A Puberdade Precoce Central (PPC), também chamada de puberdade precoce que depende de hormônios do cérebro (gonadotrofinas), é uma doença do desenvolvimento ligada ao sistema hormonal. Ela se caracteriza pelo início das mudanças da puberdade, com o aparecimento das características sexuais secundárias, crescimento acelerado e o amadurecimento rápido dos ossos, tudo isso antes da idade considerada normal para a puberdade (8 anos em meninas e 9 anos em meninos).
Introdução
O que você precisa saber de cara
A Puberdade Precoce Central (PPC), também chamada de puberdade precoce que depende de hormônios do cérebro (gonadotrofinas), é uma doença do desenvolvimento ligada ao sistema hormonal. Ela se caracteriza pelo início das mudanças da puberdade, com o aparecimento das características sexuais secundárias, crescimento acelerado e o amadurecimento rápido dos ossos, tudo isso antes da idade considerada normal para a puberdade (8 anos em meninas e 9 anos em meninos).
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
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.
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.
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.
May have a role in neuroendocrine differentiation
MembraneCytoplasm
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).
Variantes genéticas (ClinVar)
126 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 rara
Selecione um estado ou use sua localização para ver resultados.
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
Central Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and Treatment.
Neurofibromatosis 1-associated optic pathway gliomas (OPGs) may co-occur with central precocious puberty (CPP). Using large language model-based data analysis from 2 NF centers, we compared OPGs in children with NF1, with and without CPP. CPP was associated with hypothalamic involvement, poorer vision, and a higher likelihood of OPG treatment.
Isolated Premature Menarche in a 17-Month-Old: A Case Report.
BACKGROUND Vaginal bleeding in prepubertal girls is an uncommon finding and should always prompt thorough evaluation. Puberty is a complex physiological process resulting from maturation of the hypothalamic-pituitary-gonadal axis. Precocious puberty is defined as the early onset of secondary sexual characteristics before the age of 8 years in girls. The incidence ranges from 1 in 5000 to 1 in 10 000 girls worldwide. In contrast, isolated premature menarche is a rare and benign condition characterized by vaginal bleeding without other signs of pubertal activation and remains a diagnosis of exclusion. CASE REPORT We report a 17-month-old female infant who presented with recurrent vaginal bleeding every month over the 3 months prior to admission. Physical examination showed normal external genitalia, with no signs of inflammation, trauma, foreign body, or sexual abuse. There were no secondary sexual characteristics, and growth parameters were appropriate for age. Laboratory examination revealed prepubertal basal gonadotropin levels, normal hormonal levels, normal thyroid function tests, and bone age consistent with chronological age. Platelet function testing showed hyperaggregation, considered a transient and incidental finding. Pelvic ultrasonography demonstrated the size of the uterus was consistent with the age of puberty. After exclusion of local, endocrine, and systemic causes, a diagnosis of isolated premature menarche was established. CONCLUSIONS Menstrual-like vaginal bleeding in prepubertal girls requires systematic and comprehensive examination to differentiate isolated premature menarche from other diseases. Recognition of this benign entity is important to avoid unnecessary interventions and ascertain appropriate follow-up.
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfunctioning endocrinopathies such as precocious puberty, thyroid disease, growth hormone excess, and FGF23-mediated phosphate wasting. Mosaicism leads to marked clinical heterogeneity and complicates molecular diagnosis. We retrospectively analyzed clinical and genotyping data of patients referred for suspected or clinically diagnosed MAS in a single French center (2014-2025). GNAS R201C and R201H mutations were detected by digital droplet PCR using peripheral blood as first-line samples, with additional testing of circulating cell-free, saliva, or tissue when indicated. We included 405 patients, from which 89 (22%) carried a GNAS mutation (52 R201C, 37 R201H). No significant clinical differences were observed between R201C and R201H. Among 578 analyzed samples, mutation detection varied by sample type, with the highest rates in tissue. Mutant allele frequency (MAF) in blood DNA was higher in patients with polyostotic than in FD (p = 0.0055), but was not associated with the overall MAS-related lesion number. No correlation was found between MAF and age at diagnosis. MAS shows substantial clinical and molecular heterogeneity without clear genotype-phenotype differences between R201 variants. Mutation detection strongly depends on sample type, reflecting disease mosaicism. A multimodal diagnostic strategy and larger collaborative cohorts are needed to optimize molecular diagnosis and refine genotype-phenotype correlations in MAS patients.
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.
Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Bone age (BA) assessment is essential for monitoring growth and maturation and guiding therapeutic interventions. While deep learning (DL) models offer high-speed automated BA prediction, their generalizability to rare pathological and diagnostically complex populations remains a significant concern. This study aims to validate the open-source DL system Deeplasia on external data from pediatric patients with various syndromic, endocrine, and lysosomal storage disorders (LSDs) and to compare its accuracy and consistency against multiple expert human raters. We retrospectively assembled 1,138 hand radiographs from multiple centers, including patients with SHOX deficiency; Noonan syndrome; Silver-Russell syndrome; Ullrich-Turner syndrome; pseudohypoparathyroidism; congenital adrenal hyperplasia (CAH); precocious puberty and precocious pseudopuberty (cohort 1); mucopolysaccharidosis types I, II, III, IV, and VI; alpha-mannosidosis; and unclassified LSDs (cohort 2). For each radiograph, BA was evaluated using the Greulich and Pyle method by two to five human experts to obtain a mean BA reference. Model performance was assessed using the mean absolute error (MAE), root mean squared error (RMSE), and 1-year accuracy for each cohort and underlying conditions, sex, and age groups. Furthermore, Deeplasia's performance was compared with that of individual raters by testing each rater and the model against the remaining experts. Deeplasia achieved a mean MAE of 5.95 months, an RMSE of 8.01 months, and a 1-year accuracy of 89.9% for cohort 1 (endocrine and syndromic conditions). For cohort 2 (lysosomal storage disorders), Deeplasia achieved a mean MAE of 7.13 months, an RMSE of 9.56 months, and a 1-year accuracy of 81.2%. In direct comparisons between Deeplasia and individual raters tested against the remaining experts, Deeplasia outperformed all human raters. Deeplasia was validated as a highly consistent, robust, and reliable tool for BA assessment in complex cases. It demonstrated superior accuracy compared with individual human raters and may assist clinicians in BA evaluation.
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📚 EuropePMCmostrando 198
Isolated Premature Menarche in a 17-Month-Old: A Case Report.
The American journal of case reportsGenotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
Annales d'endocrinologieA Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
Hormone research in paediatricsCentral Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and Treatment.
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Frontiers in endocrinologyRare Combination of PKD and precocious puberty in a HNF1B mutated little girl.
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CureusSex 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 SocietyIsolated Menarche and Empty Sella Turca: A Rare Pediatric Case.
CureusCase Report: Van Wyk-Grumbach syndrome presenting as vaginal bleeding: diagnostic value of pituitary and pelvic imaging.
Frontiers in pediatricsDe novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Journal of human geneticsMcCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.
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Frontiers in oncologyPrecocious puberty and other endocrine disorders during mitotane treatment for paediatric adrenocortical carcinoma - case series and literature review.
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SA journal of radiologyBiallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
American journal of medical genetics. Part AA pediatric case of two Nicolau syndrome lesions following leuprolide injection in the upper extremity.
Indian journal of pharmacologyNovel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
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Frontiers in endocrinologyIsolated Vaginal Bleeding Before the Onset of Puberty.
Endocrinology and metabolism clinics of North AmericaFemales with Breast Development before Three Years of Age.
Endocrinology and metabolism clinics of North AmericaCentral precocious puberty secondary to postoperative craniopharyngioma: two case reports and a literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDiagnostic Conundrum of a Sertoli Cell Tumor in a 2-Year-Old Girl with Peripheral Precocious Puberty and a Café-au-Lait Macule: A Case Report.
Hormone research in paediatricsDual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Orphanet journal of rare diseasesCentral precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation.
HeliyonMultimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.
Advances and technical standards in neurosurgeryHeterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.
European journal of endocrinologyVaginal bleeding imitated rape in a 6-year old girl, a case report about granulosa cell tumor as a reason of peripheral precocious puberty.
International journal of surgery case reportsInfantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity.
JCEM case reportsFamilial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.
Annals of pediatric endocrinology & metabolismNon-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Endocrine[Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]Giant supra and retrosellar glioependymal cyst presenting with only precocious puberty. Clinical study and review of the literature.
International journal of surgery case reportsCongenital Adrenal Hyperplasia.
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Pediatric blood & cancerChoosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
GenesFloating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.
Journal of clinical research in pediatric endocrinologyArtificial intelligence in paediatric endocrinology: conflict or cooperation.
Journal of pediatric endocrinology & metabolism : JPEM[Adrenal cortical carcinoma in children: a clinicopathological analysis of 25 cases].
Zhonghua bing li xue za zhi = Chinese journal of pathology[McCune-Albright syndrome: a case report and literature review].
The Pan African medical journalMKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
Journal of endocrinological investigationCase Report: Adrenocortical carcinoma in children-symptoms, diagnosis, and treatment.
Frontiers in endocrinologyHealth supervision for children and adolescents with 16p11.2 deletion syndrome.
Cold Spring Harbor molecular case studiesVan Wyk-Grumbach syndrome: The importance of thyroid function tests in a child presenting with multicystic ovaries.
International journal of surgery case reportsSuccessful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report.
Hormone research in paediatricsA Rare Case of Precocious Puberty Secondary to an LH-secreting Pituitary Adenoma.
JCEM case reportsIntracranial germ cell tumors: a view of the endocrinologist.
Journal of pediatric endocrinology & metabolism : JPEMPineal cysts in children: a paediatric series treated over the last twenty years in Lyon.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCentral precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature.
BMC endocrine disorders[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 CitologiaBrain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?
Annals of pediatric endocrinology & metabolismFamilial 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.
GenesHepatic adenoma in a 7-year-old girl: a case report and literature review.
BMC pediatricsCase Report: Severe McCune-Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles.
Frontiers in endocrinologySecondary Amenorrhea Revealing a Giant Hamartoma of the Tuber Cinereum.
CureusAdvances in hypothalamic hamartoma research over the past 30 years (1992-2021): a bibliometric analysis.
Frontiers in neurologyAuxological and endocrine findings in narcolepsy type 1: seventeen-year follow-up from a pediatric endocrinology center.
Frontiers in endocrinologyRare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
The lancet. Diabetes & endocrinologySyndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan.
Journal of pediatric endocrinology & metabolism : JPEMThe Clinical Septet of Van Wyk-Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India.
TouchREVIEWS in endocrinologyMayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report.
Translational pediatricsBrain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Frontiers in endocrinologyComprehensive analysis of untargeted metabolomics and lipidomics in girls with central precocious puberty.
Frontiers in pediatricsCentral precocious puberty in Prader-Willi syndrome: a narrative review.
Frontiers in endocrinologyMcCune-Albright Syndrome: A Case Report and Review of Literature.
International journal of molecular sciencesPeripheral precocious puberty in Li-Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.
Journal of medical case reportsGenetic variants of G-protein coupled receptors associated with pubertal disorders.
Reproductive medicine and biologyImaging in Van Wyk Grumbach syndrome: An uncommon presentation of hypothyroidism.
SA journal of radiologyAdrenocortical tumors in children: Sri Lankan experience from a single center, and a mini review.
Journal of medical case reportsThe Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Hormone research in paediatricsRepeated recurrence of bilateral gigantomastia after subcutaneous mastectomy caused by tumoral pseudoangiomatous stromal hyperplasia: a case report and review of literature.
BJR case reports[Sex cord tumors with annular tubules: About 4 cases and literature review].
Annales de pathologieVirilization at Puberty: A Rare Cause.
Clinical pediatricsPharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
International journal of molecular sciencesLong-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.
Journal of clinical research in pediatric endocrinologyBrief report: Areolar melanosis in a girl with precocious puberty.
Pediatric dermatologyA 12-Year-Old Girl with Juvenile Granulosa Cell Tumor of the Ovary, Presenting with Adolescent Hyperprolactinemia, Galactorrhea, and Amenorrhea.
The American journal of case reportsPrecocious puberty in a child: A rare cause and review of literature.
Journal of family medicine and primary careClinical and Genetic Characterization of Familial Central Precocious Puberty.
The Journal of clinical endocrinology and metabolismSexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMA new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Journal of endocrinological investigationGonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.
Frontiers in pediatricsPathologic acne in pre-pubertal children: A case series and review on when to refer to pediatric endocrinology.
Pediatric dermatologyAssociations between body mass index and pubertal development based on the outcomes of girls with early breast development.
Frontiers in endocrinologyHuman chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant.
Journal of pediatric endocrinology & metabolism : JPEMOvarian steroid cell tumors, not otherwise specified: analysis of nine cases with a literature review.
BMC endocrine disordersOtalgia revealing McCune-Albright syndrome: A case report.
Annals of medicine and surgery (2012)Current Situation and Demand for Continuing Medical Education (CME) for Obstetricians and Gynecologists.
Journal of multidisciplinary healthcarePrecocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
American journal of medical genetics. Part APrecocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
Journal of the Endocrine SocietyPrecocious puberty in narcolepsy type 1: Orexin loss and/or neuroinflammation, which is to blame?
Sleep medicine reviewsVan Wyk-Grumbach syndrome: a rare presentation of a common endocrine disorder.
Endokrynologia PolskaUpdating the Landscape for Functioning Gonadotroph Tumors.
Medicina (Kaunas, Lithuania)Rapidly Progressive Precocious Puberty With an Elevated Testosterone Level in a 5-Year-Old Boy With a β-Human Chorionic Gonadotropin-Secreting Intracranial Germ Cell Tumor in the Pineal Gland.
AACE clinical case reports[Stereotactic radiosurgery for epilepsy related to hypothalamic hamartoma].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoExaggerated mini-puberty in a preterm girl: a case report and review of literature.
Journal of pediatric endocrinology & metabolism : JPEMGenetic causes of central precocious puberty.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyMKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
Journal of endocrinological investigationOvarian cell tumor in a child with neurofibromatosis type 1.
Annals of African medicineCentral precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.
Annals of pediatric endocrinology & metabolismPituitary Stalk Thickening: Causes and Consequences. The Children's Memorial Health Institute Experience and Literature Review.
Frontiers in endocrinologyPleomorphism 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 : JPEMTransformation of Peripheral Sexual Precocity to Central Sexual Precocity Following Treatment of Granulosa Cell Tumor of the Ovary.
CureusNeuroimaging in 205 consecutive Children Diagnosed with Central Precocious Puberty in Denmark.
Pediatric researchEvaluation of Hypersensitivity Reactions with Leuprolide Acetate and Triptorelin Acetate in Children.
Indian journal of endocrinology and metabolismSyndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) and Precocious Puberty With a Third Ventricle Arachnoid Cyst.
CureusTreatment of congenital adrenal hyperplasia and Klinefelter Syndrome with central precocious puberty: a case report.
Translational pediatricsFeminizing adrenocortical oncocytoma presenting as precocious puberty: a case report and literature review.
Journal of pediatric endocrinology & metabolism : JPEMAdrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Indian journal of pediatricsAdrenocortical adenoma manifesting as Cushing's syndrome and pseudo-precocious puberty in a toddler.
Pediatric endocrinology, diabetes, and metabolismOvarian steroid cell tumor causing isosexual pseudoprecocious puberty in a young girl: an instructive case and literature review.
BMC endocrine disordersLeydig Cell Tumor-Induced Gonadotropin-Independent Precocious Puberty Progressing to Gonadotropin-Dependent Precocious Puberty Post Orchiectomy: Out of the Frying Pan Into the Fire.
CureusGiant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAdrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report.
Annals of pediatric endocrinology & metabolismAssociações
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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.
- Central Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and Treatment.
- Isolated Premature Menarche in a 17-Month-Old: A Case Report.
- Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
- A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
- Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
- 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:650063(Orphanet)
- MONDO:0019165(MONDO)
- Puberdade Precoce Central(PCDT · Ministério da Saúde)
- GARD:16546(GARD (NIH))
- 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
