Gonadarquia refere-se às primeiras alterações gonadais da puberdade. Em resposta às gonadotrofinas liberadas pela hipófise, os ovários nas fêmeas e os testículos nos machos começam a crescer e a aumentar a produção de esteroides sexuais, principalmente estradiol e testosterona. Ovários e testículos têm receptores — células foliculares e células de Leydig, respectivamente — onde as gonadotrofinas se ligam para estimular a maturação das gônadas e a secreção de estrógeno e testosterona. Certos distúrbios podem alterar o momento ou a natureza desses processos.Nos machos, a gonadarquia é responsável pelo aumento testicular e pela virilização. Nas fêmeas, a gonadarquia é responsável pela telarca e pela menarca.
Introdução
O que você precisa saber de cara
Puberdade precoce central genética em meninas, associada a mutações em genes como MKRN3, KISS1R e DLK1, resulta no desenvolvimento sexual prematuro devido à ativação antecipada do eixo hipotálamo-hipófise-gonadal.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
May have a role in neuroendocrine differentiation
MembraneCytoplasm
Receptor for kisspeptins (kisspeptin-10, kisspeptin-13, kisspeptin-14 and metastin/kisspeptin-54) (PubMed:11457843, PubMed:11527393, PubMed:15020672, PubMed:15596153). The hypothalamic KISS1/KISS1R signaling system plays a central role in the regulation of the hypothalamic-pituitary-gonadal reproductive axis by modulating the secretion of gonadotropin-releasing hormone (GnRH) from GnRH neurons (PubMed:12944565, PubMed:14573733, PubMed:15598687, PubMed:17164310, PubMed:18272894). In these neurons
Cell membrane
Hypogonadotropic hypogonadism 8 with or without anosmia
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH8 inheritance pattern is autosomal recessive.
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Acts as a key developmental timer that helps ensure puberty begins at the appropriate age, by inhibiting premature activation of the reproductive hormone cascade. Epigenetically regulates GNRH1 transcription by disrupting the binding of methyl-DNA binding protein 3/MBD3 to the promoter of GNRH1. Mechanistically, mediates the non-proteolytic ubiquitination of MBD3 at multiple sites with 'Lys27' u
Nucleus
Precocious puberty, central 2
A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis.
Variantes genéticas (ClinVar)
432 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Puberdade precoce central genética no indivíduo feminino
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Hypothalamic endoplasmic reticulum stress drives pubertal precocity due to early-onset obesity in female rodents.
Early-onset obesity, especially in girls, is frequently associated with advanced puberty; a phenomenon bound to increased risk of long-term complications. Hypothalamic endoplasmic reticulum (ER) stress has been implicated in the pathophysiology of obesity and its comorbidities. However, its contribution to pubertal disorders associated with obesity remains unexplored. We report herein that central ER stress drives obesity-induced precocious female puberty. Hypothalamic expression of key ER stress markers was blunted during normal pubertal transition and altered in female rats with early-onset obesity and advanced puberty, which displayed increased levels of p-PERK and p-eIF2α, and reduced ATF6α content. Central stimulation of hypothalamic ER stress with Thapsigargin in prepuberal lean female rats mimicked advanced puberty onset caused by obesity, without changes in body weight. This phenomenon seemingly involves a circuit including the hypothalamic arcuate nucleus (ARC), since obesity-induced precocious puberty was largely prevented by alleviation of ER stress via virogenetic overexpression of the ER chaperone, GRP78, in the ARC, but not in the paraventricular nucleus, in female rats. In addition, expression analyses of ER stress markers in mouse Kiss1 neurons isolated from juvenile and pubertal female mice revealed increased expression of Perk and Ire1α mRNAs in Kiss1ARC neurons in early-overfed mice at the juvenile stage, while Xbp1s/u expression ratio was significantly increased during juvenile-pubertal transition in overweighed mice. Collectively, our data uncover a relevant role of hypothalamic ER stress in the control of female puberty and the pathogenesis of obesity-induced pubertal alterations.
Differential microRNA Expression Profiles in Girls with Idiopathic Central Precocious Puberty and Premature Thelarche.
Idiopathic central precocious puberty (CPP) is increasingly observed in girls. Premature thelarche (PT) and exaggerated thelarche (ET) are early pubertal variants that can be challenging to distinguish from CPP in clinical practice. Exosomal microRNAs are stable biomarkers capable of crossing the blood-brain barrier. Although miR-30b-5p has been reported to increase in pubertal boys and girls, human studies investigating microRNAs in CPP and puberty remain limited. To investigate exosomal microRNA expression profiles and associated pathways in early pubertal development, we conducted a cross-sectional study of 28 girls aged 6-8 years. Serum exosomal microRNA expression was analyzed using next-generation sequencing. Differentially expressed microRNAs (DEmiRNAs) between groups were identified, followed by pathway enrichment analysis. Distinct exosomal miRNA expression patterns were observed among the CPP, ET, and control groups, with 307 DEmiRNAs identified. The CPP, PT, and ET groups exhibited distinct miRNA expression profiles compared with the control group. miR-30b-5p was upregulated in the CPP, ET, and PT groups compared with the control group. Pathway enrichment analysis revealed the involvement of various signaling pathways including AGE-RAGE, MAPK, and mTOR signaling pathways. Serum exosomal microRNAs may serve as biomarkers for early puberty and provide insight into metabolic influences on pubertal development.
Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.
This study aimed to determine the sexual maturation pattern of Shenxian pigs by combining observation, teaser boar testing, and back-pressure methods, and to apply this pattern for early breeding to shorten the generation interval and increase production efficiency. Subsequently, high-throughput transcriptome technology was used to compare gene expression levels in testicular tissues of Shenxian pigs before and after sexual maturity, as well as between sexually mature Shenxian pigs and Shenxian × Large White crossbred pigs. Functional analysis of differentially expressed genes (DEGs) was conducted to screen candidate genes related to sexual maturation and precocity in Shenxian pigs. The results showed that boars reached sexual maturity at an average age of 116 days in winter and 129 days in summer. For sows, the first estrus occurred at 114 days, the second at 134 days, and the third at 154 days in winter; corresponding ages in summer were 125, 144, and 164 days, respectively. The duration of estrus was around 3 days, and the estrus interval was approximately 20 days for both seasons. Comparative trials revealed no significant change in production performance when selection and first mating were conducted at 5 months of age compared to previous practices. Transcriptome sequencing of testicular tissues before and after sexual maturity in Shenxian pigs identified 6016 upregulated genes, primarily associated with reproduction and sperm function, influencing sexual maturation. The comparison between sexually mature Shenxian pigs and crossbred pigs identified 582 upregulated genes, mainly involved in hormone synthesis, affecting the onset of puberty in Shenxian pigs. After intersecting and functionally analyzing the upregulated genes from both sets, SRD5A1 and CYP11B2 were selected as the most likely candidate genes to affect precocious puberty in Shenxian pigs. Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present. PWS is a contiguous gene syndrome due to abnormal DNA methylation within the Prader-Willi critical region (PWCR) at 15q11.2-q13. The diagnosis and molecular cause can be identified in a proband by simultaneous DNA methylation analysis and oligo-SNP combination array (OSA). DNA methylation analysis identifies maternal-only imprinting within the PWCR. OSA can identify the molecular cause in those with a 15q11.2-q13 deletion, imprinting center deletion, and uniparental isodisomy and segmental isodisomy. In individuals with maternal-only imprinting identified on DNA methylation analysis and a normal OSA, DNA polymorphism analysis can be used to distinguish uniparental heterodisomy from an imprinting defect by epimutation. Targeted therapy: Diazoxide choline for hyperphagia. Supportive care: In infancy, special nipples or nasogastric tube feeding to assure adequate nutrition. In childhood, strict supervision of daily food intake based on height, weight, and body mass index (BMI) to provide energy requirements while limiting excessive weight gain (maintain BMI z score <2); encourage physical activity. Developmental services and educational support; hormonal and surgical treatments can be considered for cryptorchidism; growth hormone therapy to normalize height, increase lean body mass and mobility, and decrease fat mass; endocrine management of sex hormone replacement at puberty; treatment for those with precocious puberty, type 2 diabetes, and hypothyroidism; urgent evaluation for those with acute gastrointestinal manifestations; topiramate or N-acetylcysteine as needed for skin picking; standard treatment for neurobehavioral and ophthalmologic manifestations, sleep issues, scoliosis, hip dysplasia, and seizures; modafinil may be helpful for daytime sleepiness; calcium and vitamin D supplementation to avoid osteoporosis; sex steroid therapy, growth hormone, or bisphosphonates for low bone density; products for dry mouth and frequent dental hygiene; social work support and care coordination. In adulthood, a residential facility for individuals with PWS that helps regulate behavior and weight management may prevent morbid obesity, and growth hormone may help to maintain muscle mass. Surveillance: Monitor development, growth, skin, sleep issues, and family needs at each visit. Assess testicular position annually in males; assess glycosylated hemoglobin and/or glucose tolerance test in adolescents and those with obesity or rapid weight gain; and assess free thyroxine and TSH every six to 12 months. Assess for central adrenal insufficiency as needed; monitor height, weight, and BMI monthly in infancy, every six months until age ten years, and then annually. Assess for behavioral issues annually after age two years, and for psychosis annually in adolescent and adults. Assess for vision issues and sleep issues annually; sleep study prior to starting growth hormone therapy and four to eight weeks after starting growth hormone therapy. Clinical examination for scoliosis at each visit when child can sit independently; spine radiographs annually in those with clinical findings of scoliosis or obesity; DXA scan every two years beginning in adolescence. Assess for new seizures or monitor those with seizures at each visit. Dental evaluations every six months or more frequently in those with dental issues. Agents/circumstances to avoid: Unsupervised access to food; emetics; antidiarrheal medications; sedatives and other medications. Individuals with PWS typically represent simplex cases (i.e., a single affected family member) and have the disorder as the result of a de novo genetic alteration. The vast majority of families have a recurrence risk of less than 1%. However, certain etiologies involve a recurrence risk as high as 50%, and a scenario with a risk of almost 100%, though very unlikely, is theoretically possible. Reliable PWS recurrence risk assessment therefore requires identification of the genetic mechanism of PWS in the proband (i.e., a 15q deletion, UPD 15, or an imprinting defect) and parental testing to discern the presence of a predisposing genetic alternation (e.g., a parental chromosome rearrangement or paternal heterozygosity for an imprinting center deletion). Once the causative genetic mechanism has been identified in the proband, prenatal testing for PWS is possible.
Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
MKRN3 gene loss-of-function mutations cause central precocious puberty (CPP), whereas its deletion in Prader-Willi syndrome (PWS) paradoxically leads to hypogonadism. The mechanistic basis for these opposing reproductive phenotypes remains largely unclear. We performed whole-exome sequencing in 98 Chinese CPP patients along with a systematic review of previously reported MKRN3 pathogenic and likely pathogenic variants to summarize genotype-phenotype correlations. Subsequently, genome-wide DNA methylation profiling was performed in CPP patients with the MKRN3 pathogenic variant, and the results were compared with those of patients with PWS, idiopathic CPP, and healthy controls. A pathogenic frameshift MKRN3 variant [c.476dupC (p.Ala159fs*15)], representing the first frameshift mutation reported within the inter-C3H1 hotspot region in an Asian cohort, was identified. Patients with severe MKRN3 variants exhibited significantly earlier pubertal onset (5.80 vs. 7.50 years, P = 0.029) and higher GnRH-stimulated peak LH levels (34.55 vs. 11.00 IU/L, P = 0.047) than those with missense mutations. Methylation analysis revealed no differences in MKRN3 but identified 18,609 differentially methylated positions between MKRN3-CPP and PWS. Key findings included hypermethylation of IGSF10 (Δβ = 0.37), ZC3H18 (Δβ = 0.27), SH3RF3 (Δβ = 0.36), and PTH1R (Δβ = 0.28), alongside hypomethylation of MAGEL2 (Δβ = - 0.19), and PTPA (Δβ = - 0.23), where Δβ represents the difference in DNA methylation β values between groups. We identified a first frameshift pathogenic variant localized to the inter-C3H1 region in Asia, further confirming its functional significance. Our study suggests an epigenetic framework that could potentially explain how divergent pubertal phenotypes in MKRN3 deficiency might arise from dysregulated epigenetic programming of downstream neuroendocrine pathways.
A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
Pituitary duplication is a rare congenital malformation, with fewer than 80 cases reported in the literature. It is often associated with midline malformations but can also occur in isolation. Central precocious puberty (CPP) is the most common endocrinological manifestation, but to date this has only ever been reported in female patients. A 9-year-old boy presented with precocious puberty. His medical history was notable for ventricular septal defect. Physical examination showed Tanner stage P3 G2, a growth rate of 10 cm/year, and bone age of 12.5 years. A GnRH test confirmed CPP. Pituitary function was otherwise normal. MRI revealed ectopic pituitary duplication with two separate stalks, two ectopic posterior pituitary, tuberomammillary fusion, and vascular anomalies involving the basilar artery and vertebral vessels. The patient was treated with GnRH agonist therapy, which normalized growth and slowed bone maturation. Whole exome sequencing did not identify any pathogenic variants. This is the first reported case of CPP in a male with pituitary duplication. The findings highlight the need for awareness of endocrine dysfunction, including CPP, in patients with pituitary malformations. The gender disparity of CPP in pituitary duplication remains unexplained, and further research into genetic and molecular mechanisms, notably Sonic Hedgehog signaling, is required to understand this association.
Publicações recentes
Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).
Hypothalamic endoplasmic reticulum stress drives pubertal precocity due to early-onset obesity in female rodents.
Differential microRNA Expression Profiles in Girls with Idiopathic Central Precocious Puberty and Premature Thelarche.
Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.
Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
📚 EuropePMCmostrando 200
A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
Hormone research in paediatricsSex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).
Frontiers in endocrinologyBone age advancement in non-obese children with premature adrenarche: relationship to growth acceleration and predicted adult height outcomes.
Journal of pediatric endocrinology & metabolism : JPEMHypothalamic endoplasmic reticulum stress drives pubertal precocity due to early-onset obesity in female rodents.
Proceedings of the National Academy of Sciences of the United States of AmericaDifferential microRNA Expression Profiles in Girls with Idiopathic Central Precocious Puberty and Premature Thelarche.
International journal of molecular sciencesPreliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.
International journal of molecular sciencesThree cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.
AME case reportsDivergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
World journal of pediatrics : WJPImpact of BMI on basal LH in premenarcheal girls with idiopathic central precocious puberty.
Frontiers in endocrinologyCase Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.
Journal of clinical research in pediatric endocrinologyThe incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases.
Journal of pediatric endocrinology & metabolism : JPEM[Association between insulin resistance and idiopathic central precocious puberty in girls and the diagnostic value of insulin resistance].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsEarly Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights from a Korean Series.
Journal of movement disordersAnalysis of bibliometric and cross-cycle NHANES data: The effects of physical activity and vitamin D on pubertal onset in children aged 6-14 and the differences before and after the pandemic.
MedicinePreventive Effects of Eclipta prostrata and Hordeum vulgare Extract Complex on Precocious Puberty in Danazol- and High-Fat Diet-Induced Rat Models.
International journal of molecular sciencesStayability in the Era of Early-Challenged Females: Genetic Parameters and Correlations With Economically Relevant Traits.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und ZuchtungsbiologieAdvances in monogenic female infertility.
Journal of genetics and genomics = Yi chuan xue baoPhenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.
Hormone research in paediatricsGenetic Parameters for Novel Feedlot Profitability-Related Traits in Nelore Cattle.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und ZuchtungsbiologieHypothalamic FTO upregulates BDNF to promote GnRH expression through the PI3K/Akt pathway, leading to precocious puberty.
Frontiers in endocrinologyDeciphering the Impact of AKT1 Pathogenic Variants in Juvenile Granulosa Cell Tumors Using a Drosophila Model.
Molecular & cellular proteomics : MCPPubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience.
Journal of pediatric endocrinology & metabolism : JPEMThe Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs).
CureusMECP2 Rare Variants in Boys With Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismCausal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study.
Journal of pediatric endocrinology & metabolism : JPEMThe correlation between the vitamin D/insulin ratio and central precocious puberty in girls and its screening potential.
Anales de pediatriaAbnormal Puberty and Amenorrhea: A Review.
Pediatric annalsMuricholic acid mediates puberty initiation via the hypothalamic TGR5 signaling pathway.
Proceedings of the National Academy of Sciences of the United States of AmericaMcCune-Albright syndrome with multiple hyperfunctional endocrinopathies: diagnosis, treatment, and long-term follow-up: a case report.
Frontiers in endocrinologyGenetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.
Cardiovascular endocrinology & metabolismThe efficacy and safety of pharmacotherapy for girls with central precocious puberty or early normal puberty: a retrospective cohort study.
Scientific reportsTherapeutic outcomes of GnRHa and rhGH in idiopathic central precocious puberty: a focus on psychological and behavioral improvements.
BMC pediatricsPhenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.
Endocrine regulationsEarly Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.
Journal of investigative medicine high impact case reportsHormone-active ovarian steroid cell tumor in a 2-year-old girl.
Journal of pediatric endocrinology & metabolism : JPEMAssessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.
American journal of medical genetics. Part ANew patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.
Journal of medical geneticsVan Maldergem syndrome-1 in a patient with central precocious puberty: A case report.
MedicineGut microbiota alterations modulate high-fat diet-induced precocious puberty.
Microbiology spectrumSweeteners and puberty: investigating genetic and dietary influences on central precocious puberty.
Journal of endocrinological investigationEvaluation of Short and Tall Stature in Children.
American family physicianOverexpression of Rap1B alleviate central precocious puberty and neurodevelopmental damage.
Cellular signallingFrom Severe Virilization to Precocious Puberty in a 46,XX Patient: Therapeutic Challenges in a Case of 11β-Hydroxylase Deficiency.
CureusDibutyl phthalate promotes central precocious puberty through primordial follicle activation by downregulating BMP15.
Ecotoxicology and environmental safetyTranscriptome profile of early matured Macrobrachium rosenbergii (Giant Freshwater Prawn) from Taiwan.
Scientific dataComparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study.
Journal of pediatric endocrinology & metabolism : JPEMImpact of the COVID-19 pandemic on the incidence of central precocious puberty: A PRISMA-ScR-COMPLIANT scoping review.
Archives of endocrinology and metabolismPuberty, but not precocious puberty is influenced by weight gain in the first years of life.
EndocrinePeripheral precocious puberty in girls with McCune-Albright syndrome: a case series.
Archives of endocrinology and metabolismClinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Annals of pediatric endocrinology & metabolismCombination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.
BMC pediatricsGlycodeoxycholic acid alleviates central precocious puberty by modulating gut microbiota and metabolites in high-fat diet-fed female rats.
Cellular and molecular life sciences : CMLSMaternal dopamine agonist treatment before pregnancy reverses infertility and hyperprolactinemia in hCG-overexpressing mice through lactation: Evidence of generational effects.
Molecular and cellular endocrinologyProduction of 11-ketotestosterone in childhood adrenal tumors with virilization or peripheral precocious puberty: Dominant expression of 11β-hydroxysteroid dehydrogenase type 2.
The Journal of steroid biochemistry and molecular biologyCentral lipid sensing pathways contribute to the control of puberty and its alterations in conditions of obesity.
American journal of physiology. Endocrinology and metabolismA de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
Brain & developmentBioinformatics analysis explores key pathways and hub genes in central precocious puberty.
Journal of pediatric endocrinology & metabolism : JPEMClinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center.
Frontiers in endocrinologyShared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.
The Journal of neuroscience : the official journal of the Society for NeuroscienceCentral precocious puberty associated with duplicated pituitary: a case report and literature review.
Frontiers in endocrinologyPharmacologic Management of Obesity in Neuro-Oncology: A Case Report.
Case reports in oncologyExposure to polyethylene and polyvinylchloride microplastics caused advanced puberty onset in females through promoting hypothalamic GnRH expression.
Ecotoxicology and environmental safetyBroadening the Healthy Aging Paradigm: Inclusion of Gestation, Development, and Reproductive Health.
Advanced biologyBurosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.
American journal of medical genetics. Part ANationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC medical genomicsA novel model of central precocious puberty disease: Paternal MKRN3 gene-modified rabbit.
Animal models and experimental medicineDevelopment of a disease diagnostic model to predict the occurrence of central precocious puberty of female.
Journal of pediatric endocrinology & metabolism : JPEMChildhood obesity and central precocious puberty.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesNovel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report.
Frontiers in endocrinologyPrecocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ case reportsA novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.
BMC pediatrics[Construction of a diagnostic model and scoring system for central precocious puberty in girls, with external validation].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsAdult height in girls with idiopathic central precocious puberty treated with triptorelin.
Frontiers in endocrinologyTemple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.
The Journal of clinical endocrinology and metabolismConcomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Clinical geneticsExpanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Clinical genetics[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsLong term effects of aromatase inhibitor treatment in patients with aromatase excess syndrome.
Frontiers in endocrinologyEndocrine disorders in Rett syndrome: a systematic review of the literature.
Frontiers in endocrinologyDevelopment of Serum Cell-Free miRNA Panel for Identification of Central Precocious Puberty and Premature Thelarche in Girls.
Biochemistry. BiokhimiiaVariations in Sex Characteristics.
Obstetrics and gynecology clinics of North AmericaClinical and Genetic Mechanisms in Patients with <italic>MC2R</italic> Deficiency Presenting with Early Puberty.
Hormone research in paediatricsThe Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.
Hormone research in paediatricsA Phase 3, Open-Label, Single-Arm Trial of the Efficacy and Safety of Triptorelin 6-Month Formulation in Chinese Children with Central Precocious Puberty.
Advances in therapyComprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients.
The Journal of clinical endocrinology and metabolismThe rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population.
Human molecular geneticsAlterations in the gut microbiota community are associated with childhood obesity and precocious puberty.
BMC microbiologyClinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.
Cytogenetic and genome researchA Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report.
Journal of pediatric and adolescent gynecology[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExposure to synthetic steroid hormones and precocious puberty in girls: A case-control study.
Ecotoxicology and environmental safety[A case of Van Wyk-Grumbach syndrome with inherited RET gene variation].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsGenetic and non-genetic factors in prediction of early pubertal development in Chinese girls.
Frontiers in endocrinologyPuberty in girls with Prader-Willi syndrome: cohort evaluation and clinical recommendations in a Latin American tertiary center.
Frontiers in endocrinologyUnderstanding the genetic complexity of puberty timing across the allele frequency spectrum.
Nature genetics[Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
Annals of agricultural and environmental medicine : AAEMMethylome analysis in girls with idiopathic central precocious puberty.
Clinical epigeneticsThe genetic etiology is a relevant cause of central precocious puberty.
European journal of endocrinologyA Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.
Molecular syndromologyShort Adult Height After Rapid-tempo Puberty: When is it too Late to Treat?
Journal of clinical research in pediatric endocrinologyImprinting disorders in children conceived with assisted reproductive technology in Sweden.
Fertility and sterilityCase report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.
Frontiers in endocrinologyPresentation and Care for Children with Peripheral Precocious Puberty.
Endocrinology and metabolism clinics of North AmericaDiagnosis of Central Precocious Puberty.
Endocrinology and metabolism clinics of North AmericaAssociation of obesity and menarche SNPs and interaction with environmental factors on precocious puberty.
Pediatric researchDiagnostic Conundrum of a Sertoli Cell Tumor in a 2-Year-Old Girl with Peripheral Precocious Puberty and a Café-au-Lait Macule: A Case Report.
Hormone research in paediatricsDual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Orphanet journal of rare diseasesHeterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.
European journal of endocrinologyNon-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
EndocrineAspartame Intake Delayed Puberty Onset in Female Offspring Rats and Girls.
Molecular nutrition & food researchNovel variants ensued genomic imprinting in familial central precocious puberty.
Journal of endocrinological investigationPolymorphism rs5780218, rs12998 and rs10158616 in KISS1 gene among the Hubei province Chinese girls with the central precocious puberty.
EndocrineGenetic correlation estimates between calving ease in primiparous cows and economically important traits in Nellore cattle.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und ZuchtungsbiologieFloating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.
Journal of clinical research in pediatric endocrinology[Adrenal cortical carcinoma in children: a clinicopathological analysis of 25 cases].
Zhonghua bing li xue za zhi = Chinese journal of pathology[McCune-Albright syndrome: a case report and literature review].
The Pan African medical journalFTO-mediated m6A demethylation regulates GnRH expression in the hypothalamus via the PLCβ3/Ca2+/CAMK signalling pathway.
Communications biologyPostnatal feeding with high-fat combined with high-glucose diet induces precocious puberty in Sprague‒Dawley rat pups.
Biochemical and biophysical research communicationsMKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
Journal of endocrinological investigationEffects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.
Journal of pediatric endocrinology & metabolism : JPEMCase Report: Adrenocortical carcinoma in children-symptoms, diagnosis, and treatment.
Frontiers in endocrinologyThe functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty.
American journal of medical genetics. Part AEndocrine features of primary mitochondrial diseases.
Current opinion in endocrinology, diabetes, and obesityTherapeutic effects of melatonin in female mice with central precocious puberty by regulating the hypothalamic Kiss-1/Kiss1R system.
Behavioural brain researchRelevance of augmented kisspeptin signaling through H364 KISS1R in central precocious puberty.
GeneCentral precocious puberty: a review of diagnosis, treatment, and outcomes.
The Lancet. Child & adolescent healthSTRA8-RB interaction is required for timely entry of meiosis in mouse female germ cells.
Nature communicationsFamilial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
European journal of endocrinologyMouse Testicular Mkrn3 Expression Is Primarily Interstitial, Increases Peripubertally, and Is Responsive to LH/hCG.
EndocrinologyEfficacy and Safety of Triptorelin 3-Month Formulation in Chinese Children with Central Precocious Puberty: A Phase 3, Open-Label, Single-Arm Study.
Advances in therapyCOVID-19 lockdown and the rate of central precocious puberty.
Journal of endocrinological investigation[Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].
Problemy endokrinologiiRare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
The lancet. Diabetes & endocrinology[Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome].
Revista medica de ChileBrain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Frontiers in endocrinologyAssociations of Obesity With Growth and Puberty in Children: A Cross-Sectional Study in Fuzhou, China.
International journal of public healthMcCune-Albright Syndrome: A Case Report and Review of Literature.
International journal of molecular sciencesDifferential Expression of RNAseq Imprinted Genes from Bovine Females Before and After Puberty.
Biochemical geneticsMKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.
JCI insightThe Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.
Children (Basel, Switzerland)Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
The Journal of clinical endocrinology and metabolismApproach to the Patient: Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismAnalysis of the incidence of central precocious puberty treated with gonadotropin-releasing hormone analogs. Impact of the COVID-19 pandemic.
Archivos argentinos de pediatriaPersistently expressed human chorionic gonadotropin induces premature luteinization and progressive alterations on the reproductive axis in female mice.
General and comparative endocrinologyAssociation of the KISS1, LIN28B, VDR and ERα gene polymorphisms with early and fast puberty in Chinese girls.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyHypertension as a Novel Link for Shared Heritability in Age at Menarche and Cardiometabolic Traits.
The Journal of clinical endocrinology and metabolismComparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.
Journal of clinical research in pediatric endocrinologyLong-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.
Journal of clinical research in pediatric endocrinologyMethylation status of hypothalamic Mkrn3 promoter across puberty.
Frontiers in endocrinologyA Clinical Study of Girls With Idiopathic Central Precocious Puberty and Psychological Behavior Problems.
Clinical pediatricsMolecular basis of normal and pathological puberty: from basic mechanisms to clinical implications.
The lancet. Diabetes & endocrinologyA new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Journal of endocrinological investigationGut microbiota and its derived SCFAs regulate the HPGA to reverse obesity-induced precocious puberty in female rats.
Frontiers in endocrinologyCirculating levels of DLK1 and glucose homeostasis in girls with obesity: A pilot study.
Frontiers in endocrinologyA novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
American journal of medical genetics. Part AAutosomal dominant inheritance with sex-limited manifestation: An unusual mode of transmission in humans and animals.
American journal of medical genetics. Part AA review of the genetics and epigenetics of central precocious puberty.
Frontiers in endocrinologyThe critical BMI hypothesis for puberty initiation and the gender prevalence difference: Evidence from an epidemiological survey in Beijing, China.
Frontiers in endocrinologyPrecocious puberty and microbiota: The role of the sex hormone-gut microbiome axis.
Frontiers in endocrinologyAssociations between body mass index and pubertal development based on the outcomes of girls with early breast development.
Frontiers in endocrinologyPrecocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
American journal of medical genetics. Part APubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
Frontiers in endocrinologyGene Polymorphisms Associated with Central Precocious Puberty and Hormone Levels in Chinese Girls.
International journal of endocrinologyA case report of interventricular hemorrhage in William-Beuren syndrome.
Annals of medicine and surgery (2012)Idiopathic central precocious puberty with Prader-Willi syndrome: pubertal development with discontinuation of gonadotropin-releasing hormone analog.
Endocrinology, diabetes & metabolism case reportsHypothalamic Overexpression of Makorin Ring Finger Protein 3 Results in Delayed Puberty in Female Mice.
EndocrinologyIntegrated analysis of proteomics and metabolomics in girls with central precocious puberty.
Frontiers in endocrinologyClinical, Endocrine and Neuroimaging Findings in Girls With Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismFace-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
The Journal of clinical endocrinology and metabolismThe Role of Kisspeptin in the Control of the Hypothalamic-Pituitary-Gonadal Axis and Reproduction.
Frontiers in endocrinologyPrecocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases.
BMC pediatricsDe novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
American journal of medical genetics. Part A[What is the best method for estimating final height in patients with precocious puberty?].
Andes pediatrica : revista Chilena de pediatriaGreen tea catechin EGCG could prevent obesity-related precocious puberty through NKB/NK3R signaling pathway.
The Journal of nutritional biochemistryTrends Toward Earlier Puberty Timing in Girls and Its Likely Mechanisms.
Journal of pediatric and adolescent gynecologyExposure to antibiotics and precocious puberty in children: A school-based cross-sectional study in China.
Environmental researchA Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
GenesBisphenol A exposure advances puberty onset by changing Kiss1 expression firstly in arcuate nucleus at juvenile period in female rats.
Reproductive toxicology (Elmsford, N.Y.)Difference of Precocious Puberty Between Before and During the COVID-19 Pandemic: A Cross-Sectional Study Among Shanghai School-Aged Girls.
Frontiers in endocrinology[Relationship between body mass index and sexual development in Chinese children].
Zhonghua er ke za zhi = Chinese journal of pediatricsAdrenocortical carcinoma: Pediatric aspects (Review).
Experimental and therapeutic medicineA proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair.
The Journal of steroid biochemistry and molecular biologyInvestigation of Copy Number Variations (CNVs) of the Goat PPP3CA Gene and Their Effect on Litter Size and Semen Quality.
Animals : an open access journal from MDPIGrowth and Pubertal Features in a Cohort of 83 Patients with Osteogenesis Imperfecta.
Klinische PadiatrieModerate congenital adrenal hyperplasia in two girls diagnosed by newborn screening.
Pediatric endocrinology, diabetes, and metabolismFirst female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Annals of pediatric endocrinology & metabolismInvestigation of early puberty prevalence and time of addition thelarche to pubarche in girls with premature pubarche: two-year follow-up results.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyShould Skeletal Maturation Be Manipulated for Extra Height Gain?
Frontiers in endocrinologyAn open label, multicenter clinical trial that investigated the efficacy and safety of leuprorelin treatment of central precocious puberty in Chinese children.
MedicineImpact of intra-uterine life on future health.
Annales d'endocrinologieExtent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Calcified tissue internationalThe m6A mRNA demethylase FTO regulates GnRH secretion in Mn-induced precocious puberty.
Molecular and cellular endocrinologyMcCune-Albright syndrome - A case report with transmission electron microscopy.
Anais brasileiros de dermatologiaA case report of precocious puberty related to Rett syndrome and a literature review.
Die PharmazieObesity-related genetic polymorphisms are associated with the risk of early puberty in Han Chinese girls.
Clinical endocrinologyThe first central precocious puberty proteomic profiles revealed multiple metabolic networks and novel key disease-associated proteins.
AgingCase Report: Lipoma of the Tuber Cinereum Mimicking a Pituitary Gland Abnormality in a Girl With Central Precocious Puberty.
Frontiers in endocrinologyPeutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).
Experimental and therapeutic medicineAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Hypothalamic endoplasmic reticulum stress drives pubertal precocity due to early-onset obesity in female rodents.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41818156mais citado
- Differential microRNA Expression Profiles in Girls with Idiopathic Central Precocious Puberty and Premature Thelarche.
- Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.
- Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
- A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
- Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:650077(Orphanet)
- MONDO:0958354(MONDO)
- Puberdade Precoce Central(PCDT · Ministério da Saúde)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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