CPP
MCID: CNT075
MIFTS: 52

Central Precocious Puberty (CPP)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Central Precocious Puberty

MalaCards integrated aliases for Central Precocious Puberty:

Name: Central Precocious Puberty 26 60 38 30 6 41 17
Precocious Puberty, Central 13 74
Cpp 26 60
Gonadotropin-Dependent Precocious Puberty 26
Gonadotropin-Dependant Precocious Puberty 60

Characteristics:

Orphanet epidemiological data:

60
central precocious puberty
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

KEGG 38 H02018
ICD10 via Orphanet 35 E22.8
UMLS via Orphanet 75 C0342543
Orphanet 60 ORPHA759
UMLS 74 C0342543

Summaries for Central Precocious Puberty

Genetics Home Reference : 26 Central precocious puberty is a condition that causes early sexual development in girls and boys. While puberty normally starts between ages 8 and 13 in girls and between ages 9 and 14 in boys, girls with central precocious puberty begin exhibiting signs before age 8, and boys with this disorder begin before age 9. Signs of puberty include development of pubic and underarm hair, a rapid increase in height (commonly referred to as a "growth spurt"), acne, and underarm odor. Girls also develop breasts and begin their menstrual periods. Boys have growth of the penis and testes and deepening of the voice. Because of the early growth spurt, children with central precocious puberty may be taller than their peers; however, they may stop growing abnormally early. Without proper treatment, some affected individuals are shorter in adulthood compared with other members of their family. Developing ahead of their peers can be emotionally difficult for affected individuals and may lead to psychological and behavioral problems.

MalaCards based summary : Central Precocious Puberty, also known as precocious puberty, central, is related to idiopathic central precocious puberty and precocious puberty. An important gene associated with Central Precocious Puberty is KISS1R (KISS1 Receptor), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Leuprolide and Deslorelin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and breast, and related phenotypes are isosexual precocious puberty and increased circulating gonadotropin level

Related Diseases for Central Precocious Puberty

Diseases in the Precocious Puberty family:

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

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 idiopathic central precocious puberty 33.0 IGF1 KISS1 KISS1R MKRN3
2 precocious puberty 32.0 GNRH1 KISS1 KISS1R MKRN3
3 hypothalamic hamartomas 31.9 GNRH1 KISS1 KISS1R
4 growth hormone deficiency 30.4 IGF1 IGFBP3
5 hyperandrogenism 30.3 GNRH1 IGF1
6 insulin-like growth factor i 30.2 IGF1 IGFBP3
7 polycystic ovary syndrome 30.0 GNRH1 IGF1
8 slipped capital femoral epiphysis 30.0 IGF1 IGFBP3
9 empty sella syndrome 30.0 GNRH1 IGF1
10 hyperprolactinemia 29.9 GNRH1 IGF1
11 hypogonadotropic hypogonadism 29.5 GNRH1 KISS1 KISS1R
12 hypogonadism 29.5 GNRH1 KISS1 KISS1R
13 prader-willi syndrome 29.4 GNRH1 IGF1 IGFBP3 MKRN3
14 secondary central precocious puberty 12.5
15 papilloma of choroid plexus 12.2
16 precocious puberty, central, 2 11.5
17 precocious puberty, central, 1 11.5
18 chondrocalcinosis 2 11.3
19 atypical choroid plexus papilloma 11.1
20 body mass index quantitative trait locus 1 10.6
21 prostatitis 10.6
22 lipoid congenital adrenal hyperplasia 10.4
23 williams-beuren syndrome 10.2
24 head injury 10.2
25 lubs x-linked mental retardation syndrome 10.2
26 enamel erosion 10.2
27 panic disorder 10.2
28 spondyloenchondrodysplasia 10.2
29 diabetes mellitus, noninsulin-dependent 10.1
30 nevus, epidermal 10.1
31 adrenocortical carcinoma, hereditary 10.1
32 adrenal hypoplasia, congenital 10.1
33 adrenal cortical carcinoma 10.1
34 diabetes mellitus 10.1
35 adrenal cortical adenocarcinoma 10.1
36 sexual disorder 10.1
37 anxiety 10.1
38 arthritis 10.1
39 pseudovaginal perineoscrotal hypospadias 10.1 GNRH1 IGFBP3
40 reproductive system disease 10.0 GNRH1 IGF1
41 pituitary infarct 10.0 GNRH1 IGF1
42 secondary adrenal insufficiency 10.0 IGF1 IGFBP3
43 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGF1 IGFBP3
44 diffuse idiopathic skeletal hyperostosis 10.0 IGF1 IGFBP3
45 marasmus 10.0 IGF1 IGFBP3
46 mammographic density 10.0 IGF1 IGFBP3
47 hyperpituitarism 10.0 IGF1 IGFBP3
48 isolated growth hormone deficiency, type ib 10.0 IGF1 IGFBP3
49 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
50 neurofibromatosis, type i 10.0

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



Diseases related to Central Precocious Puberty

Symptoms & Phenotypes for Central Precocious Puberty

Human phenotypes related to Central Precocious Puberty:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 isosexual precocious puberty 60 33 obligate (100%) Obligate (100%) HP:0008236
2 increased circulating gonadotropin level 60 33 frequent (33%) Frequent (79-30%) HP:0000837
3 overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0001548
4 abnormality of secondary sexual hair 60 33 frequent (33%) Frequent (79-30%) HP:0009888
5 proportionate short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003508
6 accelerated bone age after puberty 60 33 frequent (33%) Frequent (79-30%) HP:0002805
7 premature thelarche 60 33 frequent (33%) Frequent (79-30%) HP:0010314
8 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
9 acne 60 33 occasional (7.5%) Occasional (29-5%) HP:0001061
10 hypothalamic hamartoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002444
11 prenatal maternal abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002686
12 hydrocephalus 60 33 very rare (1%) Very rare (<4-1%) HP:0000238
13 meningitis 60 33 very rare (1%) Very rare (<4-1%) HP:0001287
14 cafe-au-lait spot 60 33 very rare (1%) Very rare (<4-1%) HP:0000957
15 increased body weight 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Central Precocious Puberty:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 GNRH1 IGF1 IGFBP3 KISS1 KISS1R
2 adipose tissue MP:0005375 9.62 IGF1 IGFBP3 KISS1 KISS1R
3 integument MP:0010771 9.55 GNRH1 IGF1 IGFBP3 KISS1 KISS1R
4 liver/biliary system MP:0005370 9.26 GNRH1 IGFBP3 KISS1 KISS1R
5 renal/urinary system MP:0005367 8.92 GNRH1 IGF1 KISS1 KISS1R

Drugs & Therapeutics for Central Precocious Puberty

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leuprolide Approved, Investigational Phase 4,Phase 3 53714-56-0 657181 3911
2 Deslorelin Investigational, Vet_approved Phase 4,Phase 3,Phase 2 57773-65-6
3 Fertility Agents Phase 4,Phase 3
4 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
5 Luteolytic Agents Phase 4,Phase 3
6 Contraceptive Agents Phase 4,Phase 3
7 Hormones Phase 4,Phase 3,Phase 2
8 Prolactin Release-Inhibiting Factors Phase 4
9 Triptorelin Pamoate Phase 4,Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
11 Hormone Antagonists Phase 4,Phase 2
12 Pharmaceutical Solutions Phase 3
13
Testolactone Approved, Investigational Phase 2 968-93-4 13769
14
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
15
Spironolactone Approved Phase 2 52-01-7, 1952-01-7 5833
16 Mineralocorticoid Receptor Antagonists Phase 2
17 Natriuretic Agents Phase 2
18 Mineralocorticoids Phase 2
19 diuretics Phase 2
20 Diuretics, Potassium Sparing Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Analysis of Body Mass Index in Central Precocious Puberty Patients Treated With Leuprolide Acetate Unknown status NCT02974270 Phase 4 Leuprolide
2 Comparative Validation of the Triptorelin Test for the Diagnosis of CPP in Girls Unknown status NCT01278290 Phase 4 Triptorelin acetate and Gonadorelin acetate;Gonadorelin acetate and Triptorelin acetate
3 Analysis of Genetic and Environmental Parameters Influencing Growth Rate of Precocious Puberty Children Unknown status NCT00438217 Phase 4 Triptorelin (GnRH agonists);Leuprolide (GnRH agonists)
4 A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty in Chinese Patients Completed NCT02427958 Phase 4 Leuprorelin
5 Study of Comprehensive Diagnosis and Treatment for Children Precocious Puberty Completed NCT02920515 Phase 4 Triptorlin or Leuprorelin;Zhibo dihuang pills;Dabu ying pills
6 The Clinical Trial to Evaluate the Efficacy and Safety of Luphere Depot Inj. 3.75mg(Leuprolide Acetate 3.75mg) in Patients With Precocious Puberty Completed NCT01634321 Phase 4 Luphere depot 3.75mg(Leuprolide acetate 3.75mg)
7 Leuprorelin Acetate DPS (Leuplin DPS) Treatment Quarterly in Patients With Central Precocious Puberty Recruiting NCT03316482 Phase 4 Leuplin DPS 11.25mg
8 Histrelin Subcutaneous Implant in Children With Central Precocious Puberty Completed NCT00779103 Phase 3 Histrelin Subcutaneous Implant
9 Safety Extension Study Of Leuprolide Acetate (Lupron Depot) In The Treatment Of Central Precocious Puberty Completed NCT00667446 Phase 3 Leuprolide Acetate 3 Month Depot
10 Efficacy, Safety, and Pharmacokinetics (PK) of Triptorelin 6-month Formulation in Patients With Central Precocious Puberty Completed NCT01467882 Phase 3 Triptorelin
11 Study of Lupron Depot In The Treatment of Central Precocious Puberty Completed NCT00660010 Phase 3 Lupron (leuprolide acetate)
12 A Study of Leuprolide 11.25 mg and 30 mg Administered Every 3 Months to Treat Central Precocious Puberty Completed NCT00635817 Phase 3 Leuprolide acetate 11.25 mg;Leuprolide acetate 30 mg
13 Pharmacokinetic Study of Leuprolide Acetate Injectable Suspension in the Treatment of Central Precocious Puberty Completed NCT02452931 Phase 3 Leuprolide Acetate 45 mg
14 A Study to Evaluate Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Leuprolide Acetate 45mg 6-Month Formulation in Children With Central Precocious Puberty (CPP) Recruiting NCT03695237 Phase 3 Leuprolide Acetate (LA)
15 Treatment of Boys With Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
16 Long-term Outcome of GnRH Analogues Treatment of Children With Idiopathic Central Precocious Puberty Unknown status NCT02790112 Not Applicable
17 A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty (CPP) Among Chinese Participants Completed NCT02993926 Leuprorelin
18 Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years Completed NCT01679925
19 Markers of Pubertal Suppression During Therapy for Precocious Puberty Terminated NCT02006680

Search NIH Clinical Center for Central Precocious Puberty

Genetic Tests for Central Precocious Puberty

Genetic tests related to Central Precocious Puberty:

# Genetic test Affiliating Genes
1 Central Precocious Puberty 30

Anatomical Context for Central Precocious Puberty

MalaCards organs/tissues related to Central Precocious Puberty:

42
Testes, Bone, Breast, Pituitary, Brain, Ovary, Pineal

Publications for Central Precocious Puberty

Articles related to Central Precocious Puberty:

(show top 50) (show all 484)
# Title Authors Year
1
Novel DNA variation of GPR54 gene in familial central precocious puberty. ( 30635063 )
2019
2
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. ( 30675365 )
2019
3
One-year treatment with gonadotropin-releasing hormone analogues does not affect body mass index, insulin sensitivity or lipid profile in girls with central precocious puberty. ( 30699070 )
2019
4
Central precocious puberty, functional and tumor-related. ( 30733078 )
2019
5
Development of Prediction Models Using Machine Learning Algorithms for Girls with Suspected Central Precocious Puberty: Retrospective Study. ( 30747712 )
2019
6
Update on central precocious puberty: from etiologies to outcomes. ( 30763521 )
2019
7
Central Precocious Puberty as Presenting Sign of Non-Classical Congenital Adrenal Hyperplasia - Clinical Characteristics. ( 30779848 )
2019
8
Pelvic Ultrasound in Diagnosing and Evaluating the Efficacy of Gonadotropin-Releasing Hormone Agonist Therapy in Girls With Idiopathic Central Precocious Puberty. ( 30804790 )
2019
9
Serum Makorin ring finger protein 3 values for predicting Central precocious puberty in girls. ( 30806524 )
2019
10
Central precocious puberty in girls: Diagnostic study and auxological response to triptorelin treatment. ( 30808564 )
2019
11
Incidence and Prevalence of Central Precocious Puberty in Korea: An Epidemiologic Study Based on a National Database. ( 30857777 )
2019
12
Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery. ( 30862670 )
2019
13
CENTRAL PRECOCIOUS PUBERTY CAUSED BY A HETEROZYGOUS DELETION IN THE MKRN3 PROMOTER REGION. ( 29763903 )
2018
14
Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. ( 29858851 )
2018
15
Herbal medicine for idiopathic central precocious puberty: A protocol for a systematic review of controlled trials. ( 29595688 )
2018
16
Gonadotropin-Releasing Hormone (GnRHa) Therapy for Central Precocious Puberty (CPP): Review of Nuances in Assessment of Height, Hormonal Suppression, Psychosocial Issues, and Weight Gain, with Patient Examples. ( 29806750 )
2018
17
Subnormal Growth Velocity And Related Factors During GnRH Analog Therapy For Idiopathic Central Precocious Puberty. ( 29687783 )
2018
18
Investigation of <i>MKRN3</i> mutation in patients with familial central precocious puberty. ( 29537379 )
2018
19
Evaluation of characteristics of the craniofacial complex and dental maturity in girls with central precocious puberty. ( 29708396 )
2018
20
The prevalence of brain abnormalities in boys with central precocious puberty may be overestimated. ( 29614125 )
2018
21
Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study. ( 29801469 )
2018
22
LHCGR Gene Analysis in Girls with Non-Classic Central Precocious Puberty. ( 29506309 )
2018
23
Review and evaluation of patient-centered psychosocial assessments for children with central precocious puberty or early puberty. ( 29649000 )
2018
24
Prevalence of cranial MRI findings in girls with central precocious puberty: a systematic review and meta-analysis. ( 29902155 )
2018
25
Etiological trends in male central precocious puberty. ( 29969878 )
2018
26
Predictors of bone maturation, growth rate and adult height in children with central precocious puberty treated with depot leuprolide acetate. ( 29750651 )
2018
27
Longitudinal follow-up to near final height of auxological changes in girls with idiopathic central precocious puberty treated with gonadotropin-releasing hormone analog and grouped by pretreatment body mass index level. ( 29609441 )
2018
28
Presentation of central precocious puberty in two patients with Tay-Sachs disease. ( 29943104 )
2018
29
Triptorelin depot for the treatment of children 2 years and older with central precocious puberty. ( 29957076 )
2018
30
Central precocious puberty in Boston boys: A 10-year single center experience. ( 29949619 )
2018
31
Triptorelin (Triptodur) for central precocious puberty. ( 29294465 )
2018
32
Association between bisphenol a exposure and idiopathic central precocious puberty (ICPP) among school-aged girls in Shanghai, China. ( 29650233 )
2018
33
Comparison of two bone markers with growth evolution in 74 girls with central precocious puberty. ( 29986677 )
2018
34
Serum levels of LH, IGF-1 and leptin in girls with idiopathic central precocious puberty (ICPP) and the correlations with the development of ICPP. ( 30037185 )
2018
35
Toward More Targeted and Cost-Effective Gonadotropin-Releasing Hormone Analog Treatment in Girls with Central Precocious Puberty. ( 30048994 )
2018
36
Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty. ( 30066730 )
2018
37
The clinical effects of gonadotropin-releasing hormone agonists for the treatment of children patients with central precocious puberty. ( 30070338 )
2018
38
Central precocious puberty: From genetics to treatment. ( 30086862 )
2018
39
Serum Osteocalcin Levels in Girls with Central Precocious Puberty: Relation to the Onset of Puberty. ( 30089739 )
2018
40
Increased final adult height by gonadotropin-releasing hormone agonist in girls with idiopathic central precocious puberty. ( 30133462 )
2018
41
Central Precocious Puberty in a Child With Metachromatic Leukodystrophy. ( 30197627 )
2018
42
Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls. ( 30249230 )
2018
43
MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study. ( 30269125 )
2018
44
Resistin levels are not associated with obesity in central precocious puberty. ( 30273692 )
2018
45
A mathematical model for predicting the adult height of girls with idiopathic central precocious puberty: A European validation. ( 30300409 )
2018
46
High prevalence of syndromic disorders in patients with non-isolated central precocious puberty. ( 30324796 )
2018
47
Arterial Spin Labeling and Central Precocious Puberty. ( 30397727 )
2018
48
Methylome profiling of healthy and central precocious puberty girls. ( 30466473 )
2018
49
Prevalence of Pathological Brain Lesions in Girls with Central Precocious Puberty: Possible Overestimation? ( 30546283 )
2018
50
Serum inhibin B concentration as a predictor of age at first menstruation in girls with idiopathic central precocious puberty. ( 30550563 )
2018

Variations for Central Precocious Puberty

ClinVar genetic disease variations for Central Precocious Puberty:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KISS1R NM_032551.4(KISS1R): c.1157G> C (p.Arg386Pro) single nucleotide variant Likely pathogenic rs121908499 GRCh37 Chromosome 19, 920708: 920708
2 KISS1R NM_032551.4(KISS1R): c.1157G> C (p.Arg386Pro) single nucleotide variant Likely pathogenic rs121908499 GRCh38 Chromosome 19, 920708: 920708

Expression for Central Precocious Puberty

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

Pathways for Central Precocious Puberty

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

# Super pathways Score Top Affiliating Genes
1 10.98 IGF1 IGFBP3
2 9.95 IGF1 IGFBP3

GO Terms for Central Precocious Puberty

Cellular components related to Central Precocious Puberty according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 GNRH1 IGF1 IGFBP3 KISS1
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
3 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.33 GNRH1 IGFBP3 KISS1
2 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.96 IGF1 IGFBP3
3 positive regulation of MAPK cascade GO:0043410 8.8 IGF1 IGFBP3 KISS1

Molecular functions related to Central Precocious Puberty according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 GNRH1 IGF1

Sources for Central Precocious Puberty

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