Page last updated: 2024-09-27

Gonadal Dysgenesis, 46, XX

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.

Synonyms(5)

Synonym
Gonadal Dysgenesis, 46,XX
Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, XX Type
Gonadal Dysgenesis, 46, XX

Research

Studies (17)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's8 (47.06)18.1394
2010's8 (47.06)28.8240
2020's1 (5.88)9.53
DrugIndicatedRelationship StrengthStudiesTrials
dehydroepiandrosterone0low10
serine0low10
leucine0low10
17-alpha-hydroxyprogesterone0low10
medroxyprogesterone acetate0medium11
dydrogesterone0low10
testosterone enanthate0low10
dihydrotestosterone0low10
cortodoxone0low10
cosyntropin0low10

Protein Targets (174)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase2002
pregnane X receptor2002
SMAD family member 23003
SMAD family member 33003
TDP1 protein5005
GLI family zinc finger 36006
Microtubule-associated protein tau1001
AR protein7007
progesterone receptor7007
glucocorticoid receptor [Homo sapiens]6006
retinoic acid nuclear receptor alpha variant 15005
retinoid X nuclear receptor alpha7007
estrogen-related nuclear receptor alpha7007
farnesoid X nuclear receptor4004
pregnane X nuclear receptor6006
estrogen nuclear receptor alpha5005
G3003
vitamin D (1,25- dihydroxyvitamin D3) receptor5005
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 23003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a6006
activating transcription factor 61001
nuclear receptor subfamily 1, group I, member 23003
chromobox protein homolog 14004
nuclear factor erythroid 2-related factor 2 isoform 16006
geminin5005
survival motor neuron protein isoform d2002
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta103003
Voltage-dependent calcium channel gamma-2 subunit3003
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 3003
Glucocorticoid receptor0517
Sex hormone-binding globulin0156
Glycine receptor subunit alpha-10404
Corticosteroid-binding globulin0404
Adenosine receptor A30202
Replicase polyprotein 1ab0101
Androgen receptor0617
Alpha-1B adrenergic receptor0202
Glutamate receptor 23003
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 432002
Inositol hexakisphosphate kinase 13003
cytochrome P450 2C9, partial3003
ATP-dependent phosphofructokinase1001
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
endonuclease IV1001
thioredoxin reductase1001
phosphopantetheinyl transferase2002
ATAD5 protein, partial3003
nuclear receptor subfamily 1, group I, member 34004
bromodomain adjacent to zinc finger domain 2B1001
peroxisome proliferator activated receptor gamma4004
Bloom syndrome protein isoform 11001
peripheral myelin protein 22 isoform 11001
nuclear factor erythroid 2-related factor 2 isoform 23003
thyroid hormone receptor beta isoform 26006
cytochrome P450 3A4 isoform 13003
muscarinic acetylcholine receptor M12002
Gamma-aminobutyric acid receptor subunit pi3003
Gamma-aminobutyric acid receptor subunit beta-13003
Gamma-aminobutyric acid receptor subunit delta3003
Gamma-aminobutyric acid receptor subunit gamma-23003
Gamma-aminobutyric acid receptor subunit alpha-53003
Gamma-aminobutyric acid receptor subunit alpha-33003
Gamma-aminobutyric acid receptor subunit gamma-13003
Gamma-aminobutyric acid receptor subunit alpha-23003
Gamma-aminobutyric acid receptor subunit alpha-43003
Gamma-aminobutyric acid receptor subunit gamma-33003
Gamma-aminobutyric acid receptor subunit alpha-63003
Gamma-aminobutyric acid receptor subunit alpha-13003
Gamma-aminobutyric acid receptor subunit beta-33003
Gamma-aminobutyric acid receptor subunit beta-23003
GABA theta subunit3003
Gamma-aminobutyric acid receptor subunit epsilon3003
hypoxia-inducible factor 1 alpha subunit2002
RAR-related orphan receptor gamma5005
estrogen receptor 2 (ER beta)3003
cytochrome P450 family 3 subfamily A polypeptide 43003
cytochrome P450 2D62002
peroxisome proliferator-activated receptor delta4004
aryl hydrocarbon receptor1001
thyroid stimulating hormone receptor2002
heat shock protein beta-12002
Beta-glucuronidase0101
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
Alpha-synuclein2002
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
interleukin 82002
glp-1 receptor, partial1001
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
v-jun sarcoma virus 17 oncogene homolog (avian)3003
Histone H2A.x2002
vitamin D3 receptor isoform VDRA1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
transcriptional regulator ERG isoform 32002
peripheral myelin protein 221001
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0325
Glucocorticoid receptor0101
Mineralocorticoid receptor 0202
Sex hormone-binding globulin0101
Androgen receptor04410
Aromatase0102
Androgen receptor0123
Mineralocorticoid receptor0101
Testosterone 17-beta-dehydrogenase 30101
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Nuclear receptor ROR-gamma2002
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
ALK tyrosine kinase receptor0101
67.9K protein1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
Cellular tumor antigen p532002
Spike glycoprotein2002
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Intestinal-type alkaline phosphatase0101
Large neutral amino acids transporter small subunit 10101
Proton-coupled amino acid transporter 10203
Phospholipase A-2-activating protein0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, Beta-lactamase1001
Chain A, Cruzipain1001
aldehyde dehydrogenase 1 family, member A11001
PINK11001
nonstructural protein 11001
Parkin1001
IDH11001
DNA polymerase iota isoform a (long)1001
neuropeptide S receptor isoform A1001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Estrogen receptor0112
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
Estrogen receptor beta0112
Canalicular multispecific organic anion transporter 10101
Chain A, 2-oxoglutarate Oxygenase1001
DNA polymerase kappa isoform 11001
lethal factor (plasmid)1001
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Neutral amino acid transporter A0101
Cholinesterase0101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
Luciferase1001
Caspase-71001
caspase-31001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]