MCID: TST023
MIFTS: 27

Testotoxicosis malady

Genetic category

Summaries for Testotoxicosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Testotoxicosis, also known as sexual precocity, familial, gonadotropin-independent, is related to precocious puberty and precocious puberty, male. An important gene associated with Testotoxicosis is LHCGR (luteinizing hormone/choriogonadotropin receptor), and among its related pathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The compounds goserelin and buserelin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotype adipose tissue.

Wikipedia:64 Familial male-limited precocious puberty, often abbreciated as FMPP, also known as familial sexual... more...

Aliases & Classifications for Testotoxicosis

Sources:
43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

testotoxicosis 43
sexual precocity, familial, gonadotropin-independent 43 22
precocious puberty, male limited 43 20
familial testotoxicosis 43 61
precocious puberty, male-limited 45
pubertas praecox 43


Related Diseases for Testotoxicosis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Clinical Features for Testotoxicosis

Drugs & Therapeutics for Testotoxicosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Testotoxicosis

Drug clinical trials:

Search ClinicalTrials for Testotoxicosis

Search NIH Clinical Center for Testotoxicosis

Search CenterWatch for Testotoxicosis

Genetic Tests for Testotoxicosis

Sources:
20GeneTests, 22GTR
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Genetic tests related to Testotoxicosis:

id Genetic test Affiliating Genes
1 Male-limited Precocious Puberty20 LHCGR
2 Gonadotropin-independent Familial Sexual Precocity22

Anatomical Context for Testotoxicosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Testotoxicosis:

33
Pituitary

Animal Models for Testotoxicosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Testotoxicosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1CYP19A1, LHCGR

Publications for Testotoxicosis

Sources:
51PubMed
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Articles related to Testotoxicosis:

(show all 22)
idTitleAuthorsYear
1
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
2
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. (20713483)
2010
3
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
4
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. (19492585)
2009
5
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. (18088394)
2008
6
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. (17663289)
2007
7
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. (16887451)
2006
8
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. (16759041)
2006
9
Testotoxicosis: current viewpoint. (16361981)
2005
10
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. (9598734)
1998
11
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. (8809352)
1996
12
Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. (8912454)
1996
13
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). (7562970)
1995
14
Testotoxicosis. An unusual presentation and novel gene mutation. (7628171)
1995
15
Familial testotoxicosis in a Chinese family. (8194554)
1994
16
Hazards of ketoconazole therapy in testotoxicosis. (7819701)
1994
17
Familial testotoxicosis. (7875868)
1994
18
Testotoxicosis: gonadotrophin-independent male sexual precocity. (1589386)
1992
19
Gonadotropin-independent precocious puberty ("testotoxicosis"): influence of maturational status on response to ketoconazole. (3539979)
1987
20
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. (3917500)
1985
21
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. (3901957)
1985
22
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

Genetic Variations for Testotoxicosis

Expression for genes affiliated with Testotoxicosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Testotoxicosis

Search GEO for disease gene expression data for Testotoxicosis.

Pathways for genes affiliated with Testotoxicosis

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Testotoxicosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1CYP19A1, LHCGR
29.1CYP19A1, LHCGR

Compounds for genes affiliated with Testotoxicosis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB
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Compounds related to Testotoxicosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1goserelin45 29 1111.4CYP19A1, LHCGR
2buserelin45 29 1111.4LHCGR, CYP19A1
3leuprolide acetate459.4CYP19A1, LHCGR
4flutamide45 60 1111.4CYP19A1, LHCGR
53beta-hydroxysteroid459.4CYP19A1, LHCGR
6progestin459.3LHCGR, CYP19A1
7gnrh459.3LHCGR, CYP19A1
8estradiol45 11 2411.3LHCGR, CYP19A1
9pge2459.2CYP19A1, LHCGR
10aspartate459.2CYP19A1, LHCGR
11progesterone45 60 29 11 2413.1LHCGR, CYP19A1
12arginine459.1LHCGR, CYP19A1
13testosterone45 60 11 2412.0CYP19A1, LHCGR
14steroid458.8CYP19A1, LHCGR

GO Terms for genes affiliated with Testotoxicosis

Products for genes affiliated with Testotoxicosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Testotoxicosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet