MCID: TST023
MIFTS: 32

Testotoxicosis malady

Genetic diseases, Rare diseases categories
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Summaries for Testotoxicosis

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NIH Rare Diseases:42 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 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:65 Familial male-limited precocious puberty, often abbreciated as FMPP, also known as familial sexual... more...

Aliases & Classifications for Testotoxicosis

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Sources:
42NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 44Novoseek
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Testotoxicosis, Aliases & Descriptions:

Name: Testotoxicosis 42
Sexual Precocity, Familial, Gonadotropin-Independent 42 22
Precocious Puberty, Male Limited 42 20
 
Familial Testotoxicosis 42 62
Precocious Puberty, Male-Limited 44
Pubertas Praecox 42


Classifications:

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


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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Drugs & Therapeutics for Testotoxicosis

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Drug clinical trials:

Search ClinicalTrials for Testotoxicosis

Search NIH Clinical Center for Testotoxicosis

Genetic Tests for Testotoxicosis

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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

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MalaCards organs/tissues related to Testotoxicosis:

32
Pituitary

Animal Models for Testotoxicosis or affiliated genes

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MGI Mouse Phenotypes related to Testotoxicosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LHCGR, CYP19A1

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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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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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:
44Novoseek, 28IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Testotoxicosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1goserelin44 28 1111.4LHCGR, CYP19A1
2buserelin44 28 1111.4LHCGR, CYP19A1
3leuprolide acetate449.4LHCGR, CYP19A1
4flutamide44 61 1111.4CYP19A1, LHCGR
53beta-hydroxysteroid449.4LHCGR, CYP19A1
6progestin449.4LHCGR, CYP19A1
7gnrh449.3LHCGR, CYP19A1
8estradiol44 24 1111.3CYP19A1, LHCGR
9pge2449.3LHCGR, CYP19A1
10aspartate449.2LHCGR, CYP19A1
11progesterone44 28 61 24 1113.2LHCGR, CYP19A1
12testosterone44 61 24 1112.1CYP19A1, LHCGR
13estrogen449.1LHCGR, CYP19A1
14steroid449.0LHCGR, CYP19A1
15arginine448.8LHCGR, CYP19A1

GO Terms for genes affiliated with Testotoxicosis

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Products for genes affiliated with Testotoxicosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Testotoxicosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet