MCID: TST023
MIFTS: 44

Testotoxicosis malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Testotoxicosis

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Sources:
60UMLS, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 20GeneTests, 22GTR, 43Novoseek, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Testotoxicosis, Aliases & Descriptions:

Name: Testotoxicosis 41 21 47 60
Familial Male-Limited Precocious Puberty 41 21 47
Familial Gonadotropin-Independent Male-Limited Sexual Precocity 41 47
Sexual Precocity, Familial, Gonadotropin-Independent 41 22
Precocious Puberty, Male Limited 41 20
Male-Limited Precocious Puberty 41 47
Familial Testotoxicosis 41 60
Pubertas Praecox 41 21
 
Fmpp 41 47
Familial Gonadotrophin-Independent Sexual Precocity 21
Gonadotrophin-Independent Precocious Puberty 21
Precocious Puberty, Male-Limited 43
Precocious Pseudopuberty 21
Precocious Puberty 60
Gipp 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
testotoxicosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet47 3000
UMLS via Orphanet61 C0342549, C1504412
MESH via Orphanet34 C536961
ICD10 via Orphanet26 E30.1

Summaries for Testotoxicosis

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NIH Rare Diseases:41 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 familial male-limited precocious puberty, is related to precocious puberty and hypogonadism, and has symptoms including tall stature, decreased fertility and precocious puberty. 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 drugs gonadorelin and tamoxifen and the compounds goserelin and buserelin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and pituitary, and related mouse phenotype adipose tissue.

Genetics Home Reference:21 Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.

Wikipedia:63 Familial male-limited precocious puberty, often abbreciated 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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Symptoms:

 47 (show all 12)
  • sterility/hypofertility
  • precocious puberty
  • advanced bone age
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • acne/acnea
  • hair and scalp anomalies
  • macropenis/megapenis/large penis
  • macroorchidism/macrotestes
  • azoospermia/oligospermia/asthenospermia
  • hyperactivity/attention deficit
  • psychic/behavioural troubles

HPO human phenotypes related to Testotoxicosis:

(show all 9)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 decreased fertility hallmark (90%) HP:0000144
3 precocious puberty hallmark (90%) HP:0000826
4 accelerated skeletal maturation hallmark (90%) HP:0005616
5 enlarged penis typical (50%) HP:0000040
6 acne typical (50%) HP:0001061
7 functional abnormality of male internal genitalia occasional (7.5%) HP:0000025
8 macroorchidism occasional (7.5%) HP:0000053
9 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018

Drugs & Therapeutics for Testotoxicosis

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Drug clinical trials:

Search ClinicalTrials for Testotoxicosis

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS60/NDF-RT39:

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:

31
Testes, Bone, Pituitary

Animal Models for Testotoxicosis or affiliated genes

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MGI Mouse Phenotypes related to Testotoxicosis:

35
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--&gt;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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Clinvar genetic disease variations for Testotoxicosis:

6 (show all 13)
id Gene Variation 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
3LHCGRLHCGR, ASP582GLYundetermined variantPathogenic
4NM_000233.3(LHCGR): c.1730C> T (p.Thr577Ile)single nucleotide variantPathogenicrs121912521GRCh37Chr 2, 48915206: 48915206
5NM_000233.3(LHCGR): c.1715C> T (p.Ala572Val)single nucleotide variantPathogenicrs121912522GRCh37Chr 2, 48915221: 48915221
6NM_000233.3(LHCGR): c.1193T> C (p.Met398Thr)single nucleotide variantPathogenicrs121912526GRCh37Chr 2, 48915743: 48915743
7NM_000233.3(LHCGR): c.1118C> T (p.Ala373Val)single nucleotide variantPathogenicrs121912528GRCh37Chr 2, 48915818: 48915818
8NM_000233.3(LHCGR): c.1624A> C (p.Ile542Leu)single nucleotide variantPathogenicrs121912531GRCh37Chr 2, 48915312: 48915312
9NM_000233.3(LHCGR): c.1103T> C (p.Leu368Pro)single nucleotide variantPathogenicrs121912533GRCh37Chr 2, 48915833: 48915833
10NM_000233.3(LHCGR): c.1703C> T (p.Ala568Val)single nucleotide variantPathogenicrs121912534GRCh37Chr 2, 48915233: 48915233
11NM_000233.3(LHCGR): c.1370T> G (p.Leu457Arg)single nucleotide variantPathogenicrs121912535GRCh37Chr 2, 48915566: 48915566
12NM_000233.3(LHCGR): c.1691A> G (p.Asp564Gly)single nucleotide variantPathogenicrs121912540GRCh37Chr 2, 48915245: 48915245
13NM_000233.3(LHCGR): c.1732G> T (p.Asp578Tyr)single nucleotide variantLikely pathogenicrs121912532GRCh37Chr 2, 48915204: 48915204

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
19.1LHCGR, CYP19A1
29.1LHCGR, CYP19A1

Compounds for genes affiliated with Testotoxicosis

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Sources:
43Novoseek, 28IUPHAR, 12DrugBank, 59Tocris Bioscience, 24HMDB
See all sources

Compounds related to Testotoxicosis according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1goserelin43 28 1211.4LHCGR, CYP19A1
2buserelin43 28 1211.4LHCGR, CYP19A1
3leuprolide acetate439.4LHCGR, CYP19A1
4flutamide43 59 1211.4CYP19A1, LHCGR
53beta-hydroxysteroid439.4LHCGR, CYP19A1
6progestin439.4LHCGR, CYP19A1
7gnrh439.3LHCGR, CYP19A1
8estradiol43 24 1211.3CYP19A1, LHCGR
9pge2439.3LHCGR, CYP19A1
10aspartate439.2LHCGR, CYP19A1
11progesterone43 28 59 24 1213.2LHCGR, CYP19A1
12testosterone43 59 24 1212.1CYP19A1, LHCGR
13estrogen439.1LHCGR, CYP19A1
14steroid439.0LHCGR, CYP19A1
15arginine438.8LHCGR, 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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Testotoxicosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet