Raras
Buscar doenças, sintomas, genes...
Puberdade precoce central no indivíduo masculino
ORPHA:649929PCDT · SUSDOENÇA RARA

Os bloqueadores da puberdade, também chamados de inibidores da puberdade ou bloqueadores hormonais, são medicamentos usados para adiar a puberdade em crianças. Os bloqueadores da puberdade mais comumente usados são os agonistas do hormônio liberador de gonadotrofina (GnRH), que suprimem a produção de hormônios sexuais, incluindo testosterona e estrogênio. Além de seus vários outros usos médicos, os bloqueadores da puberdade são usados por crianças trans e em questionamento para retardar o desenvolvimento de características sexuais secundárias indesejadas, modo a permitir que os jovens trans tenham mais tempo para explorar a sua identidade.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Puberdade precoce central em meninos, caracterizada pelo desenvolvimento puberal antes dos 9 anos, frequentemente associada a mutações nos genes MKRN3, KISS1R ou KISS1. Pode ser idiopática ou secundária a lesões hipotalâmicas/hipofisárias.

Publicações científicas
2 artigos
Último publicado: 2023
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SUS: Cobertura mínimaScore: 30%
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O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Total histórico2PubMed
Últimos 10 anos200publicações
Pico202598 papers
Linha do tempo
2023Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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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.

MKRN3E3 ubiquitin-protein ligase makorin-3Candidate gene tested inDesconhecido
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Brain Spinal cord cervical c-1
3.4 TPM
Testículo
1.9 TPM
Glândula salivar
1.7 TPM
Hipocampo
1.6 TPM
Esôfago - Mucosa
1.4 TPM
OUTRAS DOENÇAS (3)
precocious puberty, central, 2genetic central precocious puberty in malegenetic central precocious puberty in female
HGNC:7114UniProt:Q13064
KISS1RKiSS-1 receptorCandidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
G alpha (q) signalling eventsPeptide ligand-binding receptors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Hipotálamo
3.2 TPM
Linfócitos
2.5 TPM
Brain Nucleus accumbens basal ganglia
2.0 TPM
Pituitária
1.8 TPM
Brain Anterior cingulate cortex BA24
1.0 TPM
OUTRAS DOENÇAS (5)
hypogonadotropic hypogonadism 8 with or without anosmiacentral precocious puberty 1genetic central precocious puberty in malehypogonadotropic hypogonadism
HGNC:4510UniProt:Q969F8
KISS1Metastasis-suppressor KiSS-1Candidate gene tested inDesconhecido
FUNÇÃO

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

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
G alpha (q) signalling eventsPeptide ligand-binding receptors
MECANISMO DE DOENÇA

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).

EXPRESSÃO TECIDUAL(Tecido-específico)
Testículo
8.1 TPM
Pituitária
3.0 TPM
Cerebelo
2.0 TPM
Brain Nucleus accumbens basal ganglia
1.9 TPM
Fígado
1.7 TPM
OUTRAS DOENÇAS (3)
hypogonadotropic hypogonadism 13 with or without anosmiagenetic central precocious puberty in malehypogonadotropic hypogonadism
HGNC:6341UniProt:Q15726
DLK1Protein delta homolog 1Candidate gene tested inAltamente restrito
FUNÇÃO

May have a role in neuroendocrine differentiation

LOCALIZAÇÃO

MembraneCytoplasm

VIAS BIOLÓGICAS (1)
Activated NOTCH1 Transmits Signal to the Nucleus
EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
604.0 TPM
Pituitária
516.2 TPM
Ovário
147.9 TPM
Testículo
23.3 TPM
Hipotálamo
20.7 TPM
OUTRAS DOENÇAS (8)
genetic central precocious puberty in femalegenetic central precocious puberty in malepaternal uniparental disomy of chromosome 14paternal 14q32.2 microdeletion syndrome
HGNC:2907UniProt:P80370

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Fensolvi (LEUPROLIDE ACETATE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

126 variantes patogênicas registradas no ClinVar.

🧬 DLK1: GRCh37/hg19 14q32.2-32.33(chr14:97521552-107285437)x3 ()
🧬 DLK1: GRCh37/hg19 14q32.2-32.33(chr14:101180490-106329074)x1 ()
🧬 DLK1: GRCh37/hg19 14q32.2-32.31(chr14:100419086-101506214)x1 ()
🧬 DLK1: GRCh37/hg19 14q32.2(chr14:100678749-101242671)x1 ()
🧬 DLK1: GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Puberdade precoce central no indivíduo masculino

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.

International journal of molecular sciences2026 Feb 09

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.

#2

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

World journal of pediatrics : WJP2026 Feb

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.

#3

Progression from Peripheral to Central Precocious Puberty in a Child with Leydig Cell Tumor.

Indian journal of pediatrics2026 Feb

An 8-y-old boy presented with premature virilization and was found to have peripheral precocious puberty due to a unilateral Leydig cell tumor. The mass was surgically excised, and histopathology confirmed the diagnosis. Postoperatively, androgen levels normalized; however, within months, he developed accelerated growth, testicular enlargement, and rising gonadotropins, consistent with central precocious puberty. Treatment with a gonadotropin releasing hormone analogue stabilized pubertal progression. This case underscores the need to consider Leydig cell tumors in boys with early virilization and highlights the risk of central activation even after curative surgery. Vigilant long-term follow-up is crucial for timely recognition and management to optimize growth and psychosocial outcomes.

#4

A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.

Hormone research in paediatrics2026 Mar 20

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.

#5

Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).

Frontiers in endocrinology2026

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.

Hormone research in paediatrics
2026

Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).

Frontiers in endocrinology
2026

Final adult height in male patients with central precocious puberty after gonadotropin-releasing hormone agonist treatment.

Annals of pediatric endocrinology & metabolism
2026

Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.

International journal of molecular sciences
2026

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Frontiers in endocrinology
2026

Three cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.

AME case reports
2026

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

World journal of pediatrics : WJP
2026

Sex Cord-Stromal Tumours in Children: A Case Series.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

Puberty assessment in general practice: between recommendations and reality-results from two qualitative studies on perceptions and use of Tanner staging.

Family practice
2025

Pituitary Imaging: Indications and Outcomes From a Tertiary Pediatric Center in the United Arab Emirates.

Cureus
2026

Systematic Review and Meta-Analysis of Abnormal Pubertal Timing in Children With Autism Spectrum Disorder (ASD).

Autism research : official journal of the International Society for Autism Research
2026

ADHTransNet-based radiomics on multimodal pituitary MRI for non-invasive hormone prediction in children.

Computer methods and programs in biomedicine
2026

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.

Journal of clinical research in pediatric endocrinology
2026

Progression from Peripheral to Central Precocious Puberty in a Child with Leydig Cell Tumor.

Indian journal of pediatrics
2026

Transcriptomics identified crucial candidate genes and pathways regulating early testicular development of drakes in the hypothalamic-pituitary-gonadal/thyroid axes.

BMC genomics
2025

Exposure to heavy metals, bisphenol A, and phthalates: Implications for precocious or delayed puberty.

PloS one
2026

The 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
2025

Analysis 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.

Medicine
2025

High-fat diet-induced obesity accelerates puberty in male rats through SMIM20/phoenixin upregulation.

Frontiers in endocrinology
2025

A retrospective analysis of spontaneous reports of suspected adverse drug reactions to triptorelin acetate in a tertiary pediatric medical center: still a lot of preventable harm.

BMC pediatrics
2025

Global prevalence and incidence of precocious puberty: a systematic review and meta-analysis.

BMC public health
2025

Does gonadotropin-releasing hormone analogue treatment alter body mass index in boys with central precocious puberty?

European journal of pediatrics
2026

The impact of parenting stress on problem behavior in girls with precocious puberty: Exploring the mediating role of family expressiveness.

Acta psychologica
2026

The effect of the magic glove technique on pain and anxiety in children during leuprolide injection: A quasi-experimental study.

Journal of pediatric nursing
2025

Stayability 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 Zuchtungsbiologie
2025

Phenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.

Hormone research in paediatrics
2025

Silent Threat: A Complex Presentation of Testicular Adrenal Rest Tumors in a Male With Congenital Adrenal Hyperplasia.

Clinical case reports
2025

Genetic Parameters for Novel Feedlot Profitability-Related Traits in Nelore Cattle.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
2025

Disorders of Puberty: Common Questions and Answers.

American family physician
2026

Urinary metabolomic biomarkers for diagnosing central precocious puberty and revealing sexual dimorphism.

The Journal of steroid biochemistry and molecular biology
2025

[Clinical characteristics of pediatric primary intracranial germ cell tumors and risk factors for neuroendocrine dysfunction].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Comparative Efficacy of GnRHa Monotherapy vs Combination Therapy for Central Precocious Puberty.

The Journal of clinical endocrinology and metabolism
2025

Correlation analysis of pituitary morphometry in boys with idiopathic central precocious puberty or early puberty: implications for diagnosis.

Translational pediatrics
2026

Serum α-Klotho and its association with testosterone in boys with central precocious puberty.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

The Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs).

Cureus
2025

Screen time and pubertal development: a systematic review and meta-analysis.

Annals of human biology
2025

Beyond the tumor: endocrine and metabolic dysregulation in intracranial germ cell tumors - a retrospective cohort study.

Arquivos de neuro-psiquiatria
2025

Safety evaluation of cinacalcet: Signal mining and analysis of adverse events based on the FAERS database.

PloS one
2026

Imaging findings in a male pediatric patient by central precocious puberty: A case report.

Radiology case reports
2026

MECP2 Rare Variants in Boys With Central Precocious Puberty.

The Journal of clinical endocrinology and metabolism
2025

Carney Complex During Six-Year Follow-Up and Its Association With Attention-Deficit Hyperactivity Disorder: A Case Report.

Cureus
2025

Peripheral Precocious Puberty Due to Autonomous Gonadal Activation: A Multicenter Experience.

Cureus
2026

Precocious Puberty and Risk of Psychiatric Disorders: A Nationwide Cohort Study Using Prospective Registry Data.

The Journal of clinical endocrinology and metabolism
2025

Therapeutic potential of luteolin in central precocious puberty: insights from a danazol-induced rat model.

Frontiers in endocrinology
2025

Rethinking 'normal': are pubertal milestones and growth charts obsolete?

Trends in endocrinology and metabolism: TEM
2026

Brighter Bedroom Light at Night Predicts Risk for Earlier Pubertal Onset: A 2-Year Longitudinal Study.

The Journal of clinical endocrinology and metabolism
2025

Clinical efficacy and influence on the quality of life of children with precocious puberty treated by combination of cluster nursing and triptorelin.

Medicine
2026

A New Program for Determining Abnormal Growth Curves in School Health Checkups.

The Journal of school health
2025

Association between 2D:4D digit ratios and metabolic markers and hormonal parameters in children with premature adrenarche: A cross-sectional study from Türkiye.

Early human development
2025

Blue Light Effect on Metabolic Changes in Induced Precocious Puberty in Rats.

Biology
2025

The relationship between health literacy and medical decision conflict among parents of children newly diagnosed with central precocious puberty.

Journal of pediatric nursing
2025

Triptorelin associated adverse events evaluated using FAERS pharmacovigilance data.

Scientific reports
2025

Premature adrenarche and metabolic risk: a systematic review and meta-analysis.

European journal of endocrinology
2025

Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.

Endocrine regulations
2025

Precocious puberty in a rural Guatemalan boy: Unraveling the role of malnutrition and psychosocial stress.

Oxford medical case reports
2026

Association between vitamin D and central precocious puberty in children: Threshold effects and mediation mechanisms based on LC-MS/MS quantitation.

Journal of endocrinological investigation
2025

Skeletal and endocrine manifestations of McCune-Albright syndrome in patients with fibrous dysplasia.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Burosumab treatment for fibroblast growth factor-23-associated hypophosphatemia in an adult patient with severe fibrous dysplasia in McCune-Albright syndrome: case report and review of the literature.

JBMR plus
2025

Association of Serum Vascular Endothelial Growth Factor-A With Pubertal Stage by Sex and Its Relationship With Precocious Puberty in Girls.

Journal of Korean medical science
2025

Breastfeeding, Prepubertal Adiposity, and Development of Precocious Puberty.

JAMA network open
2025

Imaging Characteristics of Hypothalamic Hamartomas in an Australian Paediatric Population.

Journal of medical imaging and radiation oncology
2026

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.

American journal of medical genetics. Part A
2025

New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.

Journal of medical genetics
2025

Central precocious puberty in boys; diagnosis, treatment and follow-up: a nation-wide study.

Endocrine
2025

Sweeteners and puberty: investigating genetic and dietary influences on central precocious puberty.

Journal of endocrinological investigation
2026

Association of Obesity and Overweight with Early Puberty in Boys: A Meta Analysis.

Journal of clinical research in pediatric endocrinology
2025

Central Precocious Puberty in Males, GnRH Analog Treated or Untreated, Did Not Impact Fertility and Health in Midadulthood.

The Journal of clinical endocrinology and metabolism
2025

Predicted Adult Height Remained Normal in Children With Premature Adrenarche Despite Advanced Bone Age.

Acta paediatrica (Oslo, Norway : 1992)
2025

Computable Phenotyping: Disease-Agnostic Translational Methods to Puberty and Diabetes in Adolescent Males.

Nursing research
2025

Sleep Duration Transitions Among Children With Central Precocious Puberty Across Pubertal Development.

The Journal of adolescent health : official publication of the Society for Adolescent Medicine
2025

Molecular Mechanisms of Premature Hippocampal and Hypothalamic Senescence Induced by Maternal Exposure to DBP in Male Offspring Mice.

Environmental science &amp; technology
2025

Adverse event profile differences among long-acting gonadotropin-releasing hormone analogs: A real-world, pharmacovigilance study.

PloS one
2025

Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Gender differences in drug-induced precocious puberty: a real-world analysis of adverse event reports from the FDA FAERS database (2004-2024).

BMC pediatrics
2025

Exploring the Relationship between Parental Stress and Child Behavioral Problems in Precocious Puberty: The Role of Parenting and Coping Strategies.

Yonsei medical journal
2025

Central Precocious Puberty and Psychiatric Disorders.

JAMA network open
2025

Evaluation of Short and Tall Stature in Children.

American family physician
2025

Internet-Based Comprehensive Disease Management in Children With Precocious Puberty: A Randomized Controlled Trial.

Clinical pediatrics
2025

Beyond the scrotal circumference: Exploring phenotypic, nutritional and metabolic traits associated with early sexual development in young Nelore (Bos indicus) bulls.

Theriogenology
2025

Mental and Emotional Health of Youth after 24 months of Gender-Affirming Medical Care Initiated with Pubertal Suppression.

medRxiv : the preprint server for health sciences
2025

Comparison 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 &amp; metabolism : JPEM
2025

Impact of the COVID-19 pandemic on the incidence of central precocious puberty: A PRISMA-ScR-COMPLIANT scoping review.

Archives of endocrinology and metabolism
2025

Impact of Optic Pathway Gliomas on Puberty and Growth in Neurofibromatosis Type 1: A 20-Year Experience From a Tertiary Center.

Journal of child neurology
2025

Back to normal? A retrospective study on stimulation test and endocrinological diagnosis before, during and after COVID-19 pandemics.

Frontiers in endocrinology
2025

Early life factors of precocious puberty based on Korean nationwide data.

Scientific reports
2025

The US Supreme Court Joins the Debate Over Gender Dysphoria.

Clinical therapeutics
2025

Luteinizing Hormone Regulates Testosterone Production, Leydig Cell Proliferation, Differentiation, and Circadian Rhythm During Spermatogenesis.

International journal of molecular sciences
2025

Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.

BMC pediatrics
2025

Brain tissue biomarker impact bone age in central precocious puberty more than hormones: a quantitative synthetic magnetic resonance study.

Japanese journal of radiology
2025

Epidemiology of disorders associated with tall stature in childhood: A 20-year birth cohort study.

PloS one
2025

Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH.

Endocrinology, diabetes &amp; metabolism case reports
2025

Maternal dopamine agonist treatment before pregnancy reverses infertility and hyperprolactinemia in hCG-overexpressing mice through lactation: Evidence of generational effects.

Molecular and cellular endocrinology
2025

Production 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 biology
2025

[Analysis on psychosocial factors for early puberty in children].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
2025

Early-Life Risks of Central Precocious Puberty.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2025

Risk factors for precocious puberty: A systematic review and meta‑analysis.

Psychoneuroendocrinology
2025

Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center.

Frontiers in endocrinology
2025

The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Robot-assisted MRI-guided laser interstitial thermal therapy for a giant sessile hypothalamic hamartoma in an 8-year-old boy: illustrative case.

Journal of neurosurgery. Case lessons
2025

Mapping the serum testosterone landscape in boys aged 1-14 years: A population-based study.

Journal of pediatric urology
2025

Comparison of serious adverse effects of methylphenidate, atomoxetine and amphetamine in the treatment of ADHD: an adverse event analysis based on the FAERS database.

BMC pharmacology &amp; toxicology
2025

[Application of colloidal gold method and chemiluminescence method for detecting gonadotropins in morning urine to assess pubertal development status in children].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Long-Term Exposure to Fine Particulate Matter (PM2.5) Components and Precocious Puberty Among School-Aged Children: Cross-Sectional Study.

JMIR public health and surveillance
2025

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

BMC medical genomics
2025

A novel model of central precocious puberty disease: Paternal MKRN3 gene-modified rabbit.

Animal models and experimental medicine
2024

Occurrence and Exposure Assessment of Zearalenone in the Zhejiang Province, China.

Toxins
2025

Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome.

BMJ case reports
2025

Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

The Journal of clinical endocrinology and metabolism
2024

Childhood obesity and central precocious puberty.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2025

Basal and Stimulated Inhibin B in Pubertal Disorders.

The Journal of clinical endocrinology and metabolism
2025

Endocrine dysfunction in long-term survivors of pediatric head and neck rhabdomyosarcoma.

European journal of endocrinology
2024

Inflammation and oxidative stress processes in induced precocious puberty in rats.

Heliyon
2024

CircRNA profiling reveals the regulatory role of circPAN3 in Hezuo boars Sertoli cell growth.

BMC genomics
2024

Interaction between Vitamin D homeostasis, gut microbiota, and central precocious puberty.

Frontiers in endocrinology
2025

Body composition in prepubertal children with idiopathic premature adrenarche: implications for cardiometabolic health.

Pediatric research
2025

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

The Journal of clinical endocrinology and metabolism
2024

Metabolomic disorders caused by an imbalance in the gut microbiota are associated with central precocious puberty.

Frontiers in endocrinology
2025

Precocious Puberty in Children with Neurofibromatosis Type 1.

The Journal of pediatrics
2025

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

Clinical genetics
2024

[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 genetics
2024

Long term effects of aromatase inhibitor treatment in patients with aromatase excess syndrome.

Frontiers in endocrinology
2024

The Regulatory Effect of Insulin-Like Growth Factor-2 on Hypothalamic Gonadotropin-Releasing Hormone Neurons during the Pubertal Period.

Journal of integrative neuroscience
2024

Variations in Sex Characteristics.

Obstetrics and gynecology clinics of North America
2026

Utility of First-Morning-Voided Urinary Total Luteinizing Hormone in Detecting the Onset of Central Puberty.

Hormone research in paediatrics
2025

Clinical and Genetic Mechanisms in Patients with <italic>MC2R</italic> Deficiency Presenting with Early Puberty.

Hormone research in paediatrics
2025

Buserelin Promotes the Differentiation and Function of Macrophage-Colony-Stimulating Factor-Producing T Helper Cells.

Immunological investigations
2025

Clinical utility of anti-Müllerian hormone in female children and adolescents.

Hormones (Athens, Greece)
2025

Serum DLK1 During Minipuberty and Pubertal Transition in Healthy Girls and in Girls With Precocious Puberty.

The Journal of clinical endocrinology and metabolism
2024

A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Irisin in Reproduction: Its Roles and Therapeutic Potential in Male and Female Fertility Disorders.

Biomolecules
2024

Comparison of central precocious puberty frequency before and during COVID-19: a systematic review and meta-analysis.

BMC endocrine disorders
2024

A 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 therapy
2024

Central Precocious Puberty in a Male Child With Down Syndrome: A Case Report.

Cureus
2025

Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients.

The Journal of clinical endocrinology and metabolism
2024

Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort analysis.

Frontiers in endocrinology
2024

The 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 genetics
2024

Evaluating Phthalates and Bisphenol in Foods: Risks for Precocious Puberty and Early-Onset Obesity.

Nutrients
2025

Pubertal, Auxological, and Adult Height Outcomes in Children Treated for Adrenocortical Tumors: Half a Century Experience.

Hormone research in paediatrics
2024

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Cytogenetic and genome research
2024

"Sexual Development": Timing Puberty in German Enlightenment Medicine (1778-99).

Canadian journal of health history = Revue canadienne d'histoire de la sante
2025

"Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1".

Journal of endocrinological investigation
2024

Central 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
2024

[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 genetics
2024

Conservative management of gynecomastia in Peutz-Jeghers syndrome: Case series and review of the literature.

Pediatric blood &amp; cancer
2024

Precocious puberty, pandemic and beyond.

Pituitary
2024

[Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

Primary central nervous system germ cell tumors in Central America and the Caribbean Region: an AHOPCA 20-year experience.

Frontiers in oncology
2024

Acceleration of skeletal maturation in Central Europe over the last two decades: insights from two cohorts of healthy children.

Pediatric radiology
2024

Precocious puberty and other endocrine disorders during mitotane treatment for paediatric adrenocortical carcinoma - case series and literature review.

Pediatric endocrinology, diabetes, and metabolism
2024

Serum INSL3 measured by LC-MS/MS in pubertal girls and in girls with precocious puberty during GnRH agonist treatment.

Frontiers in endocrinology
2025

Gamma Knife Radiosurgery for Hypothalamic Hamartoma: A Multi-Institutional Retrospective Study on Safety, Efficacy, and Complication Profile.

Neurosurgery
2024

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Nature genetics
2024

[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 genetics
2024

Premature pubarche in Prader-Willi syndrome: Risk factors and consequences.

Clinical endocrinology
2024

Childhood Obesity, Hypothalamic Inflammation, and the Onset of Puberty: A Narrative Review.

Nutrients
2024

Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

[Associations between puberty timing and cardiovascular metabolic risk factors among primary and secondary students].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2024

Early Puberty Trend during the COVID-19 Pandemic in Singapore: A Retrospective Review in a Single Tertiary Centre.

Journal of the ASEAN Federation of Endocrine Societies
2024

The genetic etiology is a relevant cause of central precocious puberty.

European journal of endocrinology
2024

Natural sweetener glycyrrhizin protects against precocious puberty by modulating the gut microbiome.

Life sciences
2024

Association between 25-hydroxyvitamin D concentrations and pubertal timing: 6-14-year-old children and adolescents in the NHANES 2015-2016.

Frontiers in endocrinology
2024

The relationship between bisphenol A and phthalates with precocious puberty in Vietnamese children.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?

Journal of clinical research in pediatric endocrinology
2024

Short Adult Height After Rapid-tempo Puberty: When is it too Late to Treat?

Journal of clinical research in pediatric endocrinology
2024

Imprinting disorders in children conceived with assisted reproductive technology in Sweden.

Fertility and sterility
2024

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

American journal of medical genetics. Part A
2024

Early life interventions metformin and trodusquemine metabolically reprogram the developing mouse liver through transcriptomic alterations.

Aging cell
2024

Isolation, culture, characterization and the functional study of testicular Leydig cells from Hezuo pig.

Reproduction in domestic animals = Zuchthygiene
2025

Precocious Puberty and GnRH Analogs: Current Treatment Practices and Perspectives among US Pediatric Endocrinologists.

Hormone research in paediatrics
2025

Unstimulated Luteinizing Hormone for Assessment of Suppression during Treatment of Central Precocious Puberty with 6-Month Subcutaneous Leuprolide Acetate: Correlations with Clinical Response.

Hormone research in paediatrics
2024

Presentation and Care for Children with Peripheral Precocious Puberty.

Endocrinology and metabolism clinics of North America
2024

Diagnosis, Treatment, and Outcomes of Males with Central Precocious Puberty.

Endocrinology and metabolism clinics of North America
2024

Diagnosis of Central Precocious Puberty.

Endocrinology and metabolism clinics of North America
2025

Long-Acting Gonadotropin-Releasing Hormone Analogues for Central Precocious Puberty, Including 45-Mg 6-Month Subcutaneous Leuprolide Acetate: Use for Treatment and Treatment Monitoring.

Hormone research in paediatrics
2024

Elevated serum irisin levels in boys with central precocious puberty independent of BMI.

Endokrynologia Polska
2024

Long-term exposure to air pollution and precocious puberty in South Korea.

Environmental research
2024

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Orphanet journal of rare diseases
2024

Central precocious puberty in boys: secular trend and clinical features.

European journal of endocrinology
2024

Fifteen-minute consultation: The approach to the child with precocious puberty.

Archives of disease in childhood. Education and practice edition
2024

Girls with idiopathic central precocious puberty did not display substatial changes in body mass index after treatment with gonadotropin-releasing hormone analogues.

Acta paediatrica (Oslo, Norway : 1992)
2024

Very long-term outcomes of pediatric patients treated for optic pathway gliomas: A longitudinal cohort study.

Neuro-oncology
2024

Unusual imaging findings associated with abdominal pediatric germ cell tumors.

Pediatric radiology
2024

Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.

Annals of pediatric endocrinology &amp; metabolism
2024

Congenital adrenal hyperplasia complicated by gonadotropin-dependent precocious puberty.

BMJ case reports
2024

Association of Traditional dietary pattern with early and precocious puberty: a population-based cross-sectional study.

Pediatric research
2024

Novel variants ensued genomic imprinting in familial central precocious puberty.

Journal of endocrinological investigation
2024

Genetic 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 Zuchtungsbiologie
2024

[A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology].

Problemy endokrinologii
2024

Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.

The Journal of clinical endocrinology and metabolism
2024

Let Kids Play: Using Virtual Reality as a Substitute for General Anesthesia for Minor Procedures in Pediatric Population.

Journal of pediatric surgery
2024

Loss of Fshr Prevents Testicular Maturation in Atlantic Salmon (Salmo salar L.).

Endocrinology
2025

Puberty Today, Gone Tomorrow: Transient Refractory Central Precocious Puberty in a Toddler with End-Stage Kidney Disease.

Hormone research in paediatrics
2024

Oncological and endocrinological outcomes for children and adolescents with testicular and ovarian sex cord-stromal tumors. Results of the TGM13 National Registry.

Pediatric blood &amp; cancer
2023

A Short-Duration Gonadotropin-Releasing Hormone Stimulation Test for the Diagnosis of Central Precocious Puberty.

Medicina (Kaunas, Lithuania)
2024

The Effect of GnRHa Treatment on Body Mass Index in Central Precocious Puberty: A Systematic Review and Meta-Analysis.

Hormone research in paediatrics
2024

Update on Adrenarche-Still a Mystery.

The Journal of clinical endocrinology and metabolism
2024

[Adrenal cortical carcinoma in children: a clinicopathological analysis of 25 cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2024

Analysis of the differentially expressed genes in the combs and testes of Qingyuan partridge roosters at different developmental stages.

BMC genomics
2024

Global production and research trends on precocious puberty in the Web of Science database from 2000 to 2023: A bibliometric approach.

Pediatric endocrinology, diabetes, and metabolism

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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.

  1. Preliminary Study on Sexual Maturation Pattern of Shenxian Pigs and Molecular Characteristics of Sexual Precocity in Boars.
    International journal of molecular sciences· 2026· PMID 41751800mais citado
  2. Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
    World journal of pediatrics : WJP· 2026· PMID 41642464mais citado
  3. Progression from Peripheral to Central Precocious Puberty in a Child with Leydig Cell Tumor.
    Indian journal of pediatrics· 2026· PMID 41486225mais citado
  4. A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
    Hormone research in paediatrics· 2026· PMID 41861056mais citado
  5. Sex- and stage-dependent expression of gonadal soma-derived factor paralogues reveals functional and evolutionary divergence in European sea bass (Dicentrarchus labrax).
    Frontiers in endocrinology· 2026· PMID 41847450mais citado
  6. An updated meta-analysis of the relationship between vitamin D levels and precocious puberty.
    Front Endocrinol (Lausanne)· 2023· PMID 38116317recente
  7. Pelvic Ultrasound Parameters of Long-Acting Depot Formulation of Leuprorelin in the Treatment of Idiopathic Central Precocious Puberty in Girls.
    Drug Des Devel Ther· 2021· PMID 33854300recente

Bases de dados e fontes oficiais

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  1. ORPHA:649929(Orphanet)
  2. MONDO:0958270(MONDO)
  3. Puberdade Precoce Central(PCDT · Ministério da Saúde)
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)

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