethinyl estradiol0low10
tyrosine0low20
leucine0low10
androstenedione0low70
methionine0low10
phenylalanine0low10
norethindrone0low10
17-alpha-hydroxyprogesterone0low40
asparagine0low10
medroxyprogesterone acetate0low10
threonine0low10
mestranol0low20
tryptophan0low10
isoleucine0low10
arginine0low40
chlormadinone acetate0low10
nandrolone0low10
medroxyprogesterone0low10
dihydrotestosterone0low100
dehydroepiandrosterone sulfate0low10
levonorgestrel0low10
boldenone0low10
ethinyl estradiol-norgestrel combination0low10
etoposide0low30
methyldopa0low10
6-sulfatoxymelatonin0low10
testosterone undecanoate0low10
(s-dinitrophenyl)-6-mercaptopurine riboside triphosphate0low10
mibolerone0low10
decitabine0low10
propylthiouracil0low10
oligonucleotides0low10
menotropins0low10
sodium ethylxanthate0low10
muramidase0low10
guanine0low10

Protein Targets (480)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase5005
pregnane X receptor3003
SMAD family member 2100010
SMAD family member 3100010
TDP1 protein200020
GLI family zinc finger 3210021
Microtubule-associated protein tau6006
AR protein210021
progesterone receptor170017
glucocorticoid receptor [Homo sapiens]190019
retinoic acid nuclear receptor alpha variant 1180018
retinoid X nuclear receptor alpha140014
estrogen-related nuclear receptor alpha200020
farnesoid X nuclear receptor100010
pregnane X nuclear receptor190019
estrogen nuclear receptor alpha250025
G110011
vitamin D (1,25- dihydroxyvitamin D3) receptor140014
arylsulfatase A4004
euchromatic histone-lysine N-methyltransferase 2110011
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a140014
activating transcription factor 66006
nuclear receptor subfamily 1, group I, member 23003
chromobox protein homolog 1160016
nuclear factor erythroid 2-related factor 2 isoform 1180018
geminin150015
survival motor neuron protein isoform d4004
histone acetyltransferase KAT2A isoform 14004
lamin isoform A-delta10140014
Voltage-dependent calcium channel gamma-2 subunit9009
Interferon beta130013
HLA class I histocompatibility antigen, B alpha chain 110011
Glucocorticoid receptor015117
Sex hormone-binding globulin01910
Glycine receptor subunit alpha-1014014
Corticosteroid-binding globulin0606
Adenosine receptor A30404
Replicase polyprotein 1ab0101
Androgen receptor025126
Alpha-1B adrenergic receptor0404
Glutamate receptor 29009
Glycine receptor subunit beta014014
Glycine receptor subunit alpha-2014014
Glycine receptor subunit alpha-3014014
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0505
Sodium-dependent dopamine transporter 0404
TAR DNA-binding protein 436006
Inositol hexakisphosphate kinase 1110011
cytochrome P450 2C9, partial110011
ATP-dependent phosphofructokinase7007
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE7007
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma180018
nuclear receptor subfamily 1, group I, member 3140014
cytochrome P450 family 3 subfamily A polypeptide 4110011
nuclear factor erythroid 2-related factor 2 isoform 26006
heat shock protein beta-15005
importin subunit beta-1 isoform 15005
snurportin-15005
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 13003
Bile salt export pump012012
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Xanthine dehydrogenase/oxidase0101
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 55005
Ataxin-27007
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Carbonic anhydrase 10005
Carbonic anhydrase 20005
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0318
Proton-coupled amino acid transporter 10506
Adenosine deaminase0001
Carbonic anhydrase 40001
Chain A, farnesyl pyrophosphate synthase0101
Geranylgeranyl pyrophosphate synthase0101
Farnesyl pyrophosphate synthase0202
Acetylcholinesterase0202
Hypoxanthine-guanine phosphoribosyltransferase0101
Farnesyl pyrophosphate synthase 0101
Farnesyl pyrophosphate synthase 0101
Chain A, HADH2 protein5005
Chain B, HADH2 protein5005
interleukin 86006
Smad32002
aldehyde dehydrogenase 1 family, member A17007
estrogen receptor 2 (ER beta)110011
regulator of G-protein signaling 44004
nonstructural protein 13003
peroxisome proliferator-activated receptor delta120012
peroxisome proliferator activated receptor gamma120012
Histone H2A.x9009
Caspase-72002
Bloom syndrome protein isoform 16006
peripheral myelin protein 22 isoform 15005
potassium voltage-gated channel subfamily H member 2 isoform d3003
caspase-32002
thyroid hormone receptor beta isoform 2170017
mitogen-activated protein kinase 13003
nuclear factor NF-kappa-B p105 subunit isoform 11001
DNA polymerase iota isoform a (long)9009
nuclear receptor ROR-gamma isoform 15005
peripheral myelin protein 227007
muscleblind-like protein 1 isoform 12002
neuropeptide S receptor isoform A3003
Beta-glucuronidase0202
Cholinesterase0303
Aromatase0609
Gastrin/cholecystokinin type B receptor0001
Testosterone 17-beta-dehydrogenase 30202
Alpha-synuclein3205
Nuclear receptor ROR-gamma5005
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase7007
phosphopantetheinyl transferase7007
NFKB1 protein, partial2002
GLS protein4004
thyroid stimulating hormone receptor4004
alpha-galactosidase2002
cytochrome P450 2C19 precursor3003
flap endonuclease 13003
muscarinic acetylcholine receptor M13003
lethal factor (plasmid)3003
Cytochrome P450 3A40304
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
Neutral amino acid transporter A0202
Neutral amino acid transporter B(0)0202
Carbonic anhydrase-like protein, putative0004
Amino acid transporter0202
ATAD5 protein, partial7007
Fumarate hydratase2002
USP1 protein, partial5005
PPM1D protein2002
EWS/FLI fusion protein6006
polyprotein2002
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)2002
hexokinase-4 isoform 12002
NPC intracellular cholesterol transporter 1 precursor1001
glucokinase regulatory protein2002
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
ras-related protein Rab-9A2002
serine/threonine-protein kinase mTOR isoform 12002
D(1A) dopamine receptor2002
Chain A, Putative fructose-1,6-bisphosphate aldolase3003
Chain A, Ferritin light chain2002
Chain A, Cruzipain2002
thioredoxin glutathione reductase3003
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)3003
bromodomain adjacent to zinc finger domain 2B3003
thyroid stimulating hormone receptor9009
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a9009
v-jun sarcoma virus 17 oncogene homolog (avian)9009
vitamin D3 receptor isoform VDRA4004
thyroid hormone receptor beta isoform a5005
parathyroid hormone/parathyroid hormone-related peptide receptor precursor4004
transcriptional regulator ERG isoform 34004
Cellular tumor antigen p539009
Cytochrome P450 2C190404
Spike glycoprotein7007
Chain A, Beta-lactamase6006
67.9K protein3003
exodeoxyribonuclease V subunit RecD0101
exodeoxyribonuclease V subunit RecB0101
exodeoxyribonuclease V subunit RecC0101
ATP-binding cassette sub-family C member 30808
Multidrug resistance-associated protein 409010
DNA (cytosine-5)-methyltransferase 10101
Canalicular multispecific organic anion transporter 109010
Histone-lysine N-methyltransferase EHMT20101
hypoxia-inducible factor 1 alpha subunit5005
cytochrome P450 2D64004
aryl hydrocarbon receptor5005
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
G-protein coupled bile acid receptor 10033
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Solute carrier organic anion transporter family member 1A40002
Solute carrier organic anion transporter family member 1A50002
Steryl-sulfatase0102
Multidrug resistance-associated protein 1 0001
Solute carrier organic anion transporter family member 1A10102
Solute carrier organic anion transporter family member 1A20002
Solute carrier organic anion transporter family member 1A30002
ATP-binding cassette sub-family C member 110001
Solute carrier organic anion transporter family member 1B30203
Solute carrier family 22 member 110001
Solute carrier organic anion transporter family member 1A10001
Solute carrier organic anion transporter family member 1B20001
Solute carrier organic anion transporter family member 1B10002
Chain A, Sex Hormone-Binding Globulin0011
glp-1 receptor, partial3003
thyrotropin-releasing hormone receptor1001
cytochrome P450 3A4 isoform 17007
Gamma-aminobutyric acid receptor subunit pi7007
Plasma kallikrein0104
Progesterone receptor0101
Progesterone receptor05510
Glucocorticoid receptor0101
Mineralocorticoid receptor 0202
Sex hormone-binding globulin0101
Androgen receptor04410
Gamma-aminobutyric acid receptor subunit beta-17007
Gamma-aminobutyric acid receptor subunit delta7007
Gamma-aminobutyric acid receptor subunit gamma-27007
Androgen receptor0123
Gamma-aminobutyric acid receptor subunit alpha-57007
Gamma-aminobutyric acid receptor subunit alpha-37007
Mineralocorticoid receptor0101
Gamma-aminobutyric acid receptor subunit gamma-17007
Gamma-aminobutyric acid receptor subunit alpha-27007
Gamma-aminobutyric acid receptor subunit alpha-47007
Gamma-aminobutyric acid receptor subunit gamma-37007
Gamma-aminobutyric acid receptor subunit alpha-67007
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Gamma-aminobutyric acid receptor subunit alpha-17007
Gamma-aminobutyric acid receptor subunit beta-37007
Gamma-aminobutyric acid receptor subunit beta-27007
Muscarinic acetylcholine receptor0101
GABA theta subunit7007
Neuropeptide FF receptor 20001
Gamma-aminobutyric acid receptor subunit epsilon7007
ALK tyrosine kinase receptor0101
endonuclease IV2002
GALC protein4004
urokinase-type plasminogen activator precursor3003
plasminogen precursor3003
urokinase plasminogen activator surface receptor precursor3003
Rap guanine nucleotide exchange factor 34004
Estrogen receptor09313
Polyunsaturated fatty acid lipoxygenase ALOX150404
17-beta-hydroxysteroid dehydrogenase type 10203
Sodium-dependent serotonin transporter0808
Mu-type opioid receptor0112
5-hydroxytryptamine receptor 2B0202
Mu-type opioid receptor0011
Inositol monophosphatase 11001
Cytochrome P450 1B10303
Estrogen receptor beta0337
Ghrelin O-acyltransferase0101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Luciferase3003
caspase 7, apoptosis-related cysteine protease3003
caspase-33003
IDH12002
lysosomal alpha-glucosidase preproprotein2002
Vpr1001
Solute carrier family 22 member 20101
Cytochrome P450 2B10101
Aldo-keto reductase family 1 member B10404
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Cytochrome P450 2B60101
UDP-glucuronosyltransferase 1A1 0204
Sodium-dependent noradrenaline transporter 0404
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
Multidrug and toxin extrusion protein 10101
LMP1 [Human herpesvirus 4]0001
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0101
transactivating tegument protein VP16 [Human herpesvirus 1]0101
nuclear receptor coactivator 3 isoform a0101
Prothrombin0001
Regulatory protein E20011
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10203
DNA topoisomerase 10102
DNA topoisomerase 2-alpha0117
Cytochrome P450 2C9 0202
DNA topoisomerase 20001
ATP-dependent translocase ABCB10101
Serum paraoxonase/arylesterase 10202
Caspase-30101
Glutamate receptor ionotropic, NMDA 2A 0217
Glutamate receptor ionotropic, NMDA 2B0217
Glutamate receptor ionotropic, NMDA 2C0217
DNA topoisomerase 2-alpha 0001
DNA topoisomerase 2-beta0118
Glutamate receptor ionotropic, NMDA 2D0217
Tubulin beta-2B chain0101
Integrase 0101
Similar to alpha-tubulin isoform 1 0101
Similar to alpha-tubulin isoform 1 0101
Glutamate receptor ionotropic, NMDA 3B0217
Glutamate receptor ionotropic, NMDA 3A0217
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Large neutral amino acids transporter small subunit 10708
Serine racemase0101
Olfactory receptor 51E20011
Sodium- and chloride-dependent glycine transporter 20101
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
cytochrome P450 2D6 isoform 12002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
Cytochrome P450 1A10303
Cytochrome P450 1A20303
Cytochrome P450 2D60202
Chain A, AMINOPEPTIDASE0202
Chain A, AMINOPEPTIDASE0202
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0303
Intestinal-type alkaline phosphatase0303
Phospholipase A-2-activating protein0303
DNA polymerase beta2002
PINK12002
Parkin2002
Histamine H2 receptor0202
5-hydroxytryptamine receptor 1B0101
Aldo-keto reductase family 1 member C30101
Aldo-keto reductase family 1 member C2 0101
Guanine nucleotide-binding protein G1001
Aldo-keto reductase family 1 member C10101
Chain A, 2-oxoglutarate Oxygenase4004
ClpP1001
M-phase phosphoprotein 83003
Cytochrome P450 1A2 0101
Myeloperoxidase0303
Cytochrome P450 2C11 0101
Ribosyldihydronicotinamide dehydrogenase [quinone]0202
Metabotropic glutamate receptor 10101
Acetylcholinesterase 0101
Nociceptin receptor0101
Melatonin receptor type 1A0213
Melatonin receptor type 1C0011
Melatonin receptor type 1A0112
Melatonin receptor type 1B0213
Melatonin receptor type 1C0112
Melatonin receptor type 1B0112
Nuclear factor erythroid 2-related factor 20001
Palmitoleoyl-protein carboxylesterase NOTUM0101
Carboxylic ester hydrolase 0101
Histamine H3 receptor0101
cystic fibrosis transmembrane conductance regulator ATP-binding cassette sub-family C member 70001
Cannabinoid receptor 10202
Chain A, Methionyl-tRNA synthetase0011
Chain A, Methionyl-tRNA synthetase0011
Chain A, Aminopeptidase0101
Chain A, Methionine aminopeptidase0101
S-ribosylhomocysteine lyase0101
Adenylate cyclase type 50001
S-adenosylmethionine synthase isoform type-10001
S-adenosylmethionine synthase isoform type-20001
Fatty acid synthase0101
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
15-lipoxygenase, partial1001
Caspase 6, apoptosis-related cysteine peptidase0001
apical membrane antigen 1, AMA12002
hypothetical protein, conserved1001
pyruvate kinase1001
estrogen receptor beta isoform 10101
peptidyl-prolyl cis-trans isomerase NIMA-interacting 13003
DNA polymerase eta isoform 12002
DNA polymerase kappa isoform 13003
Bile salt export pump0101
Epidermal growth factor receptor0101
Tyrosine-protein kinase Fyn0101
Cystathionine gamma-lyase0101
Solute carrier family 15 member 10101
phosphoglycerate kinase1001
2,3-bisphosphoglycerate-independent phosphoglycerate mutase1001
glucocerebrosidase1001
Solute carrier family 22 member 1 0101
5-hydroxytryptamine receptor 70101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial0101
Estrogen receptor0011
Estrogen receptor beta0011
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Carbonic anhydrase 120003
Carbonic anhydrase 30003
Alkaline phosphatase, tissue-nonspecific isozyme 0101
Intestinal-type alkaline phosphatase0101
5'-nucleotidase0101
Carbonic anhydrase 40003
Carbonic anhydrase 60003
Adenosine receptor A10002
Adenosine receptor A2a0002
Carbonic anhydrase 5A, mitochondrial0003
Carbonic anhydrase0003
Carbonic anhydrase 70003
Carbonic anhydrase0003
E3 ubiquitin-protein ligase XIAP0101
SLC16A10 protein0003
Carbonic anhydrase 90003
Carbonic anhydrase 0003
Carbonic anhydrase0003
Carbonic anhydrase0003
Large neutral amino acids transporter small subunit 1 0101
Carbonic anhydrase 0003
Carbonic anhydrase 130001
Monocarboxylate transporter 100003
Carbonic anhydrase 150003
Carbonic anhydrase 130002
Carbonic anhydrase 140003
Carbonic anhydrase 5B, mitochondrial0003
NADH-cytochrome b5 reductase 3 0101
Thyroid peroxidase0101
Taste receptor type 2 member 380012
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Cholinesterase0101
Chain X, Thyroid hormone receptor beta-10011
Chain X, Thyroid hormone receptor beta-10011
serine/threonine-protein kinase PLK11001
Nuclear receptor subfamily 1 group I member 20011
Transthyretin0102
Thyroid hormone receptor alpha0011
Thyroid hormone receptor beta0011
Proliferating cell nuclear antigen0101
Retinoic acid receptor RXR-alpha0022
Peroxisome proliferator-activated receptor gamma0022
Malate dehydrogenase, mitochondrial0101
Solute carrier organic anion transporter family member 4C10101
Monocarboxylate transporter 80001
Bile acid receptor0101
Solute carrier organic anion transporter family member 1C10001
Chain A, Trp Rna-binding Attenuation Protein0011
Chain K, Trp Rna-binding Attenuation Protein0011
Chain B, tryptophanyl-tRNA synthetase0011
Chain C, Tryptophanyl-tRNA synthetase II0011
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Dihydrofolate reductase0202
Stromelysin-10101
Indoleamine 2,3-dioxygenase 10102
Substance-P receptor0101
Tryptophan 2,3-dioxygenase0102
Uracil nucleotide/cysteinyl leukotriene receptor0101
Tryprostatin B synthase0001
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Polyphenol oxidase 20001
Tubulin--tyrosine ligase0101
Taste receptor type 2 member 140001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]