MCID: TST023
MIFTS: 32

Testotoxicosis malady

Genetic diseases, Rare diseases categories

Summaries for Testotoxicosis

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Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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:66 Familial male-limited precocious puberty, often abbreciated as FMPP, also known as familial sexual... more...

Aliases & Classifications for Testotoxicosis

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

testotoxicosis 44
sexual precocity, familial, gonadotropin-independent 44 23
precocious puberty, male limited 44 21
familial testotoxicosis 44 63
precocious puberty, male-limited 46
pubertas praecox 44


Related Diseases for Testotoxicosis

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Symptoms for Testotoxicosis

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Drugs & Therapeutics for Testotoxicosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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Genetic tests related to Testotoxicosis:

id Genetic test Affiliating Genes
1 Male-Limited Precocious Puberty21 LHCGR
2 Gonadotropin-Independent Familial Sexual Precocity23

Anatomical Context for Testotoxicosis

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34MalaCards
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MalaCards organs/tissues related to Testotoxicosis:

34
Pituitary

Animal Models for Testotoxicosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Testotoxicosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LHCGR, CYP19A1

Publications for Testotoxicosis

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53PubMed
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Articles related to Testotoxicosis:

(show all 19)
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
Familial testotoxicosis in a Chinese family. (8194554)
1994
15
Familial testotoxicosis. (7875868)
1994
16
Testotoxicosis: gonadotrophin-independent male sexual precocity. (1589386)
1992
17
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. (3917500)
1985
18
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. (3901957)
1985
19
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Testotoxicosis:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000233.3(LHCGR): c.1733A> G (p.Asp578Gly)single nucleotide variantPathogenicrs121912518GRCh37Chr 2, 48915203: 48915203
2NM_000233.3(LHCGR): c.1713G> A (p.Met571Ile)single nucleotide variantPathogenicrs121912519GRCh37Chr 2, 48915223: 48915223
3NM_000233.3(LHCGR): c.1730C> T (p.Thr577Ile)single nucleotide variantPathogenicrs121912521GRCh37Chr 2, 48915206: 48915206
4NM_000233.3(LHCGR): c.1715C> T (p.Ala572Val)single nucleotide variantPathogenicrs121912522GRCh37Chr 2, 48915221: 48915221
5NM_000233.3(LHCGR): c.1193T> C (p.Met398Thr)single nucleotide variantPathogenicrs121912526GRCh37Chr 2, 48915743: 48915743
6NM_000233.3(LHCGR): c.1118C> T (p.Ala373Val)single nucleotide variantPathogenicrs121912528GRCh37Chr 2, 48915818: 48915818
7NM_000233.3(LHCGR): c.1624A> C (p.Ile542Leu)single nucleotide variantPathogenicrs121912531GRCh37Chr 2, 48915312: 48915312
8NM_000233.3(LHCGR): c.1103T> C (p.Leu368Pro)single nucleotide variantPathogenicrs121912533GRCh37Chr 2, 48915833: 48915833
9NM_000233.3(LHCGR): c.1703C> T (p.Ala568Val)single nucleotide variantPathogenicrs121912534GRCh37Chr 2, 48915233: 48915233
10NM_000233.3(LHCGR): c.1370T> G (p.Leu457Arg)single nucleotide variantPathogenicrs121912535GRCh37Chr 2, 48915566: 48915566
11NM_000233.3(LHCGR): c.1691A> G (p.Asp564Gly)single nucleotide variantPathogenicrs121912540GRCh37Chr 2, 48915245: 48915245

Expression for genes affiliated with Testotoxicosis

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2BioGPS, 16Gene 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

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51PathCards, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Testotoxicosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Testotoxicosis

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 25HMDB
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Compounds related to Testotoxicosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1goserelin46 30 1211.4CYP19A1, LHCGR
2buserelin46 30 1211.4LHCGR, CYP19A1
3leuprolide acetate469.4LHCGR, CYP19A1
4flutamide46 62 1211.4LHCGR, CYP19A1
53beta-hydroxysteroid469.4CYP19A1, LHCGR
6progestin469.4LHCGR, CYP19A1
7gnrh469.3CYP19A1, LHCGR
8estradiol46 25 1211.3CYP19A1, LHCGR
9pge2469.3CYP19A1, LHCGR
10aspartate469.2CYP19A1, LHCGR
11progesterone46 30 62 25 1213.2CYP19A1, LHCGR
12testosterone46 62 25 1212.1LHCGR, CYP19A1
13estrogen469.1CYP19A1, LHCGR
14steroid469.0LHCGR, CYP19A1
15arginine468.8CYP19A1, LHCGR

GO Terms for genes affiliated with Testotoxicosis

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Products for genes affiliated with Testotoxicosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Testotoxicosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet