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MCID: PRC019
MIFTS: 46

Precocious Puberty

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Precocious Puberty

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MalaCards integrated aliases for Precocious Puberty:

Name: Precocious Puberty 19 75 28 5 71 31
Cryptogenic Sexual Precocity 71
Familial Precocious Puberty 19
Idiopathic Sexual Precocity 19
Puberty Precocious 53
Sexual Precocity 19

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

ICD10 31 E30.1
UMLS 71 C0034013 C0271527
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Summaries for Precocious Puberty

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GARD: 19 Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of Precocious puberty is not always known. Some cases of Precocious puberty are due to conditions that cause changes in the body's release of hormones.

MalaCards based summary: Precocious Puberty, also known as cryptogenic sexual precocity, is related to central precocious puberty and idiopathic central precocious puberty. An important gene associated with Precocious Puberty is LOC100507346 (Uncharacterized LOC100507346), and among its related pathways/superpathways are GPCR downstream signalling and Class A/1 (Rhodopsin-like receptors). The drugs Megestrol acetate and Leuprolide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testis, and related phenotypes are growth/size/body region and renal/urinary system

Wikipedia: 75 In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the... more...
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Related Diseases for Precocious Puberty

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Diseases in the Precocious Puberty family:

Precocious Puberty, Central, 1 Precocious Puberty, Central, 2
Central Precocious Puberty Secondary Central Precocious Puberty
Rare Precocious Puberty

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

(show top 50) (show all 609)
# Related Disease Score Top Affiliating Genes
1 central precocious puberty 33.0 MKRN3 KISS1R GNRH1
2 idiopathic central precocious puberty 32.6 MKRN3 KISS1R
3 mccune-albright syndrome 32.3 GNAS GH1
4 precocious puberty, male-limited 32.0 MKRN3 LHCGR KISS1R GNRH1 GNAS CYP21A2
5 septooptic dysplasia 31.5 KISS1R GNRH1 GH1
6 ovarian cyst 31.0 GNRH1 GNAS
7 lipoid congenital adrenal hyperplasia 31.0 LHCGR GNRH1 CYP21A2
8 leydig cell tumor 30.8 LHCGR GNRH1 CYP21A2
9 adrenal hypoplasia, congenital 30.7 GNRH1 CYP21A2
10 hypogonadism 30.7 LHCGR KISS1R GNRH1 GH1
11 fibrous dysplasia 30.6 GNAS GH1
12 hypothyroidism 30.6 GNRH1 GNAS GH1
13 central diabetes insipidus 30.6 GNRH1 GH1
14 polycystic ovary syndrome 30.6 LHCGR GNRH1 GH1 CYP21A2
15 empty sella syndrome 30.6 GNRH1 GH1
16 hyperandrogenism 30.5 GNRH1 GH1 CYP21A2
17 hypogonadotropic hypogonadism 30.5 MKRN3 LHCGR KISS1R GNRH1 CYP21A2
18 prader-willi syndrome 30.4 MKRN3 GNRH1 GH1
19 adrenal adenoma 30.4 GNAS CYP21A2
20 hyperprolactinemia 30.4 GNRH1 GNAS GH1
21 adenoma 30.3 LHCGR GNAS GH1
22 pseudohermaphroditism 30.3 LHCGR GNRH1 CYP21A2
23 hypothalamic disease 30.2 GNRH1 GH1
24 overgrowth syndrome 30.1 PTCH1 LOC100507346
25 pituitary tumors 30.1 GNAS GH1
26 normosmic congenital hypogonadotropic hypogonadism 30.1 KISS1R GNRH1
27 temple syndrome 30.0 MKRN3 GNAS
28 anovulation 30.0 LHCGR GNRH1 CYP21A2
29 gender incongruence 30.0 GNRH1 CYP21A2
30 pituitary adenoma 30.0 GNRH1 GNAS GH1
31 cryptorchidism, unilateral or bilateral 29.9 MKRN3 LHCGR KISS1R GNRH1 CYP21A2
32 premature menopause 29.9 MKRN3 LHCGR KISS1R GNRH1 CYP21A2
33 functioning pituitary adenoma 29.9 GNAS GH1
34 leydig cell hypoplasia 29.9 LHCGR KISS1R GNRH1
35 congenital hypothyroidism 29.9 GNAS GH1 CYP21A2
36 pituitary gland disease 29.8 GNRH1 GNAS GH1
37 46,xy sex reversal 29.8 LHCGR GNRH1 CYP21A2
38 acromegaly 29.7 GNRH1 GNAS GH1
39 conn's syndrome 29.7 LHCGR GNRH1 GNAS GH1 CYP21A2
40 congenital hydrocephalus 29.6 PTCH1 LOC100507346
41 polydactyly, postaxial, type a1 29.6 PTCH1 LOC100507346
42 prolactinoma 29.5 GNRH1 GNAS GH1
43 body mass index quantitative trait locus 11 29.4 GNRH1 GNAS GH1 CYP21A2
44 kallmann syndrome 29.2 PTCH1 MKRN3 LHCGR KISS1R GNRH1
45 precocious puberty, central, 2 11.9
46 precocious puberty, central, 1 11.8
47 spastic paraplegia with precocious puberty 11.8
48 precocious puberty, gonadotropin-dependent 11.7
49 aromatase excess syndrome 11.4
50 pallister-hall syndrome 11.3

Graphical network of the top 20 diseases related to Precocious Puberty:



Diseases related to Precocious Puberty
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Symptoms & Phenotypes for Precocious Puberty

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MGI Mouse Phenotypes related to Precocious Puberty:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 CYP21A2 GH1 GNAS GNRH1 KISS1R LHCGR
2 renal/urinary system MP:0005367 9.91 GH1 GNAS GNRH1 KISS1R LHCGR PTCH1
3 liver/biliary system MP:0005370 9.8 GH1 GNAS GNRH1 KISS1R LHCGR
4 endocrine/exocrine gland MP:0005379 9.8 GH1 GNAS GNRH1 KISS1R LHCGR PTCH1
5 immune system MP:0005387 9.7 CYP21A2 GH1 GNAS GNRH1 KISS1R LHCGR
6 digestive/alimentary MP:0005381 9.65 GNAS GNRH1 KISS1R LHCGR PTCH1
7 reproductive system MP:0005389 9.43 GH1 GNRH1 KISS1R LHCGR MKRN3 PTCH1
8 hematopoietic system MP:0005397 9.17 CYP21A2 GH1 GNAS GNRH1 KISS1R LHCGR
Sources

Drugs & Therapeutics for Precocious Puberty

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
2
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181
3
Megestrol Phase 4 3562-63-8 3080587 19090
4 Central Nervous System Stimulants Phase 4
5 Contraceptives, Oral, Hormonal Phase 4
6 Contraceptives, Oral Phase 4
7 Antineoplastic Agents, Hormonal Phase 4
8 Hormone Antagonists Phase 3
9 Prolactin Release-Inhibiting Factors Phase 3
10 Pharmaceutical Solutions Phase 3
11 Contraceptive Agents Phase 3
12
Triptorelin Pamoate Phase 3
13
(R)-Bicalutamide Approved, Experimental Phase 2 90357-06-5, 113299-40-4 2375
14
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
15
Testolactone Approved, Investigational Phase 2 968-93-4 13769
16
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
17
Testosterone Approved, Investigational Phase 2 58-22-0 5408 6013
18
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
19
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6 25077495
20 Androgen Antagonists Phase 2
21 Aromatase Inhibitors Phase 2
22 Diuretics, Potassium Sparing Phase 2
23 diuretics Phase 2
24 Mineralocorticoids Phase 2
25 Mineralocorticoid Receptor Antagonists Phase 2
26 Estrogens Phase 2
27 Estrogen Receptor Antagonists Phase 2
28 Estrogen Antagonists Phase 2
29
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
30
Ganirelix Approved Early Phase 1 124904-93-4 44208957 16186319 16130966
31
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
32
Metformin Approved 1115-70-4, 657-24-9 4091
33 Tin Fluorides
34 Liver Extracts
35 Follicle Stimulating Hormone Early Phase 1
36 Androgens
37 Epinephryl borate
38 Tea
39 Hormones
40 Hypoglycemic Agents

Interventional clinical trials:

(show top 50) (show all 55)
# 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 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
4 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
5 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)
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 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
8 An Open Label, Multicenter, Single-arm and Prospective Study to Assess the Efficacy and Safety of Leuprorelin 3M in the Treatment of Central Precocious Puberty (CPP) Not yet recruiting NCT05341115 Phase 4 Leuprorelin Acetate Depot 3M
9 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
10 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
11 An Open-label, Multicentre, Single Arm Study to Assess the Efficacy and Safety of Triptorelin 3-month Formulation in Chinese Children With Central Precocious Puberty Completed NCT04736602 Phase 3 Triptorelin pamoate 15mg
12 Study of Lupron Depot In The Treatment of Central Precocious Puberty Completed NCT00660010 Phase 3 Lupron (leuprolide acetate)
13 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
14 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)
15 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.)
16 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
17 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
18 Triptorelin Acetate Utilization for the Early Diagnosis of Central Precocious Puberty (CPP) in Girls. Completed NCT01278290 Phase 3
19 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) Active, not recruiting NCT03695237 Phase 3 Leuprolide Acetate (LA)
20 A Phase III, Open-label, Multicentre, Single Arm Study to Assess the Efficacy and Safety of the Triptorelin 6-month Formulation in Chinese Paediatric Participants With Central Precocious Puberty. Active, not recruiting NCT05029622 Phase 3 Triptorelin Pamoate
21 An Open-label, Single Arm, Multicenter, Phase III Study on the Efficacy, Safety, and Pharmacokinetics of FP-001 42 mg Controlled Release in Patients With Central (Gonadotropin-Dependent) Precocious Puberty Not yet recruiting NCT05493709 Phase 3 Leuprolide Mesylate, Subcutaneous injection of 42 mg Leuprolide
22 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
23 Testolactone Treatment of Girls With LHRH Analog-Resistant Precocious Puberty Due to Autonomous, Non-Neoplastic Ovarian Estrogen Secretion Completed NCT00001181 Phase 2 Testolactone
24 Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
25 An Open-label Study Evaluating the Safety and Efficacy of Anastrozole™ (ARIMIDEX) in the Treatment of Precocious Puberty in Girls With McCune-Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
26 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
27 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
28 A Randomized, Single-blinded, Parallel Design Phase I Clinical Trial to Investigate the Safety and Pharmacokinetics/Pharmacodynamics of CKD-841 A-1, CKD-841 D or Leuplin Inj. After Subcutaneous Injection in Postmenopausal Female Not yet recruiting NCT04840745 Phase 1 CKD-841 A-1 3.75mg;CKD-841 A-1 1.88mg;CKD-841 D 2.92mg;Leuplin Inj. 3.75 mg
29 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
30 Influence of Early Adiposity Rebound, Genetic Polymorphisms and GnRHa Treatment on Long-term Outcome of Girls With Idiopathic Central Precocious Puberty. Unknown status NCT02790112
31 Urinary LH in the Diagnosis of Precocious Puberty Unknown status NCT01800565
32 THE EFFICACY OF PREOPERATIVE USAGE OF GONADOTROPINE-RELEASING HORMONE AGONIST IN PATIENTS UNDERGOING TOTAL LAPAROSCOPIC HYSTERECTOMY DUE TO UTERIN FIBROIDS Unknown status NCT04192812 PREOPERATİVE GnRHa THERAPY (LEUPROLIDE ACETATE) BEFORE SURGERY FOR UTERİN FIBROIDS;NO GnRHa
33 LH Response to GnRH Test in Prepubescent Girls Under 6 Years Unknown status NCT01944488 GnRH agonist
34 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
35 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
36 Effect of a GnRH Injection on Ghrelin Concentrations in Girls With Suspected Precocious Puberty Completed NCT02431416 Gonadotropin releasing hormone (GnRH);Sodium Chloride
37 Purification of Testis-Stimulating Factor in Precocious Puberty Completed NCT00004344 leuprolide;testosterone
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 Study of Gonadotropin-Releasing Hormone Pulse Frequency in Sexual Maturation and in the Menstrual Cycle Completed NCT00004335
40 The Effect of Medical Clown on the Pain and Anxiety Perception During LRH Analog Treatment or Growth Hormone Provocation Test Completed NCT02199587
41 Molecular Basis of Inherited Reproductive Disorders Completed NCT00494169
42 Polymorphisms in the Kisspeptin/GPR54 Pathway Genes and the Risk of Early Puberty Completed NCT04012632
43 Polymorphisms in Obesity-related Genes Are Associated With Risk of Early Puberty in Han Chinese Girls Completed NCT04317014
44 Qualitative Assessment of the Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years Completed NCT01679925
45 The Effect of Childhood Overweight and Obesity and Genetic Factors on Puberty Development: a Prospective Cohort Study Recruiting NCT04113070
46 Effect of Prevalence of Overweight and Obesity(Body Mass Index (BMI)) on Efficacy of Herbal Medicines(ZiYinXieHuo) in Girls' Sexual Precocity Recruiting NCT04665713
47 The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate Recruiting NCT01601171
48 Natural History Study of Patients With Excess Androgen Recruiting NCT00250159
49 Effect of Exogenous Growth Hormone on Ocular Findings of Children With Precocious and Early Puberty: a Prospective Cohort Study Recruiting NCT05338411
50 Evaluation of the Correlation Between Psychological Intervention, Including Providing Knowledge and Tools for Problems Solving, and the Anxiety Level of Female Patients Arriving to ACTH LRH Test - Pilot Study Recruiting NCT04502836

Search NIH Clinical Center for Precocious Puberty

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Gonadorelin
Gonadorelin Acetate
Gonadorelin Hydrochloride
Leuprolide
Leuprolide Acetate
Nafarelin
Nafarelin Acetate
Tamoxifen
Tamoxifen Citrate
Sources

Genetic Tests for Precocious Puberty

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Genetic tests related to Precocious Puberty:

# Genetic test Affiliating Genes
1 Precocious Puberty 28
Sources

Anatomical Context for Precocious Puberty

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Organs/tissues related to Precocious Puberty:

MalaCards : Pituitary, Brain, Testis, Bone, Ovary, Pineal, Hypothalamus
Sources

Publications for Precocious Puberty

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Articles related to Precocious Puberty:

(show top 50) (show all 4690)
# Title Authors PMID Year
1
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. 53 62
20389100 2010
2
Thyroid autoimmunity and miscarriages: the corpus luteum hypothesis. 53 62
19505771 2009
3
No activating mutations of FSH receptor in four children with ovarian juvenile granulosa cell tumors and the association of these tumors with central precocious puberty. 53 62
19539204 2009
4
Body mass index and body composition in adolescents treated with gonadotropin-releasing hormone analogue triptorelin depot for central precocious puberty: data at near final height. 53 62
19176945 2009
5
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. 53 62
19339795 2009
6
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation. 53 62
18414894 2009
7
Subcutaneous gonadotropin-releasing hormone agonist (triptorelin) test for diagnosing precocious puberty. 53 62
19690429 2009
8
[Advances on related genes with sexual precocity in mammals]. 53 62
19138897 2009
9
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty. 53 62
19209621 2008
10
[Relationship of plasma ghrelin and adenohypophyseal hormone levels in female precocious puberty]. 53 62
18925720 2008
11
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen. 53 62
18300543 2008
12
Diversity of actions of GnRHs mediated by ligand-induced selective signaling. 53 62
17976709 2008
13
Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests. 53 62
18045276 2007
14
Leuprolide acetate: a drug of diverse clinical applications. 53 62
17970643 2007
15
Luteinizing hormone (LH) and estradiol suppression and growth in girls with central precocious puberty: is more suppression better? Are pre-injection LH levels useful in monitoring treatment? 53 62
18183790 2007
16
Early maturation of gonadotropin-releasing hormone secretion and sexual precocity after exposure of infant female rats to estradiol or dichlorodiphenyltrichloroethane. 53 62
17596564 2007
17
Serum sex hormone-binding globulin levels in healthy children and girls with precocious puberty before and during gonadotropin-releasing hormone agonist treatment. 53 62
17519314 2007
18
Efficacy of combined treatment with growth hormone and gonadotropin releasing hormone analogue in children with poor prognosis of adult height. 53 62
17684302 2007
19
Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. 53 62
17609410 2007
20
Regulation of circulating leptin and its soluble receptor during pubertal development in the male rhesus monkey (Macaca mulatta). 53 62
17873322 2007
21
Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor. 53 62
17055147 2007
22
Recurrent anaphylaxis associated with gonadotropin-releasing hormone analogs: case report and review of the literature. 53 62
17125443 2006
23
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 53 62
17101633 2006
24
A constitutively active mutant of the human lutropin receptor (hLHR-L457R) escapes lysosomal targeting and degradation. 53 62
16803865 2006
25
A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty. 53 62
16918965 2006
26
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. 53 62
16887451 2006
27
Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function. 53 62
16757104 2006
28
Management of short stature with GnRH agonist and co-treatment with growth hormone: a controversial issue. 53 62
16787697 2006
29
Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche. 53 62
16728550 2006
30
McCune-Albright syndrome: growth hormone and prolactin hypersecretion. 53 62
16789626 2006
31
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency. 53 62
16921705 2006
32
Gonadotropin-releasing hormone analog therapy for central precocious puberty and other childhood disorders affecting growth and puberty. 53 62
17002488 2006
33
The histrelin implant: a novel treatment for central precocious puberty. 53 62
16322137 2005
34
Control of puberty by excitatory amino acid neurotransmitters and its clinical implications. 53 62
16388117 2005
35
The gonadotrophins response to GnRH test is not a predictor of neurological lesion in girls with central precocious puberty. 53 62
16279361 2005
36
Leptin changes in Taiwanese girls with central precocious puberty before and during the GnRH agonist treatment. 53 62
16640001 2005
37
Prolactin secretion before, during, and after chronic gonadotropin-releasing hormone agonist treatments in children. 53 62
16169408 2005
38
New developments in the use of peptide gonadotropin-releasing hormone antagonists versus agonists. 53 62
16144493 2005
39
Antagonistic and agonistic GnRH analogue treatment of precocious puberty: tracking gonadotropin concentrations in urine. 53 62
15995342 2005
40
Gonadotropin-releasing hormone analogue treatment for precocious puberty. Twenty years of experience. 53 62
15722620 2005
41
Non-peptidic GnRH receptor antagonists. 53 62
15544487 2004
42
[Simplified gonadorelin stimulation test in diagnosis of precocious puberty]. 53 62
15476332 2004
43
Activating GNAS1 gene mutations in patients with premature thelarche. 53 62
15289771 2004
44
[Clinical application of simplified gonadotropin releasing hormone stimulating test in management of female isosexual precocious puberty]. 53 62
15312320 2004
45
Clinical and molecular analysis of human reproductive disorders in Brazilian patients. 53 62
14689055 2004
46
Aromatase inhibitors in precocious puberty: rationale and experience to date. 53 62
16026110 2004
47
Lack of efficacy of fadrozole in treating precocious puberty in girls with the McCune-Albright syndrome. 53 62
14671160 2003
48
Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature. 53 62
13680381 2003
49
Serum insulin-like growth factor (IGF)-I and IGF-binding protein-3 in girls with premature thelarche. 53 62
12948294 2003
50
Final adult height in "early normal pubertal girls" treated with gonadotropin releasing hormone agonists. 53 62
12929985 2003
Sources

Variations for Precocious Puberty

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ClinVar genetic disease variations for Precocious Puberty:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) DEL Pathogenic
 997831 rs1840113211 GRCh37: 9:98229690-98229693
GRCh38: 9:95467408-95467411
Sources

Expression for Precocious Puberty

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Search GEO for disease gene expression data for Precocious Puberty.
Sources

Pathways for Precocious Puberty

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Pathways related to Precocious Puberty according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
GPCR downstream signalling 66
Show member pathways
 12.99 PTCH1 LHCGR KISS1R GNRH1 GNAS
2
Class A/1 (Rhodopsin-like receptors) 66
Show member pathways
 12.48 PTCH1 LHCGR KISS1R GNRH1 GNAS
3
G-Beta Gamma Signaling 64
Show member pathways
 12.16 PTCH1 GNAS GH1
4
Prader-Willi and Angelman syndrome 74
11.15 MKRN3 GNRH1
5
G-protein signaling_RhoA regulation pathway 22
11.12 GNRH1 GNAS GH1
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.75 PTCH1 GNAS
7
Hormone ligand-binding receptors 66
9.7 LHCGR GNRH1
Sources

GO Terms for Precocious Puberty

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Biological processes related to Precocious Puberty according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.5 PTCH1 LHCGR KISS1R GNRH1 GNAS GH1
2 activation of adenylate cyclase activity GO:0007190 9.33 LHCGR GNAS
3 negative regulation of multicellular organism growth GO:0040015 8.8 PTCH1 GNAS
Sources

Sources for Precocious Puberty

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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