FMPP
MCID: PRC038
MIFTS: 59

Precocious Puberty, Male-Limited (FMPP)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Precocious Puberty, Male-Limited

MalaCards integrated aliases for Precocious Puberty, Male-Limited:

Name: Precocious Puberty, Male-Limited 56 54
Testotoxicosis 12 74 52 25 58 73 71
Familial Male-Limited Precocious Puberty 12 25 58 36 15
Gonadotropin-Independent Familial Sexual Precocity 29 6 39
Familial Testotoxicosis 52 43 71
Fmpp 12 58 73
Familial Gonadotropin-Independent Male-Limited Sexual Precocity 12 58
Leydig Cell Adenoma, Somatic, with Precocious Puberty 56 13
Sexual Precocity, Familial, Gonadotropin-Independent 56 52
Male-Limited Precocious Puberty 12 58
Precocious Puberty in Males 29 6
Pubertas Praecox 52 25
Familial Gonadotrophin-Independent Sexual Precocity 25
Gonadotrophin-Independent Precocious Puberty 25
Precocious Puberty, Male Limited 52
Familial Male Precocious Puberty 73
Testotoxicosis, Familial 56
Precocious Puberty, Male 56
Precocious Pseudopuberty 25
Puberty, Precocious 43
Gipp 25

Characteristics:

Orphanet epidemiological data:

58
familial male-limited precocious puberty
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
sex-limited autosomal dominant


HPO:

31
precocious puberty, male-limited:
Inheritance sex-limited autosomal dominant


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111545
OMIM 56 176410
KEGG 36 H02019
NCIt 49 C113219
SNOMED-CT 67 725295005
MESH via Orphanet 44 C536961
ICD10 via Orphanet 33 E30.1
UMLS via Orphanet 72 C0342549 C1504412
Orphanet 58 ORPHA3000
UMLS 71 C0342549 C1504412

Summaries for Precocious Puberty, Male-Limited

NIH Rare Diseases : 52 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 : Precocious Puberty, Male-Limited, also known as testotoxicosis, is related to ovarian cyst and vaginal discharge. An important gene associated with Precocious Puberty, Male-Limited is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Calcium signaling pathway and Prolactin signaling pathway. The drugs Leuprolide and Megestrol acetate have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and bone, and related phenotypes are precocious puberty and tall stature

Disease Ontology : 12 An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has material basis in heterozygous mutation in LHCGR on chromosome 2p16.3.

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.

OMIM : 56 Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993). (176410)

KEGG : 36 Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.

UniProtKB/Swiss-Prot : 73 Familial male precocious puberty: In FMPP the receptor is constitutively activated.

Wikipedia : 74 Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual... more...

Related Diseases for Precocious Puberty, Male-Limited

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 ovarian cyst 30.8 GNRH1 GNAS CYP19A1
2 vaginal discharge 30.6 GNRH1 CYP19A1
3 estrogen excess 30.5 GNRH1 FSHR CYP19A1
4 mccune-albright syndrome 30.3 GNAS GNA15 CYP19A1
5 pseudohypoparathyroidism, type ia 30.2 GNAS GNA15
6 lipoid congenital adrenal hyperplasia 30.2 GNRH1 CYP21A2 CYP19A1
7 hyperandrogenism 30.0 GNRH1 CYP21A2 CYP19A1
8 pseudohermaphroditism 30.0 LHCGR FSHR CYP21A2 CYP19A1
9 idiopathic central precocious puberty 29.9 MKRN3 KISS1R KISS1
10 central precocious puberty 29.9 MKRN3 KISS1R KISS1 GNRH1
11 conn's syndrome 29.8 LHCGR GNRH1 GNAS CYP21A2
12 hypothyroidism 29.8 TSHR GNRH1 GNAS FSHR
13 pituitary adenoma, prolactin-secreting 29.6 GNRHR GNRH1 GNAS
14 infertility 29.6 LHCGR INHA GNRH1 FSHR CYP19A1
15 gynecomastia 29.5 INHA GNRH1 CYP21A2 CYP19A1
16 leydig cell tumor 29.4 LHCGR INHA GNRH1 GNAS CYP21A2 CYP19A1
17 amenorrhea 29.3 LHCGR GNRHR GNRH1 FSHR CYP19A1
18 hypogonadism 29.0 LHCGR KISS1R KISS1 GNRHR GNRH1 CYP19A1
19 hypogonadotropic hypogonadism 28.4 MKRN3 LHCGR KISS1R KISS1 GNRHR GNRH1
20 precocious puberty 28.3 MKRN3 LHCGR KISS1R KISS1 GNRH1 GNAS
21 cortisone reductase deficiency 1 11.5
22 cortisone reductase deficiency 2 11.5
23 spastic paraplegia with precocious puberty 11.5
24 meningitis 10.6
25 aromatase excess syndrome 10.6
26 juvenile type testicular granulosa cell tumor 10.6
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
28 fibrous dysplasia 10.5
29 tuberculous meningitis 10.5
30 hemihyperplasia, isolated 10.4
31 mucinous cystadenofibroma 10.4 LHCGR FSHR
32 diffuse peritoneal leiomyomatosis 10.4 LHCGR GNRH1
33 peritoneal benign neoplasm 10.4 LHCGR GNRH1
34 pseudovaginal perineoscrotal hypospadias 10.3 LHCGR GNRH1
35 helix syndrome 10.3
36 ovarian benign neoplasm 10.3 GNRH1 FSHR
37 nevus, epidermal 10.3
38 hydrocephalus 10.3
39 hypothalamic disease 10.3
40 choriocarcinoma 10.3
41 craniopharyngioma 10.3
42 glioma 10.3
43 glial tumor 10.3
44 aromatase deficiency 10.2 GNRH1 CYP19A1
45 leri-weill dyschondrosteosis 10.2
46 germinoma 10.2
47 embryonal carcinoma 10.2
48 embryonal testis carcinoma 10.2
49 46 xx gonadal dysgenesis 10.2 LHCGR FSHR
50 endometriosis of ovary 10.2 GNRH1 CYP19A1

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



Diseases related to Precocious Puberty, Male-Limited

Symptoms & Phenotypes for Precocious Puberty, Male-Limited

Human phenotypes related to Precocious Puberty, Male-Limited:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
2 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
3 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
4 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
5 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
6 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
7 abnormal hair morphology 31 frequent (33%) HP:0001595
8 macroorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000053
9 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
10 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
11 behavioral abnormality 58 Occasional (29-5%)
12 decreased testicular size 31 HP:0008734
13 abnormality of the hair 58 Frequent (79-30%)
14 precocious puberty in males 31 HP:0008185

Symptoms via clinical synopsis from OMIM:

56
G U:
small testes

Lab:
increased gonadotropin-independent gonadal testosterone secretion
low basal and gonadotropin-releasing hormone-induced secretion of luteinizing hormone (lh)
advanced spermatogenesis on testis biopsy
novel plasma stimulator of testicular testosterone

Endocrine:
male-limited sexual precocity
extremely rapid virilization

Clinical features from OMIM:

176410

MGI Mouse Phenotypes related to Precocious Puberty, Male-Limited:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.22 CYP19A1 FSHR GNAS GNRH1 GNRHR INHA
2 homeostasis/metabolism MP:0005376 10.22 CYP19A1 FSHR GNAS GNRH1 GNRHR INHA
3 growth/size/body region MP:0005378 10.21 CYP19A1 FSHR GNAS GNRH1 GNRHR INHA
4 hematopoietic system MP:0005397 10.15 CYP19A1 CYP21A2 FSHR GNAS GNRH1 INHA
5 immune system MP:0005387 10.11 CYP19A1 CYP21A2 FSHR GNAS GNRH1 INHA
6 digestive/alimentary MP:0005381 10.08 CYP19A1 GNRH1 GNRHR INHA KISS1 KISS1R
7 integument MP:0010771 10.03 CYP19A1 CYP21A2 FSHR GNAS GNRH1 GNRHR
8 adipose tissue MP:0005375 10.02 CYP19A1 FSHR GNAS KISS1 KISS1R LHCGR
9 liver/biliary system MP:0005370 9.95 CYP19A1 GNAS GNRH1 INHA KISS1 KISS1R
10 nervous system MP:0003631 9.92 CYP19A1 FSHR GNAS GNRH1 KISS1 KISS1R
11 normal MP:0002873 9.8 CYP19A1 GNA15 GNAS GNRH1 GNRHR INHA
12 neoplasm MP:0002006 9.77 FSHR GNAS GNRH1 INHA TSHR
13 renal/urinary system MP:0005367 9.7 CYP19A1 GNAS GNRH1 GNRHR KISS1 KISS1R
14 reproductive system MP:0005389 9.61 CYP19A1 FSHR GNRH1 GNRHR INHA KISS1
15 skeleton MP:0005390 9.17 CYP19A1 FSHR GNAS GNRH1 INHA KISS1R

Drugs & Therapeutics for Precocious Puberty, Male-Limited

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
2
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
3 Triptorelin Pamoate Phase 4
4 Prolactin Release-Inhibiting Factors Phase 4
5 Antineoplastic Agents, Hormonal Phase 4
6 Hormones Phase 4
7 Contraceptive Agents Phase 4
8 Central Nervous System Stimulants Phase 4
9 Contraceptives, Oral Phase 4
10
Megestrol Phase 4 3562-63-8 19090 3080587
11 Pharmaceutical Solutions Phase 3
12
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
13
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
14
Testolactone Approved, Investigational Phase 2 968-93-4 13769
15
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
16
Spironolactone Approved Phase 2 52-01-7, 1952-01-7 5833
17
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
18
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
19 Androgen Antagonists Phase 2
20 Aromatase Inhibitors Phase 2
21 Mineralocorticoids Phase 2
22 Mineralocorticoid Receptor Antagonists Phase 2
23 diuretics Phase 2
24 Diuretics, Potassium Sparing Phase 2
25 Estrogen Antagonists Phase 2
26 Estrogen Receptor Antagonists Phase 2
27 Estrogens Phase 2
28
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
29 Hormone Antagonists Phase 1
30
Ganirelix Approved Early Phase 1 123246-29-7, 124904-93-4 25081094
31
Epinephrine Approved, Vet_approved 51-43-4 5816
32
Racepinephrine Approved 329-65-7 838
33
Metformin Approved 657-24-9 14219 4091
34
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
35 Liver Extracts
36 Tin Fluorides
37 Follicle Stimulating Hormone Early Phase 1
38 Tea
39 Androgens
40 Epinephryl borate
41 Acidophilus
42 Bifidobacterium
43 Hypoglycemic Agents

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Analysis of Body Mass Index in Central Precocious Puberty(CPP) Patients Treated With Leuprolide Acetate Unknown status NCT02974270 Phase 4 Leuprolide
2 Analysis of Genetic and Environmental Parameters Influencing Growth Rate of Precocious Puberty Children Unknown status NCT00438217 Phase 4 Triptorelin (GnRH agonists);Leuprolide (GnRH agonists)
3 Triptorelin Acetate Utilization for the Early Diagnosis of Central Precocious Puberty (CPP) in Girls. Unknown status NCT01278290 Phase 4 Triptorelin acetate and Gonadorelin acetate;Gonadorelin acetate and Triptorelin acetate
4 The Phase 4 Clinical Trial to Evaluate the Efficacy and Safety of Luphere Depot Inj. 3.75mg(Leuprolide Acetate 3.75mg) in Patients With Precocious Puberty; A Single, Open, Multi-center, Prospective Study Completed NCT01634321 Phase 4 Luphere depot 3.75mg(Leuprolide acetate 3.75mg)
5 An Open Label, Multicenter Study to Assess the Safety and Efficacy of Leuprorelin in the Treatment of Central Precocious Puberty Completed NCT02427958 Phase 4 Leuprorelin
6 Multi-site Study of Comprehensive Treatment for Children Precocious Puberty Completed NCT02920515 Phase 4 Triptorlin or Leuprorelin;Zhibo dihuang pills;Dabu ying pills
7 A Multicenter, Open, Prospective Study to Evaluate the Safety and Efficacy of Leuprorelin Acetate DPS (Leuplin DPS) Treatment Quarterly in Patients With Central Precocious Puberty Completed NCT03316482 Phase 4 Leuplin DPS 11.25mg
8 Evidence-based Medical Research on the Treatment of Children's Rapid Progressive Central Precocious Puberty With Integrative Chinese and Western Medicine Recruiting NCT03963752 Phase 4 Ziyinxiehuo Granules Herbs;Megestrol Acetate Tablet;Leuprorelin Acetate 3.75mg Injection
9 An Open-label, Non-comparative, Multicenter Study on the Efficacy, Safety, and Pharmacokinetics of Triptorelin Pamoate (Embonate) 22.5 mg 6-month Formulation in Patients Suffering From Central (Gonadotropin-dependent) Precocious Puberty Completed NCT01467882 Phase 3 Triptorelin
10 Follow-up of the Phase III, Multicentre, Non Comparative, One Single Group, Open Study to Assess the Long-term Efficacy and Tolerability of Pamoate of Triptorelin 11.25 mg in Children With Precocious Puberty Completed NCT00909844 Phase 3 Triptorelin (I.N.N.)
11 A Phase 3, Randomized, Multi-Center, Open-Label Study to Evaluate the Efficacy and Safety of Leuprolide Acetate 11.25 and 30 mg Formulations in Children With Central Precocious Puberty Completed NCT00635817 Phase 3 Leuprolide acetate 11.25 mg;Leuprolide acetate 30 mg
12 An Open-label, Single Arm, Multicenter Study on the Efficacy, Safety, and Pharmacokinetics of Leuprolide Acetate 45 mg for Injectable Suspension Controlled Release in Subjects With Central (Gonadotropin-Dependent) Precocious Puberty Completed NCT02452931 Phase 3 Leuprolide Acetate 45 mg
13 Phase III, Multicentre, Non-comparative, Open and Single Stage Study to Assess the Efficacy and Safety of Pamoate of Triptorelin 11.25 MG in Children With Precocious Puberty Completed NCT00564850 Phase 3 Triptorelin pamoate 11.25mg (Decapeptyl® SR)
14 Study of Lupron Depot In The Treatment of Central Precocious Puberty Completed NCT00660010 Phase 3 Lupron (leuprolide acetate)
15 Phase III, Open-Label Study to Evaluate Efficacy and Safety of Histrelin Subdermal Implant in Children With Central Precocious Puberty Completed NCT00779103 Phase 3 Histrelin Subcutaneous Implant
16 A 36 Month, Multi-Center, Open-Label Extension Study to Evaluate the Safety of Leuprolide Acetate 11.25 mg and 30 mg Formulations in Children With Central Precocious Puberty Completed NCT00667446 Phase 3 Leuprolide Acetate 3 Month Depot
17 A Phase 3, Multicenter, Open-Label, Two-Part Study to Evaluate the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Leuprolide Acetate 45mg 6-Month Depot Formulation in Children With Central Precocious Puberty (CPP) Recruiting NCT03695237 Phase 3 Leuprolide Acetate (LA)
18 An Open-label, Non-comparative, Multi-centre Study to Assess the Efficacy and Safety of Bicalutamide When Used in Combination With Anastrozole for the Treatment of Gonadotropin-independent Precocious Puberty in Boys With Testotoxicosis Completed NCT00094328 Phase 2 Bicalutamide;Anastrozole
19 Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
20 Testolactone Treatment of Girls With LHRH Analog-Resistant Precocious Puberty Due to Autonomous, Non-Neoplastic Ovarian Estrogen Secretion Completed NCT00001181 Phase 2 Testolactone
21 An Open-label, Non-Comparative Trial to Evaluate the Safety, Efficacy and Pharmacokinetics of Faslodex (Fulvestrant) in Girls With Progressive Precocious Puberty Associated With McCune-Albright Syndrome Active, not recruiting NCT00278915 Phase 2 Fulvestrant
22 Effects of the Aromatase Inhibitor Letrozole on Pubertal Progression and Indices of Bone Turnover in Girls With Precocious Puberty and McCune-Albright Syndrome (MAS) Completed NCT00006174 Phase 1 Letrozole
23 Influence of Early Adiposity Rebound, Genetic Polymorphisms and GnRHa Treatment on Long-term Outcome of Girls With Idiopathic Central Precocious Puberty. Unknown status NCT02790112
24 LH Response to GnRH Test in Prepubescent Girls Under 6 Years Unknown status NCT01944488 GnRH agonist
25 Follow-up of Girls With Premature Thelarche and Precocious Puberty: a Clinical and Paraclinical Study of Girls With Thelarche and Healthy Controls Unknown status NCT01944475
26 Urinary LH in the Diagnosis of Precocious Puberty Unknown status NCT01800565
27 Adolescence, Puberty, Hormones, and Emotion Regulation: An fMRI Study Completed NCT00016731
28 Polymorphisms in the Kisspeptin/GPR54 Pathway Genes and the Risk of Early Puberty Completed NCT04012632
29 Polymorphisms in Obesity-related Genes Are Associated With Risk of Early Puberty in Han Chinese Girls Completed NCT04317014
30 Purification of Testis-Stimulating Factor in Precocious Puberty Completed NCT00004344 leuprolide;testosterone
31 Effect of a GnRH Injection on Ghrelin Concentrations in Girls With Suspected Precocious Puberty Completed NCT02431416 Gonadotropin releasing hormone (GnRH);Sodium Chloride
32 Efficacy of Experienced Chinese Herbal Formulas for the Treatment of Different Types of Precocious Puberty: A Single-blinded Randomized Controlled Trial Completed NCT02650141 ziyinxiehuo Granules;zishenqinggan Granules
33 Study of Gonadotropin-Releasing Hormone Pulse Frequency in Sexual Maturation and in the Menstrual Cycle Completed NCT00004335
34 Qualitative Assessment of the Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years Completed NCT01679925
35 An Observational, Retrospective Study to Evaluate the Long Term Safety and Effectiveness of Leuprorelin in the Treatment of Central Precocious Puberty Completed NCT02993926 Enantone;GnRH agonist
36 Exploratory Study Aiming at Assessing the Impact of Specific and Controlled Diets Combined With a Fermented Milk Product on Gas-related Symptoms and Associated Measurements in FGID and Non-FGID Subjects Completed NCT02936713
37 The Effect of Medical Clown on the Pain and Anxiety Perception During LRH Analog Treatment or Growth Hormone Provocation Test Completed NCT02199587
38 Follicle-Stimulating Hormone (FSH) and the Onset of Puberty Completed NCT00734279 Early Phase 1 Leuprolide Acetate - Early Puberty Leuprolide Visit;Ganirelix - Early Puberty Ganirelix Visit;Ganirelix - Delayed Puberty Ganirelix Visit;Leuprolide Acetate- Delayed Puberty Leuprolide Visit
39 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
40 The Effect of Childhood Overweight and Obesity and Genetic Factors on Puberty Development: a Prospective Cohort Study Recruiting NCT04113070
41 Molecular Basis of Inherited Reproductive Disorders Recruiting NCT00494169
42 The Effect of Decaffeinated Green Tea Polyphenol Intake on the Risk of Precocious Puberty Among Obese Girls Active, not recruiting NCT03628937
43 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159
44 THE EFFICACY OF PREOPERATIVE USAGE OF GONADOTROPINE-RELEASING HORMONE AGONIST IN PATIENTS UNDERGOING TOTAL LAPAROSCOPIC HYSTERECTOMY DUE TO UTERIN FIBROIDS Not yet recruiting NCT04192812 PREOPERATİVE GnRHa THERAPY (LEUPROLIDE ACETATE) BEFORE SURGERY FOR UTERİN FIBROIDS;NO GnRHa
45 Fermented Milk Product With Probiotic and Its Impact on Mood of Patients With Treatment Resistant Depression Suspended NCT03317678
46 A Double Blind Randomized Controlled 12 Month Trial of Metformin for the Treatment of Premature Pubarche in Girls Terminated NCT01316042 sugar pill;Metformin, glucophage
47 Markers of Adequate Pubertal Suppression During Supprelin LA Therapy for Central Precocious Puberty Terminated NCT02006680

Search NIH Clinical Center for Precocious Puberty, Male-Limited

Cochrane evidence based reviews: puberty, precocious

Genetic Tests for Precocious Puberty, Male-Limited

Genetic tests related to Precocious Puberty, Male-Limited:

# Genetic test Affiliating Genes
1 Gonadotropin-Independent Familial Sexual Precocity 29 LHCGR
2 Precocious Puberty in Males 29

Anatomical Context for Precocious Puberty, Male-Limited

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

40
Testes, Testis, Bone, Liver, Pituitary

Publications for Precocious Puberty, Male-Limited

Articles related to Precocious Puberty, Male-Limited:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. 6 56 61
11857565 2002
2
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. 54 56 6
11391350 2001
3
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. 56 6
10580072 1999
4
Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. 56 6
9703386 1998
5
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 6 56
7692306 1993
6
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. 54 6
11134146 2000
7
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). 6 61
7562970 1995
8
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. 54 6
7892197 1995
9
Familial testotoxicosis in a Chinese family. 56 61
8194554 1994
10
Testicular changes in gonadotropin-independent familial male sexual precocity. Familial testotoxicosis. 61 56
3901957 1985
11
Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. 56 61
3917500 1985
12
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. 61 56
6223935 1983
13
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 6
9661624 1998
14
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. 6
9467560 1998
15
Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. 6
8855841 1996
16
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. 6
8929952 1996
17
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. 6
7714085 1995
18
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. 6
7757065 1995
19
A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. 6
7527413 1994
20
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. 6
8281137 1993
21
A novel testis-stimulating factor in familial male precocious puberty. 56
1898671 1991
22
Treatment of familial male precocious puberty with spironolactone and testolactone. 56
2492636 1989
23
Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. 56
6205273 1984
24
Testicular leydig cell hyperplasia as a cause of familial sexual precocity. 56
6780588 1981
25
Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor. 61 54
20333877 2009
26
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. 61 54
16887451 2006
27
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation. 61
31394950 2020
28
TESTOTOXICOSIS WITH AN EPISODIC COURSE: AN UNUSUAL CASE WITHIN A SERIES. 61
31967000 2019
29
Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. 61
29858851 2018
30
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. 61
29538680 2018
31
Germ Cell Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis. 61
29029242 2017
32
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. 61
27532428 2017
33
Dopa-testotoxicosis: disruptive hypersexuality in hypogonadal men with prolactinomas treated with dopamine agonists. 61
27601019 2017
34
Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. 61
26757946 2016
35
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation. 61
26680572 2016
36
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene". 61
26777051 2015
37
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. 61
26831561 2015
38
Mixed germ cell tumour after testotoxicosis. 61
24467671 2014
39
Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. 61
24790387 2014
40
Behavioral aggressiveness in boys with sexual precocity. 61
22629506 2012
41
[Peripheral precocious puberty: clinical, diagnostic and therapeutical principles]. 61
22119235 2012
42
Aromatase inhibitors in pediatrics. 61
22024975 2011
43
Strategies for maximizing growth in puberty in children with short stature. 61
21981954 2011
44
Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene. 61
21490077 2011
45
Bicalutamide plus anastrozole for the treatment of gonadotropin-independent precocious puberty in boys with testotoxicosis: a phase II, open-label pilot study (BATT). 61
21158211 2010
46
Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. 61
20713483 2010
47
Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty. 61
21060208 2010
48
[Peripheral precocious puberty]. 61
20041371 2009
49
Strategies for maximizing growth in puberty in children with short stature. 61
19717007 2009
50
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis. 61
19492585 2009

Variations for Precocious Puberty, Male-Limited

ClinVar genetic disease variations for Precocious Puberty, Male-Limited:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LHCGR NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)SNV Pathogenic 14384 rs121912518 2:48915203-48915203 2:48688064-48688064
2 LHCGR NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile)SNV Pathogenic 14385 rs121912519 2:48915223-48915223 2:48688084-48688084
3 LHCGR NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile)SNV Pathogenic 14389 rs121912521 2:48915206-48915206 2:48688067-48688067
4 LHCGR NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val)SNV Pathogenic 14390 rs121912522 2:48915221-48915221 2:48688082-48688082
5 LHCGR NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val)SNV Pathogenic 14397 rs121912528 2:48915818-48915818 2:48688679-48688679
6 LHCGR NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)SNV Pathogenic 14402 rs121912531 2:48915312-48915312 2:48688173-48688173
7 LHCGR NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)SNV Pathogenic 14406 rs121912533 2:48915833-48915833 2:48688694-48688694
8 LHCGR NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val)SNV Pathogenic 14407 rs121912534 2:48915233-48915233 2:48688094-48688094
9 LHCGR NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg)SNV Pathogenic 14408 rs121912535 2:48915566-48915566 2:48688427-48688427
10 LHCGR NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)SNV Pathogenic 14412 rs121912540 2:48915245-48915245 2:48688106-48688106
11 LHCGR NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)SNV Pathogenic/Likely pathogenic 14394 rs121912526 2:48915743-48915743 2:48688604-48688604
12 LHCGR NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr)SNV Likely pathogenic 36468 rs121912532 2:48915204-48915204 2:48688065-48688065
13 LHCGR NM_000233.4(LHCGR):c.458+3A>GSNV Conflicting interpretations of pathogenicity 36469 rs76210637 2:48950758-48950758 2:48723619-48723619
14 LHCGR NM_000233.4(LHCGR):c.707C>T (p.Ala236Val)SNV Conflicting interpretations of pathogenicity 897074 2:48925913-48925913 2:48698774-48698774
15 LHCGR NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln)SNV Conflicting interpretations of pathogenicity 895725 2:48952827-48952827 2:48725688-48725688
16 LHCGR NM_000233.4(LHCGR):c.2091A>T (p.Thr697=)SNV Conflicting interpretations of pathogenicity 435750 rs148244033 2:48914845-48914845 2:48687706-48687706
17 LHCGR NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=)SNV Conflicting interpretations of pathogenicity 712503 2:48914983-48914983 2:48687844-48687844
18 LHCGR NM_000233.4(LHCGR):c.561A>G (p.Glu187=)SNV Conflicting interpretations of pathogenicity 710261 2:48941169-48941169 2:48714030-48714030
19 LHCGR NM_000233.4(LHCGR):c.*512C>TSNV Conflicting interpretations of pathogenicity 896920 2:48914324-48914324 2:48687185-48687185
20 LHCGR NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser)SNV Conflicting interpretations of pathogenicity 895595 2:48914841-48914841 2:48687702-48687702
21 LHCGR NM_000233.4(LHCGR):c.1752T>C (p.Pro584=)SNV Conflicting interpretations of pathogenicity 897484 2:48915184-48915184 2:48688045-48688045
22 LHCGR NM_000233.4(LHCGR):c.672G>A (p.Pro224=)SNV Conflicting interpretations of pathogenicity 74646 rs267599401 2:48936095-48936095 2:48708956-48708956
23 LHCGR NM_000233.4(LHCGR):c.681-6G>ASNV Conflicting interpretations of pathogenicity 897075 2:48925945-48925945 2:48698806-48698806
24 LHCGR NM_000233.4(LHCGR):c.161+9A>GSNV Conflicting interpretations of pathogenicity 895727 2:48982641-48982641 2:48755502-48755502
25 LHCGR NM_000233.4(LHCGR):c.*7C>TSNV Conflicting interpretations of pathogenicity 336457 rs200256443 2:48914829-48914829 2:48687690-48687690
26 LHCGR NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro)SNV Conflicting interpretations of pathogenicity 336458 rs199807908 2:48914934-48914934 2:48687795-48687795
27 LHCGR NM_000233.4(LHCGR):c.*577T>ASNV Conflicting interpretations of pathogenicity 336446 rs542577446 2:48914259-48914259 2:48687120-48687120
28 LHCGR NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)SNV Conflicting interpretations of pathogenicity 336461 rs114320052 2:48915576-48915576 2:48688437-48688437
29 LHCGR NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)SNV Conflicting interpretations of pathogenicity 336469 rs140691492 2:48952861-48952861 2:48725722-48725722
30 LHCGR NM_000233.4(LHCGR):c.81G>A (p.Glu27=)SNV Conflicting interpretations of pathogenicity 336470 rs527550554 2:48982730-48982730 2:48755591-48755591
31 LHCGR NM_000233.4(LHCGR):c.54G>A (p.Gln18=)SNV Uncertain significance 336472 rs780848944 2:48982757-48982757 2:48755618-48755618
32 LHCGR NM_000233.4(LHCGR):c.*300T>ASNV Uncertain significance 336451 rs771456886 2:48914536-48914536 2:48687397-48687397
33 LHCGR NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr)SNV Uncertain significance 336463 rs886056147 2:48925809-48925809 2:48698670-48698670
34 LHCGR NM_000233.4(LHCGR):c.384-15T>CSNV Uncertain significance 336467 rs753540458 2:48950850-48950850 2:48723711-48723711
35 LHCGR NM_000233.4(LHCGR):c.*724T>CSNV Uncertain significance 336445 rs886056145 2:48914112-48914112 2:48686973-48686973
36 LHCGR NM_000233.4(LHCGR):c.*273T>CSNV Uncertain significance 336453 rs886056146 2:48914563-48914563 2:48687424-48687424
37 LHCGR NM_000233.4(LHCGR):c.*383C>ASNV Uncertain significance 336449 rs777978092 2:48914453-48914453 2:48687314-48687314
38 LHCGR NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile)SNV Uncertain significance 897485 2:48915561-48915561 2:48688422-48688422
39 LHCGR NM_000233.4(LHCGR):c.1308G>A (p.Gly436=)SNV Uncertain significance 898641 2:48915628-48915628 2:48688489-48688489
40 LHCGR NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro)SNV Uncertain significance 897003 2:48914864-48914864 2:48687725-48687725
41 LHCGR NM_000233.4(LHCGR):c.*443C>TSNV Uncertain significance 896921 2:48914393-48914393 2:48687254-48687254
42 LHCGR NM_000233.4(LHCGR):c.*414T>CSNV Uncertain significance 896922 2:48914422-48914422 2:48687283-48687283
43 LHCGR NM_000233.4(LHCGR):c.*192T>CSNV Uncertain significance 898585 2:48914644-48914644 2:48687505-48687505
44 LHCGR NM_000233.4(LHCGR):c.*182T>CSNV Uncertain significance 898586 2:48914654-48914654 2:48687515-48687515
45 LHCGR NM_000233.4(LHCGR):c.*894G>TSNV Uncertain significance 897354 2:48913942-48913942 2:48686803-48686803
46 LHCGR NM_000233.4(LHCGR):c.*805A>GSNV Uncertain significance 898509 2:48914031-48914031 2:48686892-48686892
47 LHCGR NM_000233.4(LHCGR):c.*747C>ASNV Uncertain significance 898510 2:48914089-48914089 2:48686950-48686950
48 LHCGR NM_000233.4(LHCGR):c.*710A>GSNV Uncertain significance 898511 2:48914126-48914126 2:48686987-48686987
49 LHCGR NM_000233.4(LHCGR):c.*553A>TSNV Uncertain significance 895518 2:48914283-48914283 2:48687144-48687144
50 LHCGR NM_000233.4(LHCGR):c.348C>T (p.Pro116=)SNV Uncertain significance 895726 2:48952850-48952850 2:48725711-48725711

UniProtKB/Swiss-Prot genetic disease variations for Precocious Puberty, Male-Limited:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 LHCGR p.Ala373Val VAR_003553 rs121912528
2 LHCGR p.Met398Thr VAR_003554 rs121912526
3 LHCGR p.Ala568Val VAR_003555 rs121912534
4 LHCGR p.Met571Ile VAR_003556 rs121912519
5 LHCGR p.Ala572Val VAR_003557 rs121912522
6 LHCGR p.Thr577Ile VAR_003558 rs121912521
7 LHCGR p.Asp578Gly VAR_003559 rs121912518
8 LHCGR p.Leu457Arg VAR_010156 rs121912535
9 LHCGR p.Ile542Leu VAR_010157 rs121912531
10 LHCGR p.Asp564Gly VAR_010159 rs121912540
11 LHCGR p.Ile575Leu VAR_010160
12 LHCGR p.Asp578Glu VAR_010161
13 LHCGR p.Asp578Tyr VAR_010163 rs121912532
14 LHCGR p.Cys581Arg VAR_010164
15 LHCGR p.Leu368Pro VAR_062338 rs121912533

Expression for Precocious Puberty, Male-Limited

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

Pathways for Precocious Puberty, Male-Limited

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

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Prolactin signaling pathway hsa04917

Pathways related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TSHR LHCGR KISS1R KISS1 GNRHR GNRH1
2
Show member pathways
13.25 TSHR LHCGR KISS1R KISS1 GNRHR GNRH1
3
Show member pathways
12.77 LHCGR GNRHR GNAS GNA15 FSHR
4 12.04 TSHR LHCGR GNAS FSHR
5
Show member pathways
12 LHCGR GNAS GNA15
6 11.79 TSHR LHCGR GNAS FSHR
7 11.42 KISS1R KISS1 GNRH1
8 11.16 LHCGR GNAS FSHR CYP19A1
9 11.07 GNAS GNA15
10 10.96 TSHR LHCGR GNA15
11 10.93 FSHR CYP19A1
12 10.84 GNAS FSHR
13 10.76 LHCGR INHA FSHR CYP19A1
14 10.14 TSHR LHCGR GNRHR GNRH1 FSHR

GO Terms for Precocious Puberty, Male-Limited

Cellular components related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNAS GNA15

Biological processes related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.81 TSHR LHCGR KISS1R INHA GNRHR GNRH1
2 male gonad development GO:0008584 9.65 LHCGR INHA FSHR
3 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.63 GNAS GNA15 FSHR
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.61 LHCGR GNA15 FSHR
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.56 TSHR LHCGR GNAS FSHR
6 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway GO:0051482 9.54 KISS1 GNA15
7 hormone-mediated signaling pathway GO:0009755 9.54 TSHR LHCGR FSHR
8 sterol metabolic process GO:0016125 9.52 CYP21A2 CYP19A1
9 female gonad development GO:0008585 9.51 FSHR CYP19A1
10 ovarian follicle development GO:0001541 9.5 LHCGR INHA FSHR
11 uterus development GO:0060065 9.49 FSHR CYP19A1
12 ovulation cycle process GO:0022602 9.4 LHCGR FSHR
13 G protein-coupled receptor signaling pathway GO:0007186 9.28 TSHR LHCGR KISS1R KISS1 GNRHR GNRH1
14 activation of adenylate cyclase activity GO:0007190 9.26 TSHR LHCGR GNAS FSHR

Molecular functions related to Precocious Puberty, Male-Limited according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.65 TSHR LHCGR KISS1R GNRHR FSHR
2 steroid hydroxylase activity GO:0008395 9.37 CYP21A2 CYP19A1
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAS GNA15
4 G protein-coupled peptide receptor activity GO:0008528 9.26 TSHR LHCGR KISS1R FSHR
5 guanyl nucleotide binding GO:0019001 9.16 GNAS GNA15
6 protein-hormone receptor activity GO:0016500 8.92 TSHR LHCGR GNRHR FSHR

Sources for Precocious Puberty, Male-Limited

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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