MCID: TST023
MIFTS: 28

Testotoxicosis malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Testotoxicosis

Aliases & Descriptions for Testotoxicosis:

Name: Testotoxicosis 50 69
Sexual Precocity, Familial, Gonadotropin-Independent 50 29
Familial Testotoxicosis 50 69
Precocious Puberty, Male Limited 50
Male-Limited Precocious Puberty 24
Precocious Puberty 69
Pubertas Praecox 50

Classifications:



Summaries for Testotoxicosis

NIH Rare Diseases : 50 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. An important gene associated with Testotoxicosis is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The drugs Bicalutamide and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related phenotype is adipose tissue.

Wikipedia : 71 Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual... more...

Related Diseases for Testotoxicosis

Graphical network of the top 20 diseases related to Testotoxicosis:



Diseases related to Testotoxicosis

Symptoms & Phenotypes for Testotoxicosis

MGI Mouse Phenotypes related to Testotoxicosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 CYP19A1 LHCGR

Drugs & Therapeutics for Testotoxicosis

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
2
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
3 Steroid Synthesis Inhibitors Phase 2
4 Hormone Antagonists Phase 2
5 Androgen Antagonists Phase 2
6 Androgens Phase 2
7 Hormones Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
9 Estrogen Antagonists Phase 2
10 Estrogens Phase 2
11 Aromatase Inhibitors Phase 2
12 Antineoplastic Agents, Hormonal Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis] Active, not recruiting NCT00094328 Phase 2

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Testotoxicosis

Genetic tests related to Testotoxicosis:

id Genetic test Affiliating Genes
1 Gonadotropin-Independent Familial Sexual Precocity 29

Anatomical Context for Testotoxicosis

MalaCards organs/tissues related to Testotoxicosis:

39
Pituitary

Publications for Testotoxicosis

Articles related to Testotoxicosis:

(show all 28)
id Title Authors Year
1
Dopa-testotoxicosis: disruptive hypersexuality in hypogonadal men with prolactinomas treated with dopamine agonists. ( 27601019 )
2016
2
Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. ( 26757946 )
2016
3
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. ( 27532428 )
2016
4
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene". ( 26777051 )
2015
5
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. ( 26831561 )
2015
6
Mixed germ cell tumour after testotoxicosis. ( 24467671 )
2014
7
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. ( 24790387 )
2014
8
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. ( 20713483 )
2010
9
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
10
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. ( 19492585 )
2009
11
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
12
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. ( 18088394 )
2008
13
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. ( 17663289 )
2007
14
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. ( 16887451 )
2006
15
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. ( 16759041 )
2006
16
Testotoxicosis: current viewpoint. ( 16361981 )
2005
17
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. ( 9598734 )
1998
18
Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. ( 8912454 )
1996
19
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. ( 8809352 )
1996
20
Testotoxicosis. An unusual presentation and novel gene mutation. ( 7628171 )
1995
21
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). ( 7562970 )
1995
22
Hazards of ketoconazole therapy in testotoxicosis. ( 7819701 )
1994
23
Familial testotoxicosis in a Chinese family. ( 8194554 )
1994
24
Familial testotoxicosis. ( 7875868 )
1994
25
Testotoxicosis: gonadotrophin-independent male sexual precocity. ( 1589386 )
1992
26
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. ( 3901957 )
1985
27
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. ( 3917500 )
1985
28
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

ClinVar genetic disease variations for Testotoxicosis:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 LHCGR NM_000233.3(LHCGR): c.1733A> G (p.Asp578Gly) single nucleotide variant Pathogenic rs121912518 GRCh37 Chromosome 2, 48915203: 48915203
2 LHCGR NM_000233.3(LHCGR): c.1713G> A (p.Met571Ile) single nucleotide variant Pathogenic rs121912519 GRCh37 Chromosome 2, 48915223: 48915223
3 LHCGR NM_000233.3(LHCGR): c.1730C> T (p.Thr577Ile) single nucleotide variant Pathogenic rs121912521 GRCh37 Chromosome 2, 48915206: 48915206
4 LHCGR NM_000233.3(LHCGR): c.1715C> T (p.Ala572Val) single nucleotide variant Pathogenic rs121912522 GRCh37 Chromosome 2, 48915221: 48915221
5 LHCGR NM_000233.3(LHCGR): c.1193T> C (p.Met398Thr) single nucleotide variant Pathogenic rs121912526 GRCh37 Chromosome 2, 48915743: 48915743
6 LHCGR NM_000233.3(LHCGR): c.1118C> T (p.Ala373Val) single nucleotide variant Pathogenic rs121912528 GRCh37 Chromosome 2, 48915818: 48915818
7 LHCGR NM_000233.3(LHCGR): c.1624A> C (p.Ile542Leu) single nucleotide variant Pathogenic rs121912531 GRCh37 Chromosome 2, 48915312: 48915312
8 LHCGR NM_000233.3(LHCGR): c.1103T> C (p.Leu368Pro) single nucleotide variant Pathogenic rs121912533 GRCh37 Chromosome 2, 48915833: 48915833
9 LHCGR NM_000233.3(LHCGR): c.1703C> T (p.Ala568Val) single nucleotide variant Pathogenic rs121912534 GRCh37 Chromosome 2, 48915233: 48915233
10 LHCGR NM_000233.3(LHCGR): c.1370T> G (p.Leu457Arg) single nucleotide variant Pathogenic rs121912535 GRCh37 Chromosome 2, 48915566: 48915566
11 LHCGR NM_000233.3(LHCGR): c.1691A> G (p.Asp564Gly) single nucleotide variant Pathogenic rs121912540 GRCh37 Chromosome 2, 48915245: 48915245

Expression for Testotoxicosis

Search GEO for disease gene expression data for Testotoxicosis.

Pathways for Testotoxicosis

Pathways related to Testotoxicosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.65 CYP19A1 LHCGR
2 10.13 CYP19A1 LHCGR

GO Terms for Testotoxicosis

Sources for Testotoxicosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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