MCID: CNT075
MIFTS: 51

Central Precocious Puberty

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

Aliases & Classifications for Central Precocious Puberty

MalaCards integrated aliases for Central Precocious Puberty:

Name: Central Precocious Puberty 25 59 37 29 6 40
Precocious Puberty, Central 13 73
Cpp 25 59
Gonadotropin-Dependent Precocious Puberty 25
Gonadotropin-Dependant Precocious Puberty 59

Characteristics:

Orphanet epidemiological data:

59
central precocious puberty
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA759
UMLS via Orphanet 74 C0342543
ICD10 via Orphanet 34 E22.8
KEGG 37 H02018
UMLS 73 C0342543

Summaries for Central Precocious Puberty

Genetics Home Reference : 25 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 hypothalamic hamartomas. 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, breast and bone, 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 97)
# Related Disease Score Top Affiliating Genes
1 idiopathic central precocious puberty 31.8 IGF1 KISS1 KISS1R MKRN3
2 hypothalamic hamartomas 31.6 GNRH1 KISS1 KISS1R
3 precocious puberty 31.2 GNRH1 KISS1 KISS1R MKRN3
4 growth hormone deficiency 29.8 IGF1 IGFBP3
5 hyperandrogenism 29.7 GNRH1 IGF1
6 slipped capital femoral epiphysis 29.6 IGF1 IGFBP3
7 empty sella syndrome 29.5 GNRH1 IGF1
8 insulin-like growth factor i 29.5 IGF1 IGFBP3
9 hyperprolactinemia 29.4 GNRH1 IGF1
10 polycystic ovary syndrome 29.3 GNRH1 IGF1
11 hypogonadotropism 29.2 GNRH1 KISS1 KISS1R
12 hypogonadotropic hypogonadism 29.2 GNRH1 KISS1 KISS1R
13 hypogonadism 29.2 GNRH1 KISS1 KISS1R
14 prader-willi syndrome 28.1 GNRH1 IGF1 IGFBP3 MKRN3
15 secondary central precocious puberty 12.4
16 papilloma of choroid plexus 12.0
17 precocious puberty, central, 2 11.4
18 precocious puberty, central, 1 11.3
19 chondrocalcinosis 2 11.1
20 atypical choroid plexus papilloma 10.9
21 body mass index quantitative trait locus 1 10.4
22 aging 10.3
23 prostatitis 10.3
24 paine syndrome 10.3
25 vaginitis 10.2
26 47, xxy 10.2
27 lipoid congenital adrenal hyperplasia 10.2
28 penis agenesis 10.2 GNRH1 IGFBP3
29 williams-beuren syndrome 10.1
30 diabetes mellitus, noninsulin-dependent 10.0
31 adrenal hypoplasia, congenital 10.0
32 nevus, epidermal 10.0
33 diabetes mellitus 10.0
34 premature ovarian failure 1 9.9 GNRH1 IGFBP3
35 reproductive system disease 9.9 GNRH1 KISS1
36 tay-sachs disease 9.9
37 thyroiditis 9.9
38 neonatal diabetes mellitus 9.9
39 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
40 hypophosphatemic rickets, x-linked recessive 9.9
41 type i 9.9
42 neurofibromatosis, type i 9.9
43 epilepsy 9.9
44 triple x syndrome 9.9
45 neurofibromatosis, type iv, of riccardi 9.9
46 isolated gonadotropin-releasing hormone deficiency 9.9
47 langerhans cell histiocytosis 9.9
48 mccune-albright syndrome 9.9
49 astrocytoma 9.9
50 rhabdomyosarcoma 9.9

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 isosexual precocious puberty 59 32 obligate (100%) Obligate (100%) HP:0008236
2 increased circulating gonadotropin level 59 32 frequent (33%) Frequent (79-30%) HP:0000837
3 overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0001548
4 accelerated bone age after puberty 59 32 frequent (33%) Frequent (79-30%) HP:0002805
5 proportionate short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003508
6 abnormality of secondary sexual hair 59 32 frequent (33%) Frequent (79-30%) HP:0009888
7 premature thelarche 59 32 frequent (33%) Frequent (79-30%) HP:0010314
8 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
9 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
10 hypothalamic hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002444
11 prenatal maternal abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002686
12 hydrocephalus 59 32 very rare (1%) Very rare (<4-1%) HP:0000238
13 cafe-au-lait spot 59 32 very rare (1%) Very rare (<4-1%) HP:0000957
14 meningitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001287
15 increased body weight 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Central Precocious Puberty:

46
# 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 9.02 GNRH1 IGF1 IGFBP3 KISS1 KISS1R

Drugs & Therapeutics for Central Precocious Puberty

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

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

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 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
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 Study of Comprehensive Diagnosis and Treatment for Children Precocious Puberty Completed NCT02920515 Phase 4 Triptorlin or Leuprorelin;Zhibo dihuang pills;Dabu ying pills
4 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)
5 Leuprorelin Acetate DPS (Leuplin DPS) Treatment Quarterly in Patients With Central Precocious Puberty Recruiting NCT03316482 Phase 4 Leuplin DPS 11.25mg
6 Analysis of Body Mass Index in Central Precocious Puberty Patients Treated With Leuprolide Acetate Recruiting NCT02974270 Phase 4 Leuprolide
7 A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty in Chinese Patients Active, not recruiting NCT02427958 Phase 4 Leuprorelin
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 Active, not recruiting NCT02452931 Phase 3 Leuprolide Acetate 45 mg
14 Treatment of Boys With Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
15 Markers of Pubertal Suppression During Therapy for Precocious Puberty Unknown status NCT02006680
16 Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years Completed NCT01679925
17 A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty (CPP) Among Chinese Participants Recruiting NCT02993926 Leuprorelin
18 Long-term Outcome of GnRH Analogues Treatment of Children With Idiopathic Central Precocious Puberty Enrolling by invitation NCT02790112 Not Applicable

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 29 KISS1R

Anatomical Context for Central Precocious Puberty

MalaCards organs/tissues related to Central Precocious Puberty:

41
Testes, Breast, Bone, Pituitary, Brain, Ovary, Pineal

Publications for Central Precocious Puberty

Articles related to Central Precocious Puberty:

(show top 50) (show all 435)
# Title Authors Year
1
CENTRAL PRECOCIOUS PUBERTY CAUSED BY A HETEROZYGOUS DELETION IN THE MKRN3 PROMOTER REGION. ( 29763903 )
2018
2
Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring. ( 29858851 )
2018
3
Herbal medicine for idiopathic central precocious puberty: A protocol for a systematic review of controlled trials. ( 29595688 )
2018
4
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
5
Subnormal Growth Velocity And Related Factors During GnRH Analog Therapy For Idiopathic Central Precocious Puberty. ( 29687783 )
2018
6
Investigation of <i>MKRN3</i> mutation in patients with familial central precocious puberty. ( 29537379 )
2018
7
Evaluation of characteristics of the craniofacial complex and dental maturity in girls with central precocious puberty. ( 29708396 )
2018
8
The prevalence of brain abnormalities in boys with central precocious puberty may be overestimated. ( 29614125 )
2018
9
Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study. ( 29801469 )
2018
10
LHCGR Gene Analysis in Girls with Non-Classic Central Precocious Puberty. ( 29506309 )
2018
11
Review and evaluation of patient-centered psychosocial assessments for children with central precocious puberty or early puberty. ( 29649000 )
2018
12
Prevalence of cranial MRI findings in girls with central precocious puberty: a systematic review and meta-analysis. ( 29902155 )
2018
13
Etiological trends in male central precocious puberty. ( 29969878 )
2018
14
Predictors of bone maturation, growth rate and adult height in children with central precocious puberty treated with depot leuprolide acetate. ( 29750651 )
2018
15
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
16
Presentation of central precocious puberty in two patients with Tay-Sachs disease. ( 29943104 )
2018
17
Triptorelin depot for the treatment of children 2 years and older with central precocious puberty. ( 29957076 )
2018
18
Central precocious puberty in Boston boys: A 10-year single center experience. ( 29949619 )
2018
19
Triptorelin (Triptodur) for central precocious puberty. ( 29294465 )
2018
20
Association between bisphenol a exposure and idiopathic central precocious puberty (ICPP) among school-aged girls in Shanghai, China. ( 29650233 )
2018
21
Change in body mass index and insulin resistance after 1-year treatment with gonadotropin-releasing hormone agonists in girls with central precocious puberty. ( 28443256 )
2017
22
A Critical Appraisal of the Effect of Gonadotropin-Releasing Hormon Analog Treatment on Adult Height of Girls with Central Precocious Puberty. ( 29280737 )
2017
23
MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study. ( 28299573 )
2017
24
Long-term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma After GnRH Analog Treatment: Anthropometric, Metabolic and Reproductive Aspects. ( 28558376 )
2017
25
Central Precocious Puberty and Response to GnRHa Therapy in Children with Cerebral Palsy and Moderate to Severe Motor Impairment: Data from a Longitudinal, Case-Control, Multicentre, Italian Study. ( 28791047 )
2017
26
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. ( 28324015 )
2017
27
The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP). ( 28251550 )
2017
28
Treatment outcomes of gonadotropin-releasing hormone agonist in obese girls with central precocious puberty. ( 29301187 )
2017
29
Metabolic Outcomes, Bone Health, and Risk of Polycystic Ovary Syndrome in Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-Releasing Hormone Analogues. ( 28391271 )
2017
30
Corrigendum to: Increased high molecular weight adiponectin, but decreased total adiponectin and kisspeptin, in central precocious puberty compared with aged-matched prepubertal girls. ( 29145926 )
2017
31
Meta-Analysis of Paediatric Patients with Central Precocious Puberty Treated with Intramuscular Triptorelin 11.25 mg 3-Month Prolonged-Release Formulationa8c. ( 28334719 )
2017
32
Effects of pomegranate extract in supplementing gonadotropin-releasing hormone therapy on idiopathic central precocious puberty in Chinese girls: a randomized, placebo-controlled, double-blind clinical trial. ( 28091641 )
2017
33
A novel MKRN3 nonsense mutation causing familial central precocious puberty. ( 28132164 )
2017
34
Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty. ( 27914139 )
2017
35
Central Precocious Puberty Secondary to Adrenocortical Adenoma in a Female Child: Case Report and Review of the Literature. ( 28578183 )
2017
36
Increased high molecular weight adiponectin, but decreased total adiponectin and kisspeptin, in central precocious puberty compared with aged-matched prepubertal girls. ( 28610651 )
2017
37
Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty. ( 28672280 )
2017
38
Lung Function in Women with Idiopathic Central Precocious Puberty: A Pilot Studya8c. ( 28114141 )
2017
39
The influence of gonadotropin-releasing hormone agonists on anthropometric change in girls with central precocious puberty. ( 29302264 )
2017
40
There is no association between vitamin D status and characteristics of central precocious puberty in girls. ( 28963633 )
2017
41
GnRH agonist treatment for idiopathic central precocious puberty can improve final adult height in Chinese girls. ( 29312590 )
2017
42
The different effects of gonadotropin-releasing hormone agonist therapy on body mass index and growth between normal-weight and overweight girls with central precocious puberty. ( 28443259 )
2017
43
Commentary: Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious Puberty. ( 28167925 )
2017
44
Marked geographic patterns in the incidence of idiopathic central precocious puberty: a nationwide study in France. ( 28890442 )
2017
45
Prevalence of vitamin D deficiency in girls with idiopathic central precocious puberty. ( 28791667 )
2017
46
SERUM NESFATIN-1 LEVELS IN GIRLS WITH IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY. ( 28739555 )
2017
47
Insulin resistance and bone age advancement in girls with central precocious puberty. ( 29025204 )
2017
48
The first Japanese case of central precocious puberty with a novel MKRN3 mutation. ( 28546864 )
2017
49
Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study. ( 28599388 )
2017
50
Boy with central precocious puberty probably due to a peripheral cause. ( 27256994 )
2016

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 MAPK cascade GO:0043410 9.13 IGF1 IGFBP3 KISS1
3 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 IGF1 IGFBP3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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45 MESH via Orphanet
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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