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 24 36
Testotoxicosis 24 69
Familial Gonadotrophin-Independent Sexual Precocity 24
Gonadotrophin-Independent Precocious Puberty 24
Precocious Pseudopuberty 24
Familial Testotoxicosis 69
Precocious Puberty 69
Pubertas Praecox 24
Gipp 24

Classifications:



Summaries for Familial Male-Limited Precocious Puberty

Genetics Home Reference : 24 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 precocious puberty, male-limited and cortisone reductase deficiency 1, and has symptoms including long penis, macroorchidism and tall stature. 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 Bicalutamide and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include testes.

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 precocious puberty, male-limited 11.8
2 cortisone reductase deficiency 1 11.2
3 cortisone reductase deficiency 2 11.2
4 precocious puberty 10.6
5 testotoxicosis 10.2
6 ovarian cyst 10.2
7 neurofibromatosis, type i 10.0
8 neurofibromatosis, type iv, of riccardi 10.0
9 juvenile type testicular granulosa cell tumor 10.0
10 enchondromatosis, multiple, ollier type 10.0
11 glucocorticoid resistance, generalized 10.0
12 leydig cell tumor 10.0
13 sertoli-leydig 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 long penis 31 frequent (33%) HP:0000040
2 macroorchidism 31 occasional (7.5%) HP:0000053
3 tall stature 31 hallmark (90%) HP:0000098
4 oligospermia 31 occasional (7.5%) HP:0000798
5 precocious puberty 31 hallmark (90%) HP:0000826
6 acne 31 frequent (33%) HP:0001061
7 abnormality of the hair 31 frequent (33%) HP:0001595
8 male infertility 31 hallmark (90%) HP:0003251
9 accelerated skeletal maturation 31 hallmark (90%) HP:0005616
10 attention deficit hyperactivity disorder 31 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
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
2
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
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 Antineoplastic Agents, Hormonal Phase 2
12 Aromatase Inhibitors Phase 2
13
Epinephrine Approved, Vet_approved 51-43-4 5816
14 Racepinephrine Approved 329-65-7
15 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis] Active, not recruiting 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 69 / NDF-RT 47 :


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:

38
Testes

Publications for Familial Male-Limited Precocious Puberty

Articles related to Familial Male-Limited Precocious Puberty:

(show all 15)
# Title Authors Year
1
Familial male-limited precocious puberty in neurofibromatosis type I. ( 23982246 )
2014
2
[Analysis of a family affected with familial male-limited precocious puberty due to a Ala568Val mutation in LHCGR gene]. ( 23225038 )
2012
3
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
4
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. ( 18088394 )
2008
5
Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. ( 16939760 )
2006
6
Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. ( 15522928 )
2005
7
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
8
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. ( 11391350 )
2001
9
Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty. ( 11200941 )
2000
10
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
11
Six-year results of spironolactone and testolactone treatment of familial male-limited precocious puberty with addition of deslorelin after central puberty onset. ( 9920079 )
1999
12
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. ( 8829636 )
1996
13
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. ( 7593421 )
1995
14
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. ( 7892197 )
1995
15
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:

36
# 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
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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