Page last updated: 2024-09-28

Gonadal Dysgenesis, Mixed

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

Synonyms(2)

Synonym
Mixed Gonadal Dysgenesis
Gonadal Dysgenesis, Mixed

Research Excerpts

Research

Studies (20)

TimeframeStudies, This Condition (%)All Conditions %
pre-19901 (5.00)23.3326
1990's9 (45.00)12.5806
2000's6 (30.00)18.1394
2010's4 (20.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
estriol0low10
estrone0low20
17-alpha-hydroxyprogesterone0low10
testosterone enanthate0low10
dihydrotestosterone0low10
cetylpyridinium chloride anhydrous0low10
fludrocortisone0low10
cortisone0low10
estrone sulfate0low10

Protein Targets (186)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase2002
pregnane X receptor2002
SMAD family member 22002
SMAD family member 32002
TDP1 protein5005
GLI family zinc finger 36006
Microtubule-associated protein tau2002
AR protein7007
progesterone receptor7007
glucocorticoid receptor [Homo sapiens]7007
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha5005
estrogen-related nuclear receptor alpha4004
farnesoid X nuclear receptor2002
pregnane X nuclear receptor4004
estrogen nuclear receptor alpha7007
G2002
vitamin D (1,25- dihydroxyvitamin D3) receptor5005
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 22002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a4004
activating transcription factor 63003
nuclear receptor subfamily 1, group I, member 22002
chromobox protein homolog 14004
nuclear factor erythroid 2-related factor 2 isoform 14004
geminin4004
survival motor neuron protein isoform d3003
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta102002
Voltage-dependent calcium channel gamma-2 subunit4004
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 2002
Glucocorticoid receptor0708
Sex hormone-binding globulin0156
Glycine receptor subunit alpha-10606
Corticosteroid-binding globulin0505
Adenosine receptor A30202
Replicase polyprotein 1ab0101
Androgen receptor0718
Alpha-1B adrenergic receptor0202
Glutamate receptor 24004
Glycine receptor subunit beta0606
Glycine receptor subunit alpha-20606
Glycine receptor subunit alpha-30606
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0202
Sodium-dependent dopamine transporter 0202
TAR DNA-binding protein 433003
Inositol hexakisphosphate kinase 12002
cytochrome P450 2C9, partial2002
ATP-dependent phosphofructokinase1001
Chain A, Ferritin light chain1001
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma4004
USP1 protein, partial1001
caspase 7, apoptosis-related cysteine protease1001
estrogen receptor 2 (ER beta)4004
nuclear receptor subfamily 1, group I, member 32002
67.9K protein1001
peroxisome proliferator-activated receptor delta3003
peroxisome proliferator activated receptor gamma3003
caspase-31001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
thyrotropin-releasing hormone receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)3003
vitamin D3 receptor isoform VDRA2002
thyroid hormone receptor beta isoform 23003
heat shock protein beta-12002
mitogen-activated protein kinase 11001
nuclear receptor ROR-gamma isoform 11001
Cellular tumor antigen p531001
Caspase-20011
Inositol monophosphatase 12002
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
endonuclease IV2002
dopamine D1 receptor1001
thioredoxin reductase1001
GLS protein1001
aldehyde dehydrogenase 1 family, member A11001
regulator of G-protein signaling 41001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
peripheral myelin protein 22 isoform 12002
atrial natriuretic peptide receptor 1 precursor1001
flap endonuclease 11001
cytochrome P450 3A4 isoform 13003
M-phase phosphoprotein 81001
muscarinic acetylcholine receptor M11001
Gamma-aminobutyric acid receptor subunit pi3003
Bile salt export pump0303
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
Potassium voltage-gated channel subfamily A member 10011
GABA theta subunit3003
Multidrug and toxin extrusion protein 10101
Gamma-aminobutyric acid receptor subunit epsilon3003
Chain A, Sex Hormone-Binding Globulin0011
interleukin 81001
glp-1 receptor, partial1001
Histone H2A.x1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
transcriptional regulator ERG isoform 31001
peripheral myelin protein 221001
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0112
Glucocorticoid receptor0101
Mineralocorticoid receptor 0101
Sex hormone-binding globulin0101
Androgen receptor0226
Aromatase0203
Androgen receptor0112
Mineralocorticoid receptor0101
Testosterone 17-beta-dehydrogenase 30101
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Nuclear receptor ROR-gamma1001
G-protein coupled bile acid receptor 10011
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
ALK tyrosine kinase receptor0101
Estrogen receptor0416
Polyunsaturated fatty acid lipoxygenase ALOX150202
UDP-glucuronosyltransferase 2B70001
Sodium-dependent serotonin transporter0404
Alpha-synuclein0202
Solute carrier organic anion transporter family member 1A10304
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20011
UDP-glucuronosyltransferase 1A100001
ATAD5 protein, partial1001
NFKB1 protein, partial1001
GALC protein2002
nonstructural protein 11001
Bloom syndrome protein isoform 11001
hexokinase-4 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
Rap guanine nucleotide exchange factor 31001
Steryl-sulfatase0304
17-beta-hydroxysteroid dehydrogenase type 10203
Mu-type opioid receptor0011
5-hydroxytryptamine receptor 2B0202
Mu-type opioid receptor0011
Cytochrome P450 1B10101
Estrogen receptor beta0113
Ghrelin O-acyltransferase0101
Broad substrate specificity ATP-binding cassette transporter ABCG20102
Estrogen receptor beta0001
Multidrug resistance-associated protein 40101
Solute carrier organic anion transporter family member 1A40001
Solute carrier organic anion transporter family member 1A50001
Solute carrier organic anion transporter family member 2B1 0001
Tyrosine-protein phosphatase non-receptor type 10001
Estrogen receptor0001
Sodium/bile acid cotransporter0001
Multidrug resistance-associated protein 1 0102
Solute carrier organic anion transporter family member 1A20001
Solute carrier family 22 member 200101
Solute carrier family 22 member 80001
Solute carrier family 22 member 60101
Solute carrier organic anion transporter family member0001
Solute carrier organic anion transporter family member 1C10101
Solute carrier family 22 member 110001
Solute carrier organic anion transporter family member 1A10001
Solute carrier organic anion transporter family member 1B20001
Solute carrier family 22 member 80102
Solute carrier organic anion transporter family member 1B10102
aryl hydrocarbon receptor1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]