MCID: TST023
MIFTS: 34

Testotoxicosis malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Testotoxicosis

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Sources:
65UMLS, 45NIH Rare Diseases, 22GeneTests, 24GTR, 47Novoseek
See all sources

Aliases & Descriptions for Testotoxicosis:

Name: Testotoxicosis 45 65
Sexual Precocity, Familial, Gonadotropin-Independent 45 24
Precocious Puberty, Male Limited 45 22
Familial Testotoxicosis 45 65
 
Precocious Puberty, Male-Limited 47
Precocious Puberty 65
Pubertas Praecox 45


Classifications:



Summaries for Testotoxicosis

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NIH Rare Diseases:45 Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. the disease generally presents between 2 and 4 years of age. patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor (lhcgr) gene, which leads to increased levels of sex steroids in the context of low luteinizing hormone. the condition may be sporadic or transmitted as a dominant trait. it is only expressed in males. treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of antiandrogens and aromatase inhibitors. last updated: 2/29/2012

MalaCards based summary: Testotoxicosis, also known as sexual precocity, familial, gonadotropin-independent, is related to sexual disorder and pseudohypoparathyroidism. An important gene associated with Testotoxicosis is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways are G alpha (s) signalling events and Hormone ligand-binding receptors. The drugs gonadorelin and tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

Related Diseases for Testotoxicosis

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Graphical network of the top 20 diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Symptoms for Testotoxicosis

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Drugs & Therapeutics for Testotoxicosis

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Drugs for Testotoxicosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BicalutamideapprovedPhase 215890357-06-556069, 2375
Synonyms:
(+-)-4'-Cyano-alpha,alpha,alpha-trifluoro-3-((p-fluorophenyl)sulfonyl)-2-methyl-m-lactotoluidide
4'-cyano-3-(4-fluorophenylsulfonyl)-2-hydroxy-2-methyl-3'-(trifluoromethyl)propionanilide
90357-06-5
AC-4232
AC1L1DJE
Astra brand of bicalutamide
AstraZeneca brand of bicalutamide
BRN 5364666
Bicalutamide
Bicalutamide (JAN/USP/INN)
Bicalutamide [USAN:INN:BAN]
C053541
C08160
C18H14F4N2O4S
CHEMBL409
CID2375
CPD000466329
Casodex
Casodex (TN)
Casodex, Cosudex, Calutide, Kalumid, Bicalutamide
Cosudex
D00961
DB01128
FT-0080576
 
HMS2051B13
HMS2089N12
I06-0475
I06-0480
ICI 176334
ICI-176334
KS-1161
LS-119125
MLS000759437
MLS001424047
MolPort-003-845-034
MolPort-006-808-679
N-[4-cyano-3-(trifluoromethyl)phenyl]-3-(4-fluorophenyl)sulfonyl-2-hydroxy-2-methylpropanamide
NCGC00167977-01
NCGC00167977-02
NSC722665
Propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,
Raffolutil
S1190_Selleck
SAM001246612
SMR000466329
TL8005814
Zeneca brand of bicalutamide
bicalutamide
propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,(+-)
2
Anastrozoleapproved, investigationalPhase 2252120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
3
Epinephrineapproved76851-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
4Racepinephrine768
5Epinephryl borate768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis]Active, not recruitingNCT00094328Phase 2
2Natural History Study of Patients With Excess AndrogenEnrolling by invitationNCT00250159

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Testotoxicosis

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Genetic tests related to Testotoxicosis:

id Genetic test Affiliating Genes
1 Male-Limited Precocious Puberty22 LHCGR
2 Gonadotropin-Independent Familial Sexual Precocity24

Anatomical Context for Testotoxicosis

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MalaCards organs/tissues related to Testotoxicosis:

33
Pituitary

Animal Models for Testotoxicosis or affiliated genes

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MGI Mouse Phenotypes related to Testotoxicosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5CYP19A1, FSHR, LHCGR
2MP:00053798.5CYP19A1, FSHR, LHCGR
3MP:00053898.2CYP19A1, FSHR, LHCGR

Publications for Testotoxicosis

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Articles related to Testotoxicosis:

(show all 23)
idTitleAuthorsYear
1
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. (24790387)
2014
2
Mixed germ cell tumour after testotoxicosis. (24467671)
2014
3
Bicalutamide plus anastrozole for the treatment of gonadotropin-independent precocious puberty in boys with testotoxicosis: a phase II, open-label pilot study (BATT). (21158211)
2010
4
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. (20713483)
2010
5
Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor. (20333877)
2009
6
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. (19492585)
2009
7
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. (18088394)
2008
8
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. (17663289)
2007
9
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. (16887451)
2006
10
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. (16759041)
2006
11
Testotoxicosis: current viewpoint. (16361981)
2005
12
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. (9598734)
1998
13
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. (8809352)
1996
14
Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. (8912454)
1996
15
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). (7562970)
1995
16
Testotoxicosis. An unusual presentation and novel gene mutation. (7628171)
1995
17
Familial testotoxicosis in a Chinese family. (8194554)
1994
18
Hazards of ketoconazole therapy in testotoxicosis. (7819701)
1994
19
Familial testotoxicosis. (7875868)
1994
20
Testotoxicosis: gonadotrophin-independent male sexual precocity. (1589386)
1992
21
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. (3917500)
1985
22
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. (3901957)
1985
23
Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. (6223935)
1983

Variations for Testotoxicosis

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Expression for genes affiliated with Testotoxicosis

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Search GEO for disease gene expression data for Testotoxicosis.

Pathways for genes affiliated with Testotoxicosis

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Pathways related to Testotoxicosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FSHR, LHCGR
29.3FSHR, LHCGR
39.1CYP19A1, FSHR
48.5CYP19A1, FSHR, LHCGR
58.5CYP19A1, FSHR, LHCGR

GO Terms for genes affiliated with Testotoxicosis

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Cellular components related to Testotoxicosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.3FSHR, LHCGR

Biological processes related to Testotoxicosis according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ovulation cycle processGO:00226029.9FSHR, LHCGR
2uterus developmentGO:00600659.7FSHR, LHCGR
3female gonad developmentGO:00085859.6FSHR, LHCGR
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.5FSHR, LHCGR
5activation of adenylate cyclase activityGO:00071909.5FSHR, LHCGR
6hormone-mediated signaling pathwayGO:00097559.3FSHR, LHCGR
7male gonad developmentGO:00085849.3FSHR, LHCGR
8phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.0FSHR, LHCGR

Molecular functions related to Testotoxicosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled peptide receptor activityGO:00085289.3FSHR, LHCGR

Sources for Testotoxicosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet