Os xenoestrogênios são um tipo de substância química exógena, que pode ser natural ou sintética, que imita o estrogênio. Eles podem ser compostos químicos sintéticos ou naturais. Os xenoestrogênios sintéticos incluem alguns compostos industriais amplamente usados, como o Bisfenol A, que têm efeitos estrogênicos em um organismo vivo, embora difiram quimicamente das substâncias estrogênicas produzidas internamente pelo sistema endócrino de qualquer organismo. Os xenoestrogênios naturais incluem os fitoestrogênios, que são xenoestrogênios derivados de plantas. Como a principal via de exposição a esses compostos é pelo consumo de plantas fitoestrogênicas, às vezes eles são chamados de "estrogênios dietéticos".
Introdução
O que você precisa saber de cara
Puberdade precoce central genética em meninos, associada a mutações em genes como DLK1, MKRN3, KISS1 e KISS1R. Caracteriza-se pelo início antecipado do desenvolvimento sexual masculino devido à ativação prematura do eixo hipotálamo-hipófise-gonadal.
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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
4 genes identificados com associação a esta condição.
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.
Kisspeptins are ligands for the G-protein coupled receptor KISS1R/GPR54 (PubMed:11385580, PubMed:11457843, PubMed:11527393, PubMed:12879005, 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:15219839, PubMed:15598687, PubMed:22335740). In these neurons, kisspeptin binding to it
Secreted
Hypogonadotropic hypogonadism 13 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).
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.
May have a role in neuroendocrine differentiation
MembraneCytoplasm
Variantes genéticas (ClinVar)
390 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 masculino
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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
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.
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.
Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).
The gonadal soma-derived factor (Gsdf) is a member of the Transforming Growth Factor-β (TGF-β) superfamily, with key roles in teleost reproduction, particularly in males. Previously considered teleost-specific, its presence in non-teleostvertebrates indicates a more ancient evolutionary origin. It is still classified as an orphan ligand with uncharacterized signaling pathways, and its evolution, regulatory mechanisms, and functional divergence remain unclear. The roesent work provides a comprehensive characterization of two gsdf paralogues in European sea bass (Dicentrarchus labrax), integrating phylogenetic, synteny, transcriptional regulation, and protein localization analyses, together with stage-specific gene expression profiling during ontogeny, puberty onset and adult reproductive cycle. Phylogenetic reconstruction of 31 species revealed that gsdf duplications are independent, lineage-specific events unrelated to the teleost-specific whole genome duplication (3R). Synteny analyses showed that gsdf1 retains strong conservation with ancestral loci, whereas gsdf2 resides in a distinct but conserved genomic context, suggesting complex rearrangement. Comparative promoter analysis identified conserved transcription factor binding sites, supporting a shared regulatory framework across teleosts. Expression profiling revealed that both paralogues are gonad-enriched, expressed from early gonadal differentiation, and downregulated at the onset of precocious male puberty. In adults, gsdf1 was predominantly expressed in males, especially during pre-meiotic stages, while gsdf2 was more abundant in females, particularly in follicular cells during pre-vitellogenesis. Immunolocalization confirmed stage- and sex-specific presence in Sertoli and follicular cells, indicating local action. These results support the subfunctionalization of gsdf paralogues in sea bass, with sexspecific partitioning of reproductive roles, and provide new insight into the evolutionary plasticity of gonad-related genes in teleosts.
Three cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.
Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy of the adrenal glands, characterized by a high potential for local invasion and metastasis. In pediatric patients, it often presents as a localized tumor with either benign or intermediate malignant potential. While ACC is considered rare in children, early diagnosis and intervention are critical for improving outcomes. This case report presents three children diagnosed with intermediate-potential malignant ACC, diagnosed at an early stage, and successfully treated with complete surgical resection. The first case involves a 2-month-old female neonate presenting with signs of Cushingoid syndrome and a 5.5 cm left-sided stage II ACC. The second case describes a 3-year-old male who exhibited peripheral signs of precocious puberty with a 7 cm androgen-secreting right-sided stage II ACC. The third case involves a 2.5-year-old boy who presented with a hypertensive crisis-related seizure, adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome, and peripheral precocious puberty due to a 3.5 cm right adrenal stage I ACC. All three patients underwent successful complete resection of their respective tumors, with no signs of locoregional invasion or distant metastasis. Postoperatively, there was a complete resolution of the endocrine manifestations, such as Cushingoid features and precocious puberty. All three children underwent successful complete tumor resection, resolution of the endocrine findings and no recurrences after up to 4 years of follow-up. This case report highlights the diverse clinical presentations of pediatric ACC, showcasing the various hormonal profiles and symptoms associated with the disease. It emphasizes the critical importance of early detection and complete surgical resection in improving patient outcomes. Although pediatric ACC is a rare and aggressive disease, these cases demonstrate that with appropriate intervention, favorable outcomes can be achieved, even in cases with intermediate malignant potential.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 199
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 endocrinologyPreliminary 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 : WJPCase 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 : JPEMAnalysis 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.
MedicineHigh-fat diet-induced obesity accelerates puberty in male rats through SMIM20/phoenixin upregulation.
Frontiers in endocrinologyStayability 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 ZuchtungsbiologiePhenotypic 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 ZuchtungsbiologiePubertal 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.
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American journal of medical genetics. Part ANew patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.
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Archives of endocrinology and metabolismCombination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.
BMC pediatricsPrecocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH.
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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.
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Frontiers in endocrinologyThe clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.
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BMC medical genomicsA novel model of central precocious puberty disease: Paternal MKRN3 gene-modified rabbit.
Animal models and experimental medicinePseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome.
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The Journal of clinical endocrinology and metabolismExpanding 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].
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Frontiers in endocrinologyVariations 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 paediatricsA rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.
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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.
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Cytogenetic and genome researchCentral precocious puberty should be taken seriously in children with Leydig cell tumors of the testis after surgical treatment: a tertiary center experience.
Asian journal of andrology[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 geneticsConservative management of gynecomastia in Peutz-Jeghers syndrome: Case series and review of the literature.
Pediatric blood & cancer[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsUnderstanding 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 geneticsThe genetic etiology is a relevant cause of central precocious puberty.
European journal of endocrinologyShort 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 sterilityBiallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
American journal of medical genetics. Part AEarly life interventions metformin and trodusquemine metabolically reprogram the developing mouse liver through transcriptomic alterations.
Aging cellPresentation 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 AmericaDual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Orphanet journal of rare diseasesFamilial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.
Annals of pediatric endocrinology & metabolismNovel variants ensued genomic imprinting in familial central precocious puberty.
Journal of endocrinological investigationGenetic 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 ZuchtungsbiologieCentral Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.
The Journal of clinical endocrinology and metabolismLoss of Fshr Prevents Testicular Maturation in Atlantic Salmon (Salmo salar L.).
Endocrinology[Adrenal cortical carcinoma in children: a clinicopathological analysis of 25 cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyEffects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.
Journal of pediatric endocrinology & metabolism : JPEMGonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene.
JPMA. The Journal of the Pakistan Medical AssociationPrecocious Puberty: Types, Pathogenesis and Updated Management.
CureusCentral 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 communications[The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaA patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report.
EndocrineFamilial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
European journal of endocrinologyA Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.
GenesMouse 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 therapy[Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].
Problemy endokrinologiiCase Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
Frontiers in endocrinologyMonozygotic twins with identical premature timing of acne onset: A Case report.
The Australasian journal of dermatologyRare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
The lancet. Diabetes & endocrinologyAssociations of Obesity With Growth and Puberty in Children: A Cross-Sectional Study in Fuzhou, China.
International journal of public healthPeripheral precocious puberty in Li-Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.
Journal of medical case reportsWhen it doesn't run in the blood(vessels) - events involved in vascular disorders.
Biomedical journalNovel 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 metabolismMolecular basis of normal and pathological puberty: from basic mechanisms to clinical implications.
The lancet. Diabetes & endocrinologyClinical and Genetic Characterization of Familial Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismA new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Journal of endocrinological investigationAutosomal 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 endocrinologyChinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.
Molecular genetics & genomic medicineBurosumab Therapy in a Paediatric Patient with McCune-Albright Syndrome: A Case Report.
Hormone research in paediatricsAdult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Journal of the Formosan Medical Association = Taiwan yi zhiPrecocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
Journal of the Endocrine SocietyPubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
Frontiers in endocrinologyFamilial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
The Journal of clinical endocrinology and metabolismA Case of Peripheral Precocious Puberty May Be Caused by a Diet Containing Phytosterols in a 20-Month-Old Boy.
Hormone research in paediatricsIdiopathic 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.
EndocrinologyLong-Term Treatment With Letrozole in a Boy With Familial Male-Limited Precocious Puberty.
Frontiers in endocrinologyThe Role of Kisspeptin in the Control of the Hypothalamic-Pituitary-Gonadal Axis and Reproduction.
Frontiers in endocrinologyExposure to antibiotics and precocious puberty in children: A school-based cross-sectional study in China.
Environmental researchIncreased testicular insulin-like growth factor 1 is associated with gonadal activation by recombinant growth hormone in immature rats.
Reproductive biology and endocrinology : RB&EPleomorphism of the HPG axis with NR0B1 gene mutation - a case report of longitudinal follow-up of a proband with central precocious puberty.
Journal of pediatric endocrinology & metabolism : JPEM[Relationship between body mass index and sexual development in Chinese children].
Zhonghua er ke za zhi = Chinese journal of pediatricsPituitary Gonadotropin Gene Expression During Induced Onset of Postsmolt Maturation in Male Atlantic Salmon: In Vivo and Tissue Culture Studies.
Frontiers in endocrinologyTranscriptome analysis of Macrobrachium rosenbergii: Identification of precocious puberty and slow-growing information.
Journal of invertebrate pathologyA 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 biologyGrowth and Pubertal Features in a Cohort of 83 Patients with Osteogenesis Imperfecta.
Klinische PadiatrieFirst female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Annals of pediatric endocrinology & metabolismShould 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 internationalMeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα.
Cell death & diseasePeutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).
Experimental and therapeutic medicineGenetic and Epigenetic Control of Puberty.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationPathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Frontiers in endocrinologyEndocrine-disrupting chemicals and their effects on puberty.
Best practice & research. Clinical endocrinology & metabolismCentral Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation.
Journal of clinical research in pediatric endocrinology[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].
Problemy endokrinologii[Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIs there an association between prostate-specific antigen and androgen levels in 46, XX patients with congenital adrenal hyperplasia?
Journal of pediatric urologySelf-consciousness and depression in precocious pubertal children.
The Journal of international medical researchPrecocious sexual maturation: Unravelling the mechanisms of pubertal onset through clinical observations.
Journal of neuroendocrinologyA novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.
European journal of medical geneticsUPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
European journal of medical geneticsDiagnosis and management of precocious sexual maturation: an updated review.
European journal of pediatricsPOU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
PituitaryCongenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
The Pan African medical journalChallenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
Journal of endocrinological investigationHigh Prevalence of Weight Gain in Childhood Brain Tumor Survivors and Its Association With Hypothalamic-Pituitary Dysfunction.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyPrevalence of precocious puberty among Chinese children: a school population-based study.
EndocrineGenotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
The Journal of clinical endocrinology and metabolismInsights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Human reproduction (Oxford, England)Familial central precocious puberty: two novel MKRN3 mutations.
Pediatric researchGrowing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty.
Journal of developmental and behavioral pediatrics : JDBPGenotype and clinical outcomes in children with congenital adrenal hyperplasia.
Pediatrics international : official journal of the Japan Pediatric SocietyTremor is a major feature of 9p13 deletion syndrome.
American journal of medical genetics. Part AClinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.
Frontiers in pediatricsNeuropilin-1 expression in GnRH neurons regulates prepubertal weight gain and sexual attraction.
The EMBO journal[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Case of Familial Male-limited Precocious Puberty with a Novel Mutation.
Journal of clinical research in pediatric endocrinologyTall stature in children and adolescents.
Minerva pediatricaGENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.
European journal of endocrinologyClinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
Orphanet journal of rare diseasesNovel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.
The Journal of clinical endocrinology and metabolismBilateral Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case Report and Literature Review.
World neurosurgeryTwo Subsequent Metachroneus Solid Tumors: Oncocytic Variant Adrenocortical Carcinoma and Rhabdomyosarcoma of Childhood: Case Report and Literature Review.
Journal of clinical research in pediatric endocrinologyCystic Trophoblastic Tumor in a Primary Central Nervous System Post-Chemotherapy Germ Cell Tumor: The First Case Report.
International journal of surgical pathologyA Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
AJNR. American journal of neuroradiologyMKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons.
The Journal of clinical investigationIdentification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyUrogenital Abnormalities in Adenosine Deaminase Deficiency.
Journal of clinical immunologyPretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study.
The Journal of clinical endocrinology and metabolismTranscriptomic analysis of dead end knockout testis reveals germ cell and gonadal somatic factors in Atlantic salmon.
BMC genomicsTESTOTOXICOSIS WITH AN EPISODIC COURSE: AN UNUSUAL CASE WITHIN A SERIES.
AACE clinical case reportsRevisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
The Journal of clinical endocrinology and metabolismBody mass index growth trajectories, early pubertal maturation, and short stature.
Pediatric researchH4S1ph, an alternative epigenetic marker for sperm maturity.
AndrologiaA cross-sectional survey of adrenal steroid hormones among overweight/obese boys according to puberty stage.
BMC pediatricsThe first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Clinica chimica acta; international journal of clinical chemistryKCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain : a journal of neurologyAndrogens in Congenital Adrenal Hyperplasia.
Frontiers of hormone researchA Tissue- and Temporal-Specific Autophagic Switch Controls Drosophila Pre-metamorphic Nutritional Checkpoints.
Current biology : CBTestotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.
Endocrine researchClinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Molecular genetics & genomic medicineEpileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
NeuropediatricsTowards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.
Hormone research in paediatricsCentral precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome.
Pediatric investigationNovel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Journal of pediatric endocrinology & metabolism : JPEMEndocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.
BMJ case reportsRole of polygenic risk in susceptibility to accelerated pubertal onset following chronic stress exposure.
European journal of endocrinologyAn Unusual Presentation of Carney Complex.
Journal of clinical research in pediatric endocrinologyTherapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
Journal of pediatric endocrinology & metabolism : JPEMMiR-664-2 impacts pubertal development in a precocious-puberty rat model through targeting the NMDA receptor-1†.
Biology of reproductionIdiopathic gonadotropin-independent precocious puberty - is regular surveillance required?
Journal of pediatric endocrinology & metabolism : JPEMGrowth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Hormone research in paediatricsCentral precocious puberty, functional and tumor-related.
Best practice & research. Clinical endocrinology & metabolismDiseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor.
Progress in molecular biology and translational scienceAssociation between the onset age of puberty and parental height.
PloS oneNovel DNA variation of GPR54 gene in familial central precocious puberty.
Italian journal of pediatricsHyperandrogenism in a child with multiple endocrine neoplasia type 1.
Endocrinologia, diabetes y nutricionGonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.
Hormone research in paediatricsA familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.
Journal of neurosurgery. PediatricsA novel mutation in 5'-UTR of Makorin ring finger 3 gene associated with the familial precocious puberty.
Acta biochimica et biophysica SinicaPrecocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.
Hormones (Athens, Greece)High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.
European journal of endocrinologyHydroxymethylation of protein-encoding genes in the testes involved in precocious puberty of Eriocheir sinensis.
GeneA New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
The Journal of clinical endocrinology and metabolismCompound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.
Annals of pediatric endocrinology & metabolismA Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome.
Journal of the Endocrine SocietyMKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study.
Hormone research in paediatricsInsights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
EndocrineA Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.
BMC endocrine disordersNext-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.
Hormone research in paediatricsLate onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
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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.
- 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).
- Three cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:650097(Orphanet)
- MONDO:0968990(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar