MCID: TST023
MIFTS: 27

Testotoxicosis

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Testotoxicosis

MalaCards integrated aliases for Testotoxicosis:

Name: Testotoxicosis 49 69
Familial Testotoxicosis 49 69
Sexual Precocity, Familial, Gonadotropin-Independent 49
Precocious Puberty, Male Limited 49
Precocious Puberty 69
Pubertas Praecox 49

Classifications:



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Summaries for Testotoxicosis

NIH Rare Diseases : 49 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 testotoxicosis, is related to precocious puberty, male-limited and precocious puberty. 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 Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary.

Related Diseases for Testotoxicosis

Graphical network of the top 20 diseases related to Testotoxicosis:



Diseases related to Testotoxicosis

Symptoms & Phenotypes for Testotoxicosis

Drugs & Therapeutics for Testotoxicosis

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 6013
2
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
3 Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3
4 Testosterone undecanoate Phase 2, Phase 3
5
Testosterone enanthate Phase 2, Phase 3 315-37-7 9416
6 Cathartics Phase 2, Phase 3
7 Gastrointestinal Agents Phase 2, Phase 3
8 Testosterone 17 beta-cypionate Phase 2, Phase 3
9 Anabolic Agents Phase 2, Phase 3
10 Androgens Phase 2, Phase 3
11 Hormone Antagonists Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14 Laxatives Phase 2, Phase 3
15 Antineoplastic Agents, Hormonal Phase 2, Phase 3
16 Castor Nutraceutical Phase 2, Phase 3
17
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
18
Testolactone Approved, Investigational Phase 2 968-93-4 13769
19
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
20
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
21 Deslorelin Phase 2
22 diuretics Phase 2
23 Mineralocorticoid Receptor Antagonists Phase 2
24 Mineralocorticoids Phase 2
25 Natriuretic Agents Phase 2
26 Diuretics, Potassium Sparing Phase 2
27 Steroid Synthesis Inhibitors Phase 2
28 Androgen Antagonists Phase 2
29 Estrogen Antagonists Phase 2
30 Estrogens Phase 2
31 Aromatase Inhibitors Phase 2
32
Epinephrine Approved, Vet_approved 51-43-4 5816
33 Racepinephrine Approved 329-65-7
34 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
2 Treatment of Boys With Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
3 Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis] Active, not recruiting NCT00094328 Phase 2 Bicalutamide;Anastrozole
4 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Testotoxicosis

Anatomical Context for Testotoxicosis

MalaCards organs/tissues related to Testotoxicosis:

38
Pituitary

Publications for Testotoxicosis

Articles related to Testotoxicosis:

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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