MCID: TST023
MIFTS: 35

Testotoxicosis

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Testotoxicosis

MalaCards integrated aliases for Testotoxicosis:

Name: Testotoxicosis 53 73
Familial Testotoxicosis 53 73
Sexual Precocity, Familial, Gonadotropin-Independent 53
Precocious Puberty, Male Limited 53
Precocious Puberty 73
Pubertas Praecox 53

Classifications:



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Summaries for Testotoxicosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Testotoxicosis, also known as familial testotoxicosis, is related to precocious puberty, male-limited and mccune-albright syndrome. An important gene associated with Testotoxicosis is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Calcium signaling pathway and G alpha (s) signalling events. The drugs Anastrozole and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related phenotypes are adipose tissue and endocrine/exocrine gland

Wikipedia : 76 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.54 CYP19A1 GNAS LHCGR
2 endocrine/exocrine gland MP:0005379 9.5 CYP19A1 GNAS LHCGR
3 liver/biliary system MP:0005370 9.43 CYP19A1 GNAS LHCGR
4 normal MP:0002873 9.33 CYP19A1 GNAS LHCGR
5 renal/urinary system MP:0005367 9.13 CYP19A1 GNAS LHCGR
6 skeleton MP:0005390 8.8 CYP19A1 GNAS LHCGR

Drugs & Therapeutics for Testotoxicosis

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
2
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
3
Testolactone Approved, Investigational Phase 2 968-93-4 13769
4
Testosterone Approved, Investigational Phase 2 58-22-0 6013
5
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
6 Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
7 diuretics Phase 2
8 Mineralocorticoid Receptor Antagonists Phase 2
9 Mineralocorticoids Phase 2
10 Natriuretic Agents Phase 2
11 Steroid Synthesis Inhibitors Phase 2
12 Androgen Antagonists Phase 2
13 Androgens Phase 2
14 Hormone Antagonists Phase 2
15 Hormones Phase 2
16 Diuretics, Potassium Sparing Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Estrogen Antagonists Phase 2
19 Estrogens Phase 2
20 Aromatase Inhibitors Phase 2
21 Antineoplastic Agents, Hormonal Phase 2
22
Epinephrine Approved, Vet_approved 51-43-4 5816
23
Racepinephrine Approved 329-65-7 838
24 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis] Completed NCT00094328 Phase 2 Bicalutamide;Anastrozole
2 Treatment of Boys With Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
3 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Testotoxicosis

Anatomical Context for Testotoxicosis

MalaCards organs/tissues related to Testotoxicosis:

41
Pituitary

Publications for Testotoxicosis

Articles related to Testotoxicosis:

(show all 31)
# Title Authors Year
1
Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. ( 29858851 )
2018
2
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. ( 29538680 )
2018
3
Germ Cell Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis. ( 29029242 )
2017
4
Dopa-testotoxicosis: disruptive hypersexuality in hypogonadal men with prolactinomas treated with dopamine agonists. ( 27601019 )
2016
5
Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. ( 26757946 )
2016
6
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
7
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene". ( 26777051 )
2015
8
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. ( 26831561 )
2015
9
Mixed germ cell tumour after testotoxicosis. ( 24467671 )
2014
10
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. ( 24790387 )
2014
11
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
12
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. ( 20713483 )
2010
13
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
14
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. ( 19492585 )
2009
15
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. ( 18088394 )
2008
16
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. ( 17663289 )
2007
17
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. ( 16887451 )
2006
18
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor. ( 16759041 )
2006
19
Testotoxicosis: current viewpoint. ( 16361981 )
2005
20
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. ( 9598734 )
1998
21
Testotoxicosis proved by immunohistochemical analysis and successfully treated with cyproterone acetate. ( 8912454 )
1996
22
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. ( 8809352 )
1996
23
Testotoxicosis. An unusual presentation and novel gene mutation. ( 7628171 )
1995
24
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). ( 7562970 )
1995
25
Hazards of ketoconazole therapy in testotoxicosis. ( 7819701 )
1994
26
Familial testotoxicosis in a Chinese family. ( 8194554 )
1994
27
Familial testotoxicosis. ( 7875868 )
1994
28
Testotoxicosis: gonadotrophin-independent male sexual precocity. ( 1589386 )
1992
29
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. ( 3917500 )
1985
30
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. ( 3901957 )
1985
31
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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 GNAS LHCGR
2 11.32 GNAS LHCGR
3 10.49 CYP19A1 GNAS LHCGR
4 10.46 CYP19A1 LHCGR

GO Terms for Testotoxicosis

Biological processes related to Testotoxicosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.32 GNAS LHCGR
2 cognition GO:0050890 9.26 GNAS LHCGR
3 activation of adenylate cyclase activity GO:0007190 9.16 GNAS LHCGR
4 female gonad development GO:0008585 8.96 CYP19A1 LHCGR
5 uterus development GO:0060065 8.62 CYP19A1 LHCGR

Molecular functions related to Testotoxicosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 8.62 GNAS LHCGR

Sources for Testotoxicosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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