MCID: FML157
MIFTS: 28

Familial Male-Limited Precocious Puberty

Categories: Genetic diseases

Aliases & Classifications for Familial Male-Limited Precocious Puberty

MalaCards integrated aliases for Familial Male-Limited Precocious Puberty:

Name: Familial Male-Limited Precocious Puberty 25 37
Testotoxicosis 25 73
Familial Gonadotrophin-Independent Sexual Precocity 25
Gonadotrophin-Independent Precocious Puberty 25
Precocious Pseudopuberty 25
Familial Testotoxicosis 73
Precocious Puberty 73
Pubertas Praecox 25
Gipp 25

Classifications:



Summaries for Familial Male-Limited Precocious Puberty

Genetics Home Reference : 25 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.

MalaCards based summary : Familial Male-Limited Precocious Puberty, also known as testotoxicosis, is related to testotoxicosis and precocious puberty, male-limited. An important gene associated with Familial Male-Limited Precocious Puberty is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Calcium signaling pathway and Prolactin signaling pathway. The drugs Anastrozole and Bicalutamide have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are long penis and macroorchidism

Related Diseases for Familial Male-Limited Precocious Puberty

Diseases related to Familial Male-Limited Precocious Puberty via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 testotoxicosis 11.6
2 precocious puberty, male-limited 11.5
3 cortisone reductase deficiency 1 11.2
4 cortisone reductase deficiency 2 11.2
5 precocious puberty 10.7
6 ovarian cyst 10.2
7 neurofibromatosis, type i 10.0
8 type i 10.0
9 enchondromatosis, multiple, ollier type 10.0
10 glucocorticoid resistance, generalized 10.0
11 leydig cell tumor 10.0
12 sertoli-leydig cell tumor 10.0
13 juvenile type testicular granulosa cell tumor 10.0

Graphical network of the top 20 diseases related to Familial Male-Limited Precocious Puberty:



Diseases related to Familial Male-Limited Precocious Puberty

Symptoms & Phenotypes for Familial Male-Limited Precocious Puberty

Human phenotypes related to Familial Male-Limited Precocious Puberty:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 long penis 32 frequent (33%) HP:0000040
2 macroorchidism 32 occasional (7.5%) HP:0000053
3 tall stature 32 hallmark (90%) HP:0000098
4 oligospermia 32 occasional (7.5%) HP:0000798
5 precocious puberty 32 hallmark (90%) HP:0000826
6 acne 32 frequent (33%) HP:0001061
7 abnormality of the hair 32 frequent (33%) HP:0001595
8 male infertility 32 hallmark (90%) HP:0003251
9 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
10 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018

Drugs & Therapeutics for Familial Male-Limited Precocious Puberty

Drugs for Familial Male-Limited Precocious Puberty (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
2
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
3 Steroid Synthesis Inhibitors Phase 2
4 Androgen Antagonists Phase 2
5 Androgens Phase 2
6 Hormone Antagonists 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
13
Epinephrine Approved, Vet_approved 51-43-4 5816
14
Racepinephrine Approved 329-65-7 838
15 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 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for Familial Male-Limited Precocious Puberty

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


Genetic Tests for Familial Male-Limited Precocious Puberty

Anatomical Context for Familial Male-Limited Precocious Puberty

MalaCards organs/tissues related to Familial Male-Limited Precocious Puberty:

41
Testes

Publications for Familial Male-Limited Precocious Puberty

Articles related to Familial Male-Limited Precocious Puberty:

(show all 18)
# Title Authors Year
1
Adult height in patients with familial male-limited precocious puberty and the role of an aromatase inhibitor in patient management. ( 29654692 )
2018
2
Familial male-limited precocious puberty in neurofibromatosis type I. ( 23982246 )
2014
3
[Analysis of a family affected with familial male-limited precocious puberty due to a Ala568Val mutation in LHCGR gene]. ( 23225038 )
2012
4
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
5
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. ( 18088394 )
2008
6
Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. ( 16939760 )
2006
7
Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. ( 15522928 )
2005
8
Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty. ( 14510919 )
2003
9
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. ( 11391350 )
2001
10
Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty. ( 11200941 )
2000
11
A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity. ( 9973550 )
1999
12
Six-year results of spironolactone and testolactone treatment of familial male-limited precocious puberty with addition of deslorelin after central puberty onset. ( 9920079 )
1999
13
[Genetically determined familial male limited precocious puberty]. ( 9480233 )
1997
14
[Familial male-limited precocious puberty]. ( 9396295 )
1997
15
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. ( 8829636 )
1996
16
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. ( 7892197 )
1995
17
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. ( 7593421 )
1995
18
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. ( 8281137 )
1993

Variations for Familial Male-Limited Precocious Puberty

Expression for Familial Male-Limited Precocious Puberty

Search GEO for disease gene expression data for Familial Male-Limited Precocious Puberty.

Pathways for Familial Male-Limited Precocious Puberty

Pathways related to Familial Male-Limited Precocious Puberty according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Prolactin signaling pathway hsa04917

GO Terms for Familial Male-Limited Precocious Puberty

Sources for Familial Male-Limited Precocious Puberty

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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