MCID: TST023
MIFTS: 40

Testotoxicosis malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Testotoxicosis

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Aliases & Descriptions for Testotoxicosis:

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

Classifications:



External Ids:

UMLS65 C1504412, C0342549, C0034013

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 familial male-limited precocious puberty and precocious puberty, male, and has symptoms including spermatic cord pain, epididymal tenderness and pain in testicle. 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 bone, prostate and colon, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Wikipedia:68 Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual... more...

Related Diseases for Testotoxicosis

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Graphical network of diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Symptoms for Testotoxicosis

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UMLS symptoms related to Testotoxicosis:


spermatic cord pain, epididymal tenderness, pain in testicle, increased libido, decreased libido

Drugs & Therapeutics for Testotoxicosis

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigationalPhase 2262120511-73-12187
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
2
BicalutamideapprovedPhase 216390357-06-556069, 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-,(+-)
3Hormone AntagonistsPhase 210002
4HormonesPhase 211748
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
6EstrogensPhase 22144
7Estrogen AntagonistsPhase 21155
8Antineoplastic Agents, HormonalPhase 24256
9Aromatase InhibitorsPhase 2721
10Androgen AntagonistsPhase 2252
11AndrogensPhase 21162

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis]Active, not recruitingNCT00094328Phase 2

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Testotoxicosis

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Anatomical Context for Testotoxicosis

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MalaCards organs/tissues related to Testotoxicosis:

33
Bone, Prostate, Colon, Breast, Thalamus, Neutrophil, Myeloid

Animal Models for Testotoxicosis or affiliated genes

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MGI Mouse Phenotypes related to Testotoxicosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7CYP19A1, FSHR, LHCGR
2MP:00053898.6CYP19A1, FSHR, LHCGR
3MP:00053908.5CYP19A1, FSHR, LHCGR
4MP:00053758.4CYP19A1, FSHR, LHCGR

Publications for Testotoxicosis

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Articles related to Testotoxicosis:

(show all 26)
idTitleAuthorsYear
1
Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. (26757946)
2016
2
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene". (26777051)
2015
3
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. (26831561)
2015
4
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. (24790387)
2014
5
Mixed germ cell tumour after testotoxicosis. (24467671)
2014
6
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
7
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. (20713483)
2010
8
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
9
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. (19492585)
2009
10
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. (18088394)
2008
11
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. (17663289)
2007
12
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. (16887451)
2006
13
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. (16759041)
2006
14
Testotoxicosis: current viewpoint. (16361981)
2005
15
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. (9598734)
1998
16
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. (8809352)
1996
17
Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. (8912454)
1996
18
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). (7562970)
1995
19
Testotoxicosis. An unusual presentation and novel gene mutation. (7628171)
1995
20
Familial testotoxicosis in a Chinese family. (8194554)
1994
21
Hazards of ketoconazole therapy in testotoxicosis. (7819701)
1994
22
Familial testotoxicosis. (7875868)
1994
23
Testotoxicosis: gonadotrophin-independent male sexual precocity. (1589386)
1992
24
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. (3917500)
1985
25
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. (3901957)
1985
26
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 pathwaysScoreTop 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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Biological processes related to Testotoxicosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1activation of adenylate cyclase activityGO:00071909.3FSHR, LHCGR
2phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.0FSHR, 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