Raras
Buscar doenças, sintomas, genes...
Puberdade precoce em indivíduos femininos
ORPHA:435561DOENÇA 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 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).

🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa9
Últimos 10 anos200publicações
Pico202537 papers
Linha do tempo
20202017Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Puberdade precoce em indivíduos femininos

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Isolated Premature Menarche in a 17-Month-Old: A Case Report.

The American journal of case reports2026 Mar 23

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.

#2

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.

#3

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

Frontiers in endocrinology2026

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.

#4

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

AME case reports2026

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.

#5

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 Society2026 Jan 30

Sex cord-stromal tumours (SCSTs) in children are rare gonadal neoplasms exhibiting differentiation towards sex cord stromal elements. This case series explores paediatric SCSTs, presenting clinical, gross, histologic, and immunohistochemical findings, with a focus on limited information available about these tumours in African children. This retrospective study includes 9 cases of ovarian and testicular SCSTs (8 female and 1 male) in patients below 16 years of age. Female patients presented with various SCST subtypes, including juvenile granulosa cell tumours (JGCTs), fibroma, and mixed tumours. Precocious puberty was a common presentation. The male patient had a Leydig cell tumour. Tumour sizes varied, with the smallest in the testis and the largest in a 3-year-old girl. Histologically, most cases exhibited characteristic features of their respective subtypes. Paediatric SCSTs are rare but important considerations in children with gonadal masses. Their incidence in African children is largely unknown. JGCTs are the most prevalent ovarian subtype. Leydig cell tumours are rare in children and can present with virilisation. Mixed SCST-germ cell tumours, though extremely rare, warrant careful consideration and immunohistochemistry for accurate diagnosis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Isolated Premature Menarche in a 17-Month-Old: A Case Report.

The American journal of case reports
2026

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

Hormone research in paediatrics
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

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

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

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

Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights from a Korean Series.

Journal of movement disorders
2025

Pediatric Adrenocortical Carcinoma Presenting With Virilization: A Case of a Low-Grade Tumor in a Young Child.

Cureus
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
2026

Sterile Abscess Following Intramuscular Leuprolide Acetate Injection for Endometriosis: A Case Report.

Journal of pediatric and adolescent gynecology
2025

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

Cureus
2026

MECP2 Rare Variants in Boys With Central Precocious Puberty.

The Journal of clinical endocrinology and metabolism
2025

Van Wyk-Grumbach syndrome: a case report and review of the literature.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2026

Bridging the Gap between Hypothyroidism and Precocious Puberty: A Case Report of Van Wyk Grumbach Syndrome.

Journal of pediatric and adolescent gynecology
2025

McCune-Albright syndrome with multiple hyperfunctional endocrinopathies: diagnosis, treatment, and long-term follow-up: a case report.

Frontiers in endocrinology
2025

Severe, prolonged primary hypothyroidism causing ovarian hyperstimulation: an adult presentation (Van Wyk-Grumbach syndrome).

BMJ case reports
2025

Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.

Cardiovascular endocrinology & metabolism
2025

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Journal of investigative medicine high impact case reports
2025

Hormone-active ovarian steroid cell tumor in a 2-year-old girl.

Journal of pediatric endocrinology & metabolism : JPEM
2025

Ovarian serous cystadenoma mimicking polycystic ovarian morphology in prepubertal girl: a case report and literature review.

Ginekologia polska
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

Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.

Medicine
2025

Thyroid Scan Conundrum in a Rare Case of McCune-Albright Syndrome.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
2025

[Precocious puberty in the McCune-Albright Syndrome: a case report].

The Pan African medical journal
2025

Uterine Venous Malformation as a Rare Cause of Prepubertal Vaginal Bleeding.

Pediatrics
2025

Central Precocious Puberty and Psychiatric Disorders.

JAMA network open
2025

Juvenile Fibroadenoma in a Prepubertal Girl With Idiopathic Precocious Puberty: A Case Report Challenging Hormonal Paradigms.

Cureus
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 & metabolism : JPEM
2025

Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.

Archives of endocrinology and metabolism
2025

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

PloS one
2025

A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.

Brain & development
2024

Van Wyk-Grumbach syndrome and its clinical heterogeneity: A case report.

Bioinformation
2025

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

Frontiers in endocrinology
2025

Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

Nongestational Ovarian Choriocarcinoma with Precocious Puberty in a 7-Year-Old Girl: A Rare Case Report.

Journal of pediatric and adolescent gynecology
2025

Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.

JCEM case reports
2025

A Case of McCune Albright Syndrome With Rare Extensive Polyostotic Fibrous Dysplasia.

Clinical nuclear medicine
2025

Clinical utility of ultrasonography in pediatric and adolescent gynecology: retrospective review of 1313 ultrasound examinations.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

A Rare Case of Juvenile Granulosa Cell Tumor in a Premenarchal Female: Clinical Presentation, Diagnosis, and Management.

Cureus
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

Central precocious puberty in a toddler with hypothalamic hamartoma.

Journal of pediatric endocrinology & metabolism : JPEM
2025

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

The Journal of clinical endocrinology and metabolism
2025

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Clinical genetics
2024

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

Frontiers in endocrinology
2024

Endocrine disorders in Rett syndrome: a systematic review of the literature.

Frontiers in endocrinology
2025

Peripheral precocious puberty secondary to severe hypothyroidism.

Archivos argentinos de pediatria
2026

The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.

Hormone research in paediatrics
2025

Revising LH cut-off for the diagnosis of central precocious puberty via triptorelin stimulation assay.

Endocrine
2024

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care.

Cureus
2024

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

Cytogenetic and genome research
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

A Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report.

Journal of pediatric and adolescent gynecology
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

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

Nature genetics
2024

A pediatric case of two Nicolau syndrome lesions following leuprolide injection in the upper extremity.

Indian journal of pharmacology
2024

Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.

Frontiers in endocrinology
2024

Isolated Vaginal Bleeding Before the Onset of Puberty.

Endocrinology and metabolism clinics of North America
2024

Females with Breast Development before Three Years of Age.

Endocrinology and metabolism clinics of North America
2025

Diagnostic 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 paediatrics
2024

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

Orphanet journal of rare diseases
2024

Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.

European journal of endocrinology
2024

Vaginal 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 reports
2024

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.

Endocrine
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 & cancer
2026

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.

Journal of clinical research in pediatric endocrinology
2024

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

Zhonghua bing li xue za zhi = Chinese journal of pathology
2023

[McCune-Albright syndrome: a case report and literature review].

The Pan African medical journal
2024

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Journal of endocrinological investigation
2023

Case Report: Adrenocortical carcinoma in children-symptoms, diagnosis, and treatment.

Frontiers in endocrinology
2023

Brain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?

Annals of pediatric endocrinology & metabolism
2023

Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.

European journal of endocrinology
2023

Hepatic adenoma in a 7-year-old girl: a case report and literature review.

BMC pediatrics
2023

Case Report: Severe McCune-Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles.

Frontiers in endocrinology
2023

Auxological and endocrine findings in narcolepsy type 1: seventeen-year follow-up from a pediatric endocrinology center.

Frontiers in endocrinology
2023

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.

The lancet. Diabetes & endocrinology
2023

The Clinical Septet of Van Wyk-Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India.

TouchREVIEWS in endocrinology
2023

Mayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report.

Translational pediatrics
2023

Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.

Frontiers in endocrinology
2023

Comprehensive analysis of untargeted metabolomics and lipidomics in girls with central precocious puberty.

Frontiers in pediatrics
2023

McCune-Albright Syndrome: A Case Report and Review of Literature.

International journal of molecular sciences
2023

Adrenocortical tumors in children: Sri Lankan experience from a single center, and a mini review.

Journal of medical case reports
2023

[Sex cord tumors with annular tubules: About 4 cases and literature review].

Annales de pathologie
2023

Virilization at Puberty: A Rare Cause.

Clinical pediatrics
2024

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.

Journal of clinical research in pediatric endocrinology
2023

Brief report: Areolar melanosis in a girl with precocious puberty.

Pediatric dermatology
2023

A 12-Year-Old Girl with Juvenile Granulosa Cell Tumor of the Ovary, Presenting with Adolescent Hyperprolactinemia, Galactorrhea, and Amenorrhea.

The American journal of case reports
2023

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.

Journal of endocrinological investigation
2022

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.

Frontiers in pediatrics
2022

Associations between body mass index and pubertal development based on the outcomes of girls with early breast development.

Frontiers in endocrinology
2023

Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant.

Journal of pediatric endocrinology & metabolism : JPEM
2022

Ovarian steroid cell tumors, not otherwise specified: analysis of nine cases with a literature review.

BMC endocrine disorders
2023

Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.

American journal of medical genetics. Part A
2022

Van Wyk-Grumbach syndrome: a rare presentation of a common endocrine disorder.

Endokrynologia Polska
2022

Updating the Landscape for Functioning Gonadotroph Tumors.

Medicina (Kaunas, Lithuania)
2022

Exaggerated mini-puberty in a preterm girl: a case report and review of literature.

Journal of pediatric endocrinology & metabolism : JPEM
2022

Ovarian cell tumor in a child with neurofibromatosis type 1.

Annals of African medicine
2023

Neuroimaging in 205 consecutive Children Diagnosed with Central Precocious Puberty in Denmark.

Pediatric research
2022

Feminizing adrenocortical oncocytoma presenting as precocious puberty: a case report and literature review.

Journal of pediatric endocrinology & metabolism : JPEM
2022

Ovarian steroid cell tumor causing isosexual pseudoprecocious puberty in a young girl: an instructive case and literature review.

BMC endocrine disorders
2023

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Annals of pediatric endocrinology & metabolism
2021

Feminizing adrenocortical adenoma in a girl from a resource-limited setting: a case report.

Journal of medical case reports
2022

Extent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.

Calcified tissue international
2021

A case report of precocious puberty related to Rett syndrome and a literature review.

Die Pharmazie
2021

Clinical Characteristics and Management of Patients With McCune-Albright Syndrome With GH Excess and Precocious Puberty: A Case Series and Literature Review.

Frontiers in endocrinology
2021

Case Report: Lipoma of the Tuber Cinereum Mimicking a Pituitary Gland Abnormality in a Girl With Central Precocious Puberty.

Frontiers in endocrinology
2021

Peutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).

Experimental and therapeutic medicine
2021

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Frontiers in endocrinology
2021

McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.

Archivos argentinos de pediatria
2021

A rare case of Ovarian Juvenile Granulosa Cell Tumor in an Infant with Isosexual Pseudo Puberty and a Revision of Literature.

Acta bio-medica : Atenei Parmensis
2021

Management of Central Precocious Puberty in Children with Hypothalamic Hamartoma.

Children (Basel, Switzerland)
2021

Coincidence of juvenile granulosa cell tumor and serous cystadenoma in a pediatric patient: Case report and literature review.

Radiology case reports
2021

Juvenile granulosa cell tumor diagnosed in 6-month-old infant with precocious puberty.

Radiology case reports
2021

McCune-Albright syndrome onset with vaginal bleeding.

BMJ case reports
2021

Breast development in a 7 year old girl with CF treated with ivacaftor: An indication for personalized dosing?

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
2021

Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature.

Frontiers in endocrinology
2021

Central precocious puberty after resection of a virilising adrenocortical oncocytic tumour.

BMJ case reports
2022

Gonadotrophin-independent Precocious Puberty Secondary to an Estrogen Secreting Adrenal Tumor.

Journal of pediatric hematology/oncology
2021

Squamous Cell Carcinoma of the Lung in McCune-Albright Syndrome.

Cureus
2022

Precocious sexual maturation: Unravelling the mechanisms of pubertal onset through clinical observations.

Journal of neuroendocrinology
2021

Estrogen-secreting adrenocortical tumor in a postmenopausal woman: a challenging diagnosis.

Endocrinology, diabetes & metabolism case reports
2021

Juvenile granulosa cell tumor of the ovary: A comprehensive clinicopathologic analysis of 15 cases.

Annals of diagnostic pathology
2020

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.

The Pan African medical journal
2021

Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

Italian journal of pediatrics
2021

Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty.

Italian journal of pediatrics
2021

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

Human reproduction (Oxford, England)
2021

Hypothalamo-Pituitary axis and puberty.

Molecular and cellular endocrinology
2020

Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.

Hormone research in paediatrics
2020

Rasmussen's encephalitis and central precocious puberty. Neuroendocrinological characterization of three cases.

Seizure
2020

The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.

Yonsei medical journal
2020

Juvenile Hypothyroidism: A Clinical Perspective from Eastern India.

Indian journal of endocrinology and metabolism
2020

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Medicine
2020

Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.

Journal of medical case reports
2021

Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease.

European journal of pediatrics
2020

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.

Frontiers in pediatrics
2022

Pediatric 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 neuroscience
2020

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

European journal of endocrinology
2020

Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.

The Journal of clinical endocrinology and metabolism
2020

Incidentally detected sellar spine in a patient with Cushing's syndrome: a case report.

The Journal of international medical research
2021

Diagnostic 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 Gynaecology
2020

Hypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective.

Neurology India
2020

Juvenile Granulosa Cell Tumors of the Ovary.

American journal of clinical pathology
2020

Identification 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 Endocrinology
2020

Torsion of Granulosa Cell Tumor of the Ovary in a Preschool Patient: A Rare Cause of Acute Abdomen.

The American journal of case reports
2020

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study.

The Journal of clinical endocrinology and metabolism
2020

McCune-Albright syndrome and type 1 diabetes mellitus: a novel presentation.

Annals of the New York Academy of Sciences
2020

Vaginal Bleeding in Pre-pubertal Females.

Journal of pediatric and adolescent gynecology
2020

Van Wyk-Grumbach syndrome in a female pediatric patient with trisomy 21: a case report.

International journal of pediatric endocrinology
2020

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.

Clinica chimica acta; international journal of clinical chemistry
2019

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.

International journal of pediatric endocrinology
2019

Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines.

Journal of the European Academy of Dermatology and Venereology : JEADV
2019

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Brain : a journal of neurology
2020

Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

Neuropediatrics
2019

Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.

Hormone research in paediatrics
2019

Craniofacial fibrous dysplasia associated with McCune-Albright syndrome: challenges in diagnosis and treatment: case reports.

BMC oral health
2019

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Molecular genetics & genomic medicine
2019

An intriguing case of precocious puberty due to an ovarian mass in an infant.

Pediatric endocrinology, diabetes, and metabolism
2019

McCune Albright syndrome: an endocrine medley.

BMJ case reports
2019

Health 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 pharmacy
2019

Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.

Journal of pediatric endocrinology & metabolism : JPEM
2019

Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.

BMJ case reports
2019

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome.

Orphanet journal of rare diseases
2018

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Hormone research in paediatrics
2019

A Rare Case of Uterine Torsion With Juvenile Granulosa Cell Tumor in the Pediatric Patient.

Urology
2019

Central precocious puberty, functional and tumor-related.

Best practice & research. Clinical endocrinology & metabolism
2019

Hepatic Lesions Associated With McCune Albright Syndrome.

Journal of pediatric gastroenterology and nutrition
2019

A 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 Society
2018

Cytological diagnosis of adrenocortical carcinoma: A report of 2 cases in children.

Diagnostic cytopathology
2019

Histrelin implantation in the pediatric population: A 10-year institutional experience.

Journal of pediatric surgery
2018

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy.

Frontiers in endocrinology
2018

Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome.

BMJ case reports
2018

[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 pediatrics
2020

Does the risk of arterial hypertension increase in the course of triptorelin treatment?

Journal of pediatric endocrinology & metabolism : JPEM
2019

Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome.

Journal of clinical research in pediatric endocrinology
2018

Presentation of central precocious puberty in two patients with Tay-Sachs disease.

Hormones (Athens, Greece)
2018

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. Pediatrics
2018

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.

Hormones (Athens, Greece)
2018

Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.

Indian journal of pediatrics
2018

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Neuroendocrinology
2018

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

The Journal of clinical endocrinology and metabolism
2018

Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis.

International journal of environmental research and public health
2018

Van Wyk-Grumbach syndrome: A rare cause of precocious puberty.

Presse medicale (Paris, France : 1983)
2017

[Granulosa cell ovarian tumor: precocious puberty in infant less than 1 year of age. Case report].

Revista chilena de pediatria
2018

[Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia].

Annales de dermatologie et de venereologie
2017

Secondary 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 Diseases
2018

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Italian journal of pediatrics
2017

Acute abdomen with a misleading clinical entity.

SAGE open medical case reports
2018

Clinicopathological pattern and outcome of pediatric malignant ovarian germ cell tumors: South Egypt Cancer Institute experience.

Journal of pediatric surgery
2017

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

Orphanet journal of rare diseases
2017

Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

Acta bio-medica : Atenei Parmensis
2017

Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.

Hormone research in paediatrics
2017

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genetics in medicine : official journal of the American College of Medical Genetics
2017

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

American journal of medical genetics. Part A
2017

Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.

European thyroid journal
2017

Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.

Epilepsia
2017

Central Precocious Puberty Secondary to Adrenocortical Adenoma in a Female Child: Case Report and Review of the Literature.

Journal of pediatric and adolescent gynecology
2017

[A very rare cause of peripheral precocious puberty in a girl: ovarian sex cord tumor with annular tubules].

Archivos argentinos de pediatria

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Puberdade precoce em indivíduos femininos.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Puberdade precoce em indivíduos femininos

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Isolated Premature Menarche in a 17-Month-Old: A Case Report.
    The American journal of case reports· 2026· PMID 41871008mais citado
  2. A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.
    Hormone research in paediatrics· 2026· PMID 41861056mais citado
  3. Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
    Frontiers in endocrinology· 2026· PMID 41727682mais citado
  4. Three cases of pediatric adrenocortical carcinoma with intermediate malignant potential: a case report with literature review.
    AME case reports· 2026· PMID 41676208mais citado
  5. 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
  6. The incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases.
    J Pediatr Endocrinol Metab· 2026· PMID 41432272recente
  7. 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 Pediatr· 2025· PMID 41339811recente
  8. Sterile Abscess Following Intramuscular Leuprolide Acetate Injection for Endometriosis: A Case Report.
    J Pediatr Adolesc Gynecol· 2026· PMID 41260291recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:435561(Orphanet)
  2. MONDO:0018561(MONDO)
  3. GARD:21807(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Puberdade precoce em indivíduos femininos
Compêndio · Raras BR

Puberdade precoce em indivíduos femininos

ORPHA:435561 · MONDO:0018561
UMLS
C0271616
Repurposing
1 candidato
triptorelingonadotropin releasing factor hormone receptor agonist
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades