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.
Introdução
O que você precisa saber de cara
Puberdade precoce em meninas é o desenvolvimento de características sexuais secundárias antes dos 8 anos de idade, como crescimento de mamas e pelos pubianos, e/ou menarca antes dos 10 anos. Pode ser central (por ativação prematura do eixo hipotálamo-hipófise-gonadal) ou periférica (por produção excessiva de hormônios sexuais).
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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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 em indivíduos femininos
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Ensaios clínicos abertos e novidades científicas recentes
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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.
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.
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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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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.
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📚 EuropePMCmostrando 199
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Frontiers in endocrinologyPeutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).
Experimental and therapeutic medicinePathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
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Archivos argentinos de pediatriaA rare case of Ovarian Juvenile Granulosa Cell Tumor in an Infant with Isosexual Pseudo Puberty and a Revision of Literature.
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BMJ case reportsGonadotrophin-independent Precocious Puberty Secondary to an Estrogen Secreting Adrenal Tumor.
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Italian journal of pediatricsMolecular screening of PROKR2 gene in girls with idiopathic central precocious puberty.
Italian journal of pediatricsInsights from the genetic characterization of central precocious puberty associated with multiple anomalies.
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Molecular and cellular endocrinologyRole of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
Hormone research in paediatricsRasmussen's encephalitis and central precocious puberty. Neuroendocrinological characterization of three cases.
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Yonsei medical journalJuvenile Hypothyroidism: A Clinical Perspective from Eastern India.
Indian journal of endocrinology and metabolismA novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.
MedicineVan Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.
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European journal of pediatricsClinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.
Frontiers in pediatricsPediatric pituitary adenoma with mixed FSH and TSH immunostaining and FSH hypersecretion in a 6 year-old girl with precocious puberty: case report and multidisciplinary management.
The International journal of neuroscienceGENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.
European journal of endocrinologyNovel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.
The Journal of clinical endocrinology and metabolismIncidentally detected sellar spine in a patient with Cushing's syndrome: a case report.
The Journal of international medical researchDiagnostic work-up in paediatric and adolescent patients with adnexal masses: an evidence-based approach.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyHypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective.
Neurology IndiaJuvenile Granulosa Cell Tumors of the Ovary.
American journal of clinical pathologyIdentification 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 EndocrinologyTorsion of Granulosa Cell Tumor of the Ovary in a Preschool Patient: A Rare Cause of Acute Abdomen.
The American journal of case reportsPretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study.
The Journal of clinical endocrinology and metabolismMcCune-Albright syndrome and type 1 diabetes mellitus: a novel presentation.
Annals of the New York Academy of SciencesVaginal Bleeding in Pre-pubertal Females.
Journal of pediatric and adolescent gynecologyVan Wyk-Grumbach syndrome in a female pediatric patient with trisomy 21: a case report.
International journal of pediatric endocrinologyThe first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Clinica chimica acta; international journal of clinical chemistryPrecocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.
International journal of pediatric endocrinologyHidradenitis suppurativa in a prepubertal case series: a call for specific guidelines.
Journal of the European Academy of Dermatology and Venereology : JEADVKCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain : a journal of neurologyChildhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
NeuropediatricsLow DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.
Hormone research in paediatricsCraniofacial fibrous dysplasia associated with McCune-Albright syndrome: challenges in diagnosis and treatment: case reports.
BMC oral healthClinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Molecular genetics & genomic medicineAn intriguing case of precocious puberty due to an ovarian mass in an infant.
Pediatric endocrinology, diabetes, and metabolismMcCune Albright syndrome: an endocrine medley.
BMJ case reportsHealth Care Utilization and Economic Burden in Patients with Central Precocious Puberty: An Assessment of the Commercially Insured and Medicaid Populations.
Journal of managed care & specialty pharmacyNovel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Journal of pediatric endocrinology & metabolism : JPEMMaternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
BMJ case reportsGynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome.
Orphanet journal of rare diseasesGrowth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Hormone research in paediatricsA Rare Case of Uterine Torsion With Juvenile Granulosa Cell Tumor in the Pediatric Patient.
UrologyCentral precocious puberty, functional and tumor-related.
Best practice & research. Clinical endocrinology & metabolismHepatic Lesions Associated With McCune Albright Syndrome.
Journal of pediatric gastroenterology and nutritionA 10-Month-Old Infant Presenting With Signs of Precocious Puberty Secondary to a Sclerosing Stromal Tumor of the Ovary in the Absence of Hormonal Elevation.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCytological diagnosis of adrenocortical carcinoma: A report of 2 cases in children.
Diagnostic cytopathologyHistrelin implantation in the pediatric population: A 10-year institutional experience.
Journal of pediatric surgeryCentral Precocious Puberty in a Child With Metachromatic Leukodystrophy.
Frontiers in endocrinologyShort stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome.
BMJ case reports[A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsDoes the risk of arterial hypertension increase in the course of triptorelin treatment?
Journal of pediatric endocrinology & metabolism : JPEMSevere Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome.
Journal of clinical research in pediatric endocrinologyPresentation of central precocious puberty in two patients with Tay-Sachs disease.
Hormones (Athens, Greece)Synchronous Epstein-Barr virus-associated skull base and adrenal smooth-muscle tumors in an 8-year-old girl with recent Epstein-Barr virus infection.
Journal of neurosurgery. PediatricsTwo rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Hormones (Athens, Greece)Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.
Indian journal of pediatricsCentral Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.
NeuroendocrinologyChromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
The Journal of clinical endocrinology and metabolismRhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis.
International journal of environmental research and public healthVan Wyk-Grumbach syndrome: A rare cause of precocious puberty.
Presse medicale (Paris, France : 1983)[Granulosa cell ovarian tumor: precocious puberty in infant less than 1 year of age. Case report].
Revista chilena de pediatria[Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia].
Annales de dermatologie et de venereologieSecondary aneurysmal bone cyst in McCune-Albright syndrome.
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesChildren with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Italian journal of pediatricsAcute abdomen with a misleading clinical entity.
SAGE open medical case reportsClinicopathological pattern and outcome of pediatric malignant ovarian germ cell tumors: South Egypt Cancer Institute experience.
Journal of pediatric surgeryPrevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.
Orphanet journal of rare diseasesMazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.
Acta bio-medica : Atenei ParmensisMolecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.
Hormone research in paediatricsTemple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genetics in medicine : official journal of the American College of Medical GeneticsGrowth hormone excess in children with neurofibromatosis type-1 and optic glioma.
American journal of medical genetics. Part AVan Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.
European thyroid journalHypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.
EpilepsiaCentral Precocious Puberty Secondary to Adrenocortical Adenoma in a Female Child: Case Report and Review of the Literature.
Journal of pediatric and adolescent gynecology[A very rare cause of peripheral precocious puberty in a girl: ovarian sex cord tumor with annular tubules].
Archivos argentinos de pediatriaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Isolated Premature Menarche in a 17-Month-Old: A Case Report.
- 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.
- Three cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.
- 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· 2026· PMID 41617645mais citado
- The incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases.
- 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.
- Sterile Abscess Following Intramuscular Leuprolide Acetate Injection for Endometriosis: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:435561(Orphanet)
- MONDO:0018561(MONDO)
- GARD:21807(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788177(Wikidata)
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
