Introdução
O que você precisa saber de cara
Apoplexia hipofisária é o sangramento ou suprimento sanguíneo comprometido da glândula hipófise. Isso geralmente ocorre na presença de um tumor da hipófise, embora em 80% dos casos este não tenha sido diagnosticado previamente. O sintoma inicial mais comum é uma dor de cabeça súbita, frequentemente associada a um defeito do campo visual que piora rapidamente ou visão dupla, causada pela compressão dos nervos que circundam a glândula. Isso é frequentemente seguido por sintomas agudos causados pela falta de secreção de hormônios essenciais, predominantemente insuficiência adrenal.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 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
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 — Deficiência pituitária por cistos da bolsa de Rathke
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Pituitary Imaging: Indications and Outcomes From a Tertiary Pediatric Center in the United Arab Emirates.
The pituitary gland plays a critical role in regulating endocrine function, with disorders manifesting as diverse clinical and laboratory abnormalities. Magnetic resonance imaging (MRI) of the Sella turcica provides a detailed anatomical evaluation, supporting the diagnosis of pituitary pathologies, particularly growth hormone deficiency (GHD) and precocious puberty (PP). To describe the clinical, laboratory, and MRI characteristics of pediatric patients undergoing pituitary MRI at a tertiary pediatric center in the United Arab Emirates, and to estimate the diagnostic yield of MRI, defined as the frequency and pattern of structural pituitary abnormalities, across major endocrine indications. We conducted a retrospective review of 205 pediatric patients who underwent MRI Sella at Al Jalila Children's Hospital, a major tertiary/quaternary pediatric hospital in Dubai, UAE, between January 2023 and June 2024. Data collected included demographics, auxological measurements (height, weight, BMI, bone age), laboratory results, and imaging findings. The cohort comprised 205 patients (130 (63.4%) male, mean age 10.0 years). Suspected GHD was the most common indication for MRI (165 patients, 80%), with 116 (56.5%) later confirmed. Pituitary hypoplasia was observed in 63 (54%) patients with GHD, while pituitary hyperplasia was noted in 5 (30%) cases of PP. Lesions such as Rathke's cleft cysts (9, 4.4%) and interrupted pituitary stalk (5, 2.4%) were identified, predominantly in patients with GHD. MRI sella provides anatomical characterization of the pituitary gland in children undergoing endocrine evaluation and demonstrates a range of structural findings, particularly among those with confirmed GHD. A comprehensive diagnostic approach combining imaging, auxological, and biochemical data enhances diagnostic accuracy.
Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.
The 48,XXYY syndrome is a rare sex chromosome aneuploidy associated with diverse physical, developmental, and endocrine abnormalities. This case report highlights a 15-year-old male with 48,XXYY syndrome presenting with hypopituitarism and a Rathke's cleft cyst, offering insights into the interplay between genetic syndromes and pituitary dysfunction. The patient exhibited hyperprolactinemia, central hypothyroidism, central hypoadrenalism, and elevated gonadotropin levels. Brain magnetic resonance imaging revealed a cystic lesion within the sella turcica, consistent with a Rathke's cleft cyst. The patient also had autism and severe essential tremor. Physical examination revealed a reduced testicular volume without gynecomastia, and genetic analysis confirmed a 48,XXYY karyotype. Hormone replacement therapy with prednisone and levothyroxine was initiated, resulting in adequate hormonal replacement. Follow-up magnetic resonance imaging demonstrated stability of the pituitary cyst, with no evidence of progression. This case highlights the importance of hormonal evaluation in patients with rare sex chromosome aneuploidies. Routine pituitary hormone evaluation and imaging should be integral to the care of individuals with 48,XXYY syndrome. These findings highlight the value of a multidisciplinary approach that integrates endocrinology, genetics, and neurology to address the complex needs of these patients. The association between 48,XXYY syndrome and Rathke's cleft cyst raises intriguing questions about the potential links between sex chromosome aneuploidies and pituitary abnormalities. This report emphasizes the need for comprehensive endocrine and structural assessments to optimize patient outcomes by contributing to the limited literature on 48,XXYY syndrome.
Determinants of QTc Interval Prolongation in Patients with Hypopituitarism and Other Pituitary Disorders.
Background: Long QT syndrome (LQTS) is characterized by delayed myocardial repolarization, predisposing to malignant arrhythmias such as torsades de pointes, ventricular fibrillation, and cardiac arrest. Recent reports suggest that acquired LQTS (aLQTS) may represent an early manifestation of hypopituitarism, potentially contributing to its increased cardiovascular mortality, although evidence remains limited to 16 published case reports. Objective: The objective was to investigate the relationship between hypopituitarism and corrected QT (QTc) interval. Methods: We retrospectively analyzed data from 185 patients (121 males) with hypothalamic-pituitary disorders who underwent a 12-lead electrocardiogram between April 2023 and September 2024. Clinical characteristics, hormone replacement therapy, and same-day laboratory parameters (electrolytes, fT3, fT4, IGF-I, testosterone) were recorded. QTc was calculated using Bazett's formula. Multivariate logistic regression identified predictors of QTc prolongation. Results: Age (OR 1.07-1.09, p = 0.02) was a significant predictor in 5 of 8 models. The presence of expansive lesions other than pituitary adenomas, craniopharyngiomas, and Rathke's cleft cysts was also associated with QTc prolongation (OR 8.35-17.73, p < 0.05 and p = 0.03). Potassium (OR 0.14-0.17, p = 0.09) and albumin-corrected calcium levels (OR 0.0003, p = 0.06) showed consistent, though borderline, associations. Conclusions: Age and the presence of expansive lesions other than pituitary adenomas, craniopharyngiomas, and Rathke's cleft cysts are the main predictors of QTc duration in patients with hypothalamic-pituitary disease. Electrolyte imbalances-particularly low potassium and albumin-corrected calcium-may further contribute. The influence of specific pituitary deficiencies remains uncertain, likely due to adequate replacement therapy in most patients.
The clinical picture of symptomatic Rathke cleft cysts in children.
Rathke cleft cysts (RCC) in childhood are rare, often asymptomatic, and thus discovered incidentally. We aimed to summarize clinical features and pituitary function of patients with symptomatic RCC. This retrospective study included 14 patients (8 male) from the university hospital's database (period 2005-2023). RCC diagnosis based on magnetic resonance imaging at 12.2 (1.8-17.6) years. Presenting symptoms were headaches (n=8), occurring alone (n=1) or with nausea/fatigue (n=2), polydipsia (n=2), or dizziness (n=3), followed by growth retardation (n=5), occurring alone (n=4) or with polydipsia (n=1). Two patients exhibited visual disturbances. Endocrinological evaluation revealed pituitary insufficiency in 10, including isolated or combined growth hormone (GH) deficiency (n=5), arginine-vasopressin deficiency (AVP-D; n=5), central hypothyroidism (n=2), and hypocortisolism (n=2). Three patients had hyperprolactinemia. Nine patients were monitored by regular imaging; five underwent surgery. In the observation group, cyst size remained unchanged in seven and decreased in two patients, while it increased in four patients treated surgically. At last presentation after 6.4 (0.33-14.8) years of follow-up, the endocrine status of the conservatively followed patients was normal in n=6, and pathological in n=3. Pituitary function did not normalize after surgery. Five patients developed hypogonadotropic hypogonadism, including two children who were followed conservatively. We found a high incidence of pituitary insufficiency among symptomatic pediatric RCC patients. Pituitary function was not closely related to cyst size or location and did not improve after surgery. Regular clinical and radiological follow-up is mandatory for both conservatively and surgically treated patients.
The endocrine spectrum of Rathke cleft cysts.
Rathke cleft cysts (RCCs) are rare non-neoplastic lesions of the pituitary gland. Usually, these cysts are small and remain asymptomatic clinically. For unknown reasons, in some cases, RCCs enlarge and cause symptoms such as headaches, visual disturbances, and pituitary gland dysfunctions. The literature lacks comprehensive reviews or guidelines that summarize clinicians' knowledge about hormonal assessment in symptomatic cases. We present a review of the literature focused on symptomatic cases of RCCs, manifesting with hormonal imbalance. Hormonal symptoms occur in 19.4-81% of symptomatic cases. The most common hormonal dysfunction is hyperprolactinemia, found in even 46% of cases, and the second most frequent is hypogonadism. The improvement after surgery is hesitant, between 19% and 67.8%, and is the worst in secondary hypothyroidism. In the pediatric patient group, hormonal dysfunctions are the most common presentation of such a lesion. Dysfunction of the posterior pituitary gland in the course of symptomatic RCCs can result in treatment-resistant arginine vasopressin deficiency and syndrome of inappropriate antidiuretic hormone secretion. It should be emphasized that among the endocrine disorders of RCCs in young premenopausal women, menstrual disorders and related fertility problems are prevalent. Irregular menstrual cycles or amenorrhea are reported in up to 17% of symptomatic RCCs. Endocrinologists and neurosurgeons must be acutely aware of hormonal imbalances in RCCs and conduct hormonal evaluations in every case of symptomatic RCC to enhance the management of these lesions. Guidelines for managing symptomatic cases of RCC are necessary to improve patient care and outcomes.
Publicações recentes
Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.
The clinical picture of symptomatic Rathke cleft cysts in children.
The endocrine spectrum of Rathke cleft cysts.
Impact of sella floor reconstruction on Rathke Cleft Cyst recurrence: a systematic review and meta-analysis.
Recovery of pituitary function in patients with apoplexy immediately after surgical resection of necrotic tumors.
📚 EuropePMCmostrando 91
Pituitary Imaging: Indications and Outcomes From a Tertiary Pediatric Center in the United Arab Emirates.
CureusHypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.
Einstein (Sao Paulo, Brazil)Determinants of QTc Interval Prolongation in Patients with Hypopituitarism and Other Pituitary Disorders.
BiomedicinesThe clinical picture of symptomatic Rathke cleft cysts in children.
Journal of pediatric endocrinology & metabolism : JPEMThe endocrine spectrum of Rathke cleft cysts.
Frontiers in endocrinologyRecovery of Pituitary and Visual Function After Rathke's Cleft Cyst Decompression: An 80-case Institutional Experience.
Journal of the Endocrine SocietyReduced IGF-1 Levels Following Clomiphene Treatment for Male Hypogonadism.
Journal of the Endocrine SocietyImpact of sella floor reconstruction on Rathke Cleft Cyst recurrence: a systematic review and meta-analysis.
PituitaryRecovery of pituitary function in patients with apoplexy immediately after surgical resection of necrotic tumors.
EndocrineA Data-Driven Approach for Rathke's Cleft Cysts Management.
Diagnostics (Basel, Switzerland)Rathke's cleft cyst: From history to molecular genetics.
Reviews in endocrine & metabolic disordersSurgical Strategies Regarding the Extended Endoscopic Transnasal Approach for Isolated Suprasellar Rathke's Cleft Cysts.
World neurosurgeryIntra-Infundibular Epidermoid Cysts: A Distinct and Rare Entity.
World neurosurgeryRathke cleft cyst with squamous metaplasia and activating mutations of mitogen-activated protein kinase signaling: illustrative case.
Journal of neurosurgery. Case lessonsInflammation of adenohypophysis is commonly associated with headache in surgically managed Rathke's cleft cysts.
PituitaryRathke's cleft cysts: from pathophysiology to management.
Neurosurgical reviewComparison of clinical and radiological characteristics of inflammatory and non-inflammatory Rathke cleft cysts.
Japanese journal of radiologyEndoscopic endonasal resection of Rathke cleft cysts: a single-institution analysis of 148 consecutive patients.
Journal of neurosurgeryEndoscopic endonasal resection of symptomatic Rathke's cleft cysts: outcomes of the strategy to maintain the fenestration open.
Neurosurgical reviewSecondary vs. primary pituitary xanthogranulomas: which yellow is more mellow?
Endocrine journalEndoscopic endonasal surgery of Rathke's cleft cysts-- preoperative imaging evaluation, personalized removal and multilevel sellar floor reconstruction.
Clinical neurology and neurosurgeryRathke's cleft cyst discovered with ruptured anterior communicating artery aneurysm: a case report.
Journal of medical case reportsNuclear translocation of beta catenin in patients with Rathke cleft cysts-clinical and imaging characteristics and risk of recurrence.
Acta neurochirurgicaRathke's cleft cyst classification and outcomes after endoscopic endonasal approach.
Clinical neurology and neurosurgeryClinical features and surgical outcomes of Rathke cleft cysts with suprasellar components: a single-center experience of 157 cases.
Acta neurochirurgicaA Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused By a Giant Arachnoid Cyst.
Journal of clinical research in pediatric endocrinologyRathke's Cleft Cyst Abscess with a Very Unusual Course.
Asian journal of neurosurgeryThe evolution of pituitary cysts in growth hormone-treated children.
Journal of pediatric endocrinology & metabolism : JPEMNatural course of Rathke's cleft cysts and risk factors for progression.
Journal of neurosurgeryTrans-eyebrow supraorbital keyhole approach for suprasellar and intra-suprasellar Rathke cleft cysts: the experience of 16 cases and a literature review.
British journal of neurosurgeryAnalysis of the Clinical Characteristics and Pituitary Function of Patients in Central China With Rathke's Cleft Cysts.
Frontiers in endocrinologyEndoscopic Treatment of Sellar Arachnoid Cysts via a Simple Cyst-Opening Technique: Long-Term Outcomes From a Single Center.
World neurosurgeryLong-Term Outcomes of Endoscopic Cyst Fenestration for Rathke Cleft Cyst.
World neurosurgeryThe clinical course of Rathke's cleft cysts in pediatric patients: impact on growth and pubertal development.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyPresenting symptoms and endocrine dysfunction in Rathke cleft cysts - a two-centre experience.
Endokrynologia PolskaA study on clinical outcomes of Rathke's cleft cyst in patients managed conservatively.
PituitaryNatural history and surgical outcome of Rathke's cleft cysts-A study from the Swedish Pituitary Registry.
Clinical endocrinologySpontaneous involution of a Rathke cleft cyst.
Annales d'endocrinologieEndoscopic Endonasal Resection of Symptomatic Rathke Cleft Cysts: Total Resection or Partial Resection.
Frontiers in neurologyIncidental Pituitary Cysts in Children: Does Growth Hormone Treatment Affect Cyst Size?
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsAnterior pituitary function in Rathke's cleft cysts versus nonfunctioning pituitary adenomas.
Endocrine journalA survey of surgically resected pituitary incidentalomas and a comparison of the clinical features and surgical outcomes of non-functioning pituitary adenomas discovered incidentally versus symptomatically.
Endocrine journalSafety and Effectiveness of the Direct Endoscopic Endonasal Approach for Primary Sellar Pathology: A Contemporary Case Series of More Than 400 Patients.
World neurosurgerySurgery versus conservative care for Rathke's cleft cyst.
Neuro-ChirurgieRathke's cleft cyst infections and pituitary abscesses: case series and review of the literature.
Pituitary[Rathke's cleft cyst in a middle-aged man with chief complaint of depression : A case report and literature review].
Zhonghua nan ke xue = National journal of andrologyTwo cases of symptomatic secondary hypophysitis due to Rathke's cleft cysts treated with glucocorticoids: long-term follow-up.
Endocrine journalSecondary pituitary hormonal dysfunction patterns: tumor size and subtype matter.
PituitaryOutcome of nonneoplastic pituitary cysts during conservative monitoring and after surgery-a SwissPit study.
Acta neurochirurgicaRathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors.
The Journal of clinical investigationPrevalence and characteristics of sellar masses in the city of Al Ain, United Arab Emirates: 2010 to 2016.
Annals of Saudi medicineRathke Cleft Cysts with Apoplexy-Like Symptoms: Clinicoradiologic Comparisons with Pituitary Adenomas with Apoplexy.
World neurosurgeryEndonasal Endoscopic Surgery for Pediatric Sellar and Suprasellar Lesions: A Systematic Review and Meta-analysis.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryDiagnosis and Treatment of Parasellar Lesions.
NeuroendocrinologyProton Magnetic Resonance Spectroscopy Characterization of Rathke's Cleft Cysts (RCCs): Relevance to the Differential Diagnosis of Pituitary Adenomas and RCCs.
CancersSellar surprises: a single-centre experience of unusual sellar masses.
Endocrine connectionsClinical investigation of pituitary incidentalomas: A two-center study.
Intractable & rare diseases researchImaging findings in hypophysitis: a review.
La Radiologia medicaCystic sellar salivary gland-like lesions.
Clinical neuropathologyMalignant Craniopharyngioma: A Report of Seven Cases and Review of the Literature.
World neurosurgeryPrimary pituitary abscess case series and a review of the literature.
Neuro endocrinology lettersDifferential Clinical Presentation, Intraoperative Management Strategies, and Surgical Outcomes After Endoscopic Endonasal Treatment of Cystic Sellar Masses.
World neurosurgeryHemorrhagic Presentation of Rathke Cleft Cysts: A Surgical Case Series.
Operative neurosurgery (Hagerstown, Md.)Clinicopathologic Characteristics and Endoscopic Surgical Outcomes of Symptomatic Rathke's Cleft Cysts.
World neurosurgery[A Surgical Case of Aseptic Meningitis and Secondary Hypophysitis due to Rupture of a Rathke's Cleft Cyst].
No shinkei geka. Neurological surgeryOutcomes following endoscopic endonasal resection of sellar and supresellar lesions in pediatric patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEntirely Suprasellar Rathke Cleft Cysts: Clinical Features and Surgical Efficacy of Endoscopic Endonasal Transtuberculum Sellae Approach.
World neurosurgeryPituitary incidentalomas in paediatric age are different from those described in adulthood.
PituitaryTake It with a Grain of Salt.
The New England journal of medicineRecurrent Rathke's Cleft Cysts: Incidence and Surgical Management in a Tertiary Pituitary Center over 2 Decades.
Operative neurosurgery (Hagerstown, Md.)Symptomatic Rathke cleft cyst in paediatric patients - clinical presentations, surgical treatment and postoperative outcomes - an analysis of 38 cases.
Journal of pediatric endocrinology & metabolism : JPEMNatural history of Rathke's cleft cysts: A retrospective analysis of a two centres experience.
Clinical endocrinologyLong-term surgical outcomes following transsphenoidal surgery in patients with Rathke's cleft cysts.
Journal of neurosurgery[Treatment of Rathke's Cleft Cyst:Technical Note for Preservation of Pituitary Function].
No shinkei geka. Neurological surgeryRathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma.
Frontiers in geneticsEdema of the optic tract in patients with tumors of the sellar region: clinical and visual implications in the pediatric population.
Journal of neurosurgery. PediatricsOutcome of diabetes insipidus in patients with Rathke's cleft cysts.
Clinical neurology and neurosurgeryPituitary xanthogranulomas: clinical features, radiological appearances and post-operative outcomes.
PituitarySurgical Management of Rathke Cleft Cysts.
World neurosurgeryCombined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.
Hormones (Athens, Greece)Giant multi-compartmental suprasellar Rathke's cleft cyst with restriction on diffusion weighted images.
The neuroradiology journalCholesterol granulomas presenting as sellar masses: a similar, but clinically distinct entity from craniopharyngioma and Rathke's cleft cyst.
PituitaryRathke Cleft Cyst with Entirely Ossified Cyst Wall and Partially Solid Cyst Content: A Case Report and Literature Review.
World neurosurgeryClinical Interrogation for Unveiling an Isolated Hypophysitis Mimicking Pituitary Adenoma.
World neurosurgeryThe Supraorbital Keyhole Approach to the Suprasellar and Supra-Intrasellar Rathke Cleft Cysts Under Pure Endoscopic Visualization.
World neurosurgeryIntraparenchymal infiltration of Rathke's cleft cysts manifesting as severe neurological deficits and hypopituitarism: 2 case reports.
BMC research notesRevised GH and cortisol cut-points for the glucagon stimulation test in the evaluation of GH and hypothalamic-pituitary-adrenal axes in adults: results from a prospective randomized multicenter study.
PituitaryVisual Deterioration and Herniation of the Anterior Cerebral Artery: Unusual Presentation of an Empty Sella Syndrome Complicating Decompression of a Rathke Cleft Cyst.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyImpact of selective pituitary gland incision or resection on hormonal function after adenoma or cyst resection.
PituitaryHypothalamic type of hypopituitarism and central diabetes insipidus probably linked to Rathke's cleft cyst.
Internal medicine (Tokyo, Japan)Pituitary incidentalomas: analysis of a neuroradiological cohort.
PituitaryAssociações
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.
- Pituitary Imaging: Indications and Outcomes From a Tertiary Pediatric Center in the United Arab Emirates.
- Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.
- Determinants of QTc Interval Prolongation in Patients with Hypopituitarism and Other Pituitary Disorders.
- The clinical picture of symptomatic Rathke cleft cysts in children.
- The endocrine spectrum of Rathke cleft cysts.
- Impact of sella floor reconstruction on Rathke Cleft Cyst recurrence: a systematic review and meta-analysis.
- Recovery of pituitary function in patients with apoplexy immediately after surgical resection of necrotic tumors.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:91350(Orphanet)
- MONDO:0019614(MONDO)
- GARD:19160(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788750(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
