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1.
Ital J Pediatr ; 50(1): 83, 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38650008

RESUMEN

BACKGROUND: Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed. Prolonged severe hypothyroidism is a rare cause of pituitary hyperplasia (PH) in childhood. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. METHODS: Twelve patients were retrospectively evaluated at five Italian and Polish Centres of Pediatric Endocrinology for height growth impairment. In all Centres, patients underwent routine clinical, biochemical and radiological evaluations. RESULTS: At the time of first assessment, the 75% of patients presented height growth arrest, while the remaining ones showed growth impairment. The study of thyroid function documented a condition of hypothyroidism, due to AT, in the entire cohort, although all patients had no thyroid enlargement. Thyroid ultrasound showed frankly atrophic or normal gland without goiter. Cerebral MRI documented symmetrical enlargement of the adenohypophysis in all patients and a homogeneous enhancement of the gland after the administration of Gadolinium-DPTA. Replacement therapy with levothyroxine was started and patients underwent close follow-up every 3 months. During the 12 months of follow-up, an improvement in terms of height growth has been observed in 88% of patients who continued the follow-up. Laboratory findings showed normalization of thyroid function and the control brain MRI documented complete regression of PH to a volume within the normal range for age and sex. CONCLUSIONS: This is the largest pediatric cohort with severe autoimmune primary hypothyroidism without goiter, but with pituitary hyperplasia in which significant growth impairment was the most evident presenting sign. AAT phenotype might be correlated with this specific clinical presentation. In youths with growth impairment, hypothyroidism should always be excluded even in the absence of clear clinical signs of dysthyroidism.


Asunto(s)
Hiperplasia , Tiroiditis Autoinmune , Humanos , Niño , Masculino , Femenino , Estudios Retrospectivos , Tiroiditis Autoinmune/complicaciones , Adolescente , Trastornos del Crecimiento/etiología , Hipófisis/patología , Hipófisis/diagnóstico por imagen , Italia , Imagen por Resonancia Magnética , Preescolar , Tiroxina/uso terapéutico , Estudios de Seguimiento , Atrofia
2.
Cereb Cortex ; 34(4)2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38610089

RESUMEN

The pituitary gland plays an important role in the stress response mechanism. Given the direct link between adjustment disorder and stress, we hypothesized that there might be changes in the pituitary gland in these patients. The study comprised a patient group of 19 individuals with adjustment disorder according to the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition, and 18 healthy controls. The mean pituitary gland volumes of the patient group were not statistically significantly different from those of the healthy control group (80.81 ± 1.82 mm3 in patients with adjustment disorder vs. 81.10 ± 7.04 mm3 in healthy controls, with a statistically nonsignificant difference of P > 0.05). This finding is contrary to our previous findings in anxiety-related disorders. In this regard, adjustment disorder is not similar to anxiety-related disorders in terms of pituitary gland volumes. We should also clearly state that our study is a pioneering study and that studies with large samples are needed to support our findings. The limitations of our study can be attributed to the small sample size, the utilization of a cross-sectional design, and the inclusion of patients using psychotropic drugs.


Asunto(s)
Trastornos de Adaptación , Hipófisis , Humanos , Estudios Transversales , Hipófisis/diagnóstico por imagen , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Estado de Salud
3.
Brain Struct Funct ; 229(4): 1001-1010, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38502330

RESUMEN

The probabilistic topography and inter-individual variability of the pituitary gland (PG) remain undetermined. The absence of a standardized reference atlas hinders research on PG volumetrics. In this study, we aimed at creating maximum probability maps for the anterior and posterior PG in young female adults. We manually delineated the anterior and posterior parts of the pituitary glands in 26 healthy subjects using high-resolution MRI T1 images. A three-step procedure and a cost function-masking approach were employed to optimize spatial normalization for the PG. We generated probabilistic atlases and maximum probability maps, which were subsequently coregistered back to the subjects' space and compared to manual delineations. Manual measurements led to a total pituitary volume of 705 ± 88 mm³, with the anterior and posterior volumes measuring 614 ± 82 mm³ and 91 ± 20 mm³, respectively. The mean relative volume difference between manual and atlas-based estimations was 1.3%. The global pituitary atlas exhibited an 80% (± 9%) overlap for the DICE index and 67% (± 11%) for the Jaccard index. Similarly, these values were 77% (± 13%) and 64% (± 14%) for the anterior pituitary atlas and 62% (± 21%) and 47% (± 17%) for the posterior PG atlas, respectively. We observed a substantial concordance and a significant correlation between the volume estimations of the manual and atlas-based methods for the global pituitary and anterior volumes. The maximum probability maps of the anterior and posterior PG lay the groundwork for automatic atlas-based segmentation methods and the standardized analysis of large PG datasets.


Asunto(s)
Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Adulto , Humanos , Femenino , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Algoritmos , Hipófisis/diagnóstico por imagen
4.
J Pediatr Endocrinol Metab ; 37(5): 477-481, 2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38444307

RESUMEN

OBJECTIVES: The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. CASE PRESENTATION: We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the ROBO1 gene was identified. This is the first report of ROBO1 mutation associated with posterior pituitary dysfunction. CONCLUSIONS: We conclude and emphasize that ROBO1 should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of ROBO1 mutation. The full clinical spectrum of the mutations may not be fully known.


Asunto(s)
Diabetes Insípida Neurogénica , Hipopituitarismo , Mutación , Proteínas del Tejido Nervioso , Receptores Inmunológicos , Proteínas Roundabout , Humanos , Masculino , Receptores Inmunológicos/genética , Receptores Inmunológicos/deficiencia , Proteínas del Tejido Nervioso/genética , Hipopituitarismo/genética , Hipopituitarismo/diagnóstico , Preescolar , Diabetes Insípida Neurogénica/genética , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipófisis/anomalías , Pronóstico
5.
Pediatr Radiol ; 54(5): 787-794, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38386022

RESUMEN

BACKGROUND: Pituitary gland height reflects secretory activity of the hypothalamo-pituitary axis. OBJECTIVE: To assess the cumulative impact of fetal growth and sex on pituitary gland height in premature twins, dissociated from prematurity. MATERIALS AND METHODS: A retrospective study was conducted, assessing the pituitary gland height in 63 pairs of preterm twins, measured from T1-weighted magnetic resonance imaging (MRI). Auxological parameters, including body weight, body length, and head circumference, at birth and at the time of MRI, were used as proxies for fetal and postnatal growth, respectively. The study population was divided into two groups, using corrected age at around term equivalent as the cutoff point. Statistical analysis was performed using mixed-effects linear regression models. RESULTS: When pituitary gland height was evaluated at around term equivalent, a greater pituitary gland height, suggesting a more immature hypothamo-pituitary axis, was associated with the twin exhibiting lower auxological data at birth. The same association was observed when body weight and length at MRI were used as covariants. In the group evaluated after term equivalent, a smaller pituitary gland height, suggesting a more mature hypothamo-pituitary axis, was associated with male sex. This difference was observed in twin pairs with higher average body weight at birth, and in babies exhibiting higher auxological data at MRI. CONCLUSION: After isolating the effect of prematurity, at around term equivalent, pituitary gland height reflects the cumulative impact of fetal growth on the hypothalamo-pituitary axis. Subsequently, pituitary gland height shows effects of sex and of fetal and postnatal growth.


Asunto(s)
Recien Nacido Prematuro , Imagen por Resonancia Magnética , Hipófisis , Humanos , Masculino , Femenino , Imagen por Resonancia Magnética/métodos , Recién Nacido , Hipófisis/diagnóstico por imagen , Hipófisis/crecimiento & desarrollo , Recien Nacido Prematuro/crecimiento & desarrollo , Estudios Retrospectivos , Factores Sexuales , Gemelos , Tamaño de los Órganos
6.
Front Endocrinol (Lausanne) ; 15: 1338743, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38370353

RESUMEN

Introduction: In clinical research on pituitary disorders, pituitary gland (PG) segmentation plays a pivotal role, which impacts the diagnosis and treatment of conditions such as endocrine dysfunctions and visual impairments. Manual segmentation, which is the traditional method, is tedious and susceptible to inter-observer differences. Thus, this study introduces an automated solution, utilizing deep learning, for PG segmentation from magnetic resonance imaging (MRI). Methods: A total of 153 university students were enrolled, and their MRI images were used to build a training dataset and ground truth data through manual segmentation of the PGs. A model was trained employing data augmentation and a three-dimensional U-Net architecture with a five-fold cross-validation. A predefined field of view was applied to highlight the PG region to optimize memory usage. The model's performance was tested on an independent dataset. The model's performance was tested on an independent dataset for evaluating accuracy, precision, recall, and an F1 score. Results and discussion: The model achieved a training accuracy, precision, recall, and an F1 score of 92.7%, 0.87, 0.91, and 0.89, respectively. Moreover, the study explored the relationship between PG morphology and age using the model. The results indicated a significant association between PG volume and midsagittal area with age. These findings suggest that a precise volumetric PG analysis through an automated segmentation can greatly enhance diagnostic accuracy and surveillance of pituitary disorders.


Asunto(s)
Aprendizaje Profundo , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Proyectos de Investigación , Hipófisis/diagnóstico por imagen
7.
Probl Endokrinol (Mosk) ; 69(6): 54-62, 2024 Jan 24.
Artículo en Ruso | MEDLINE | ID: mdl-38311995

RESUMEN

In recent years, there has been a significant increase in the prevalence of autoimmune endocrinopathies, which are known to affect various levels of the endocrine system, including the pituitary gland. Hypophysitis is a general term used to describe any form of sellar and suprasellar inflammation that leads to structural changes in the hypothalamic-pituitary region and manifests itself in varying degrees of hormonal deficiency of the anterior and posterior pituitary glands. To date, there is a primary form of hypophysitis, which occurs as a result of an autoimmune lesion directly to the pituitary gland, and a secondary form of hypophysitis, which occurs as a result of the presence of a systemic autoimmune disease. Regardless of the etiology, patients with hypophysitis show various signs and symptoms caused by an inflammatory process in the pituitary gland, which can lead to the development of hypopituitarism, compression of the sellar and parasellar structures. MRI is currently the best non-invasive diagnostic tool for diagnosing hypopituitarism, however, the diagnosis can be made with certainty only by histological examination of the pituitary tissue, which requires an invasive approach, which greatly reduces the feasibility of this procedure. In this article, we present a patient with MRI showing signs of hypophysitis in the absence of clear clinical symptoms.


Asunto(s)
Hipofisitis , Hipopituitarismo , Enfermedades de la Hipófisis , Humanos , Diagnóstico Diferencial , Hipofisitis/complicaciones , Hipofisitis/diagnóstico , Enfermedades de la Hipófisis/complicaciones , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/terapia , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipopituitarismo/diagnóstico
8.
Acta Neurochir (Wien) ; 166(1): 61, 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38305984

RESUMEN

BACKGROUND: Microsurgery alone often proves to be challenging in treating paraclinoid internal carotid artery (ICA) aneurysms, which are known for their complex anatomy. METHOD: A 53-year-old female with a large right ICA-superior hypophyseal artery (SHA) aneurysm underwent clipping repair. Mixed reality technology was utilized in the preoperative planning and anatomical study. During the surgery, the anterior clinoid process was removed intradurally to improve access to the aneurysm neck. The aneurysm was then secured with a long curved clip. The patient's recovery was successful without any complications. CONCLUSION: This report aims to shed light on the intricacies involved in clipping ICA-SHA aneurysms.


Asunto(s)
Enfermedades de las Arterias Carótidas , Aneurisma Intracraneal , Femenino , Humanos , Persona de Mediana Edad , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/cirugía , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/cirugía , Aneurisma Intracraneal/complicaciones , Procedimientos Neuroquirúrgicos , Hipófisis/diagnóstico por imagen , Hipófisis/cirugía , Hipófisis/irrigación sanguínea , Microcirugia , Instrumentos Quirúrgicos , Enfermedades de las Arterias Carótidas/cirugía
9.
Endocrine ; 84(2): 670-676, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38194218

RESUMEN

PURPOSE: Data regarding the presence of a prolactin (PRL) threshold above which a pituitary magnetic resonance imaging (MRI) is mandatory in patients with hyperprolactinemia (hyperPRL) are controversial and derived primarily from studies focused on female populations. Aim of our study was to evaluate in a cohort of patients of both sexes with confirmed hyperPRL, the possible correlation between PRL values and the presence of pituitary abnormalities. METHODS: We retrospectively analyzed data from patients who underwent serial PRL sampling at our Division between January 2015 and December 2022. Patients diagnosed with monomeric hyperPRL at serial sampling and with subsequent contrast-enhanced MRI results available for the pituitary region were included in the study. Exclusion criteria were prior pituitary disease, severe renal insufficiency, liver cirrhosis, uncompensated primary hypothyroidism and ongoing therapy with hyperprolactinemic drugs. Physiological causes of hyperPRL were also ruled out. RESULTS: Out of the 1253 patients who underwent serial PRL sampling, 139 patients (101 women and 38 men) met the inclusion criteria: 106 (76.3%) patients had some form of pituitary disease, with microlesions observed in 69.8%, macrolesions in 25.5% and other findings in 4.7% of subjects. PRL values showed a modest accuracy in predicting the presence of a pituitary abnormality and the best cut-offs identified were >25 µg/L (AUC 0.767, p = 0.003) and >44.2 µg/L (AUC 0.697, p < 0.001) in men and women, respectively; however, if only patients with PRL values > 500 µg/L were excluded from the analysis, as they were already supposed to harbor a macroprolactinoma, PRL levels were not able to predict the presence of a macrolesion neither in men nor women. CONCLUSION: Given the high prevalence of pituitary abnormalities in patients of both sexes with hyperPRL at serial sampling, performing a pituitary imaging in all cases of hyperPRL, even if mild, appears to be a cautious choice.


Asunto(s)
Hiperprolactinemia , Imagen por Resonancia Magnética , Prolactina , Humanos , Hiperprolactinemia/sangre , Hiperprolactinemia/etiología , Femenino , Masculino , Prolactina/sangre , Adulto , Estudios Retrospectivos , Persona de Mediana Edad , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Adulto Joven , Enfermedades de la Hipófisis/sangre , Enfermedades de la Hipófisis/diagnóstico por imagen , Enfermedades de la Hipófisis/diagnóstico , Anciano , Neoplasias Hipofisarias/sangre , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico por imagen , Adolescente
10.
Endocr J ; 71(3): 285-293, 2024 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-38281757

RESUMEN

Pituitary xanthogranulomatomas (XG) are a rare pathological entity caused by accumulation of lipid laden macrophages and reactive granuloma formation usually triggered by cystic fluid leakage or hemorrhage. Our aim was to compare clinical characteristics and presenting features of patients with secondary etiology of XG and those with no identifiable founding lesion (primary -"pure" XG) in order to gain new insights into this rare pituitary pathology. In a retrospective review of 714 patients operated for sellar masses, at tertiary center, we identified 16 (2.24%) with histologically confirmed diagnosis of pituitary XG over the period of 7 years (2015-2021). Patients were further analyzed according to XG etiology: "pure"- XG (n = 8) with no identifiable founding lesion were compared to those with histological elements of pituitary tumor or cyst - secondary XG (n = 8). We identified 16 patients (11 male), mean age 44.8 ± 22.3 years, diagnosed with pituitary XG. Secondary forms were associated with Ratke's cleft cyst (RCC, n = 2) and pituitary adenoma (PA, n = 6). The most common presenting features in both groups were hypopituitarism (75%), headache (68.5%) and visual disturbances (37.5%). Predominance of male sex was noted (males 68.75%, females 31.25%), especially in patients with primary forms. Patients with primary pituitary XG were all males (p = 0.0256) and more frequently affected by panhypopituitarism (87.5% vs. 25%, p = 0.0406) compared to patients with secondary causes. Hyperprolactinemia was noted in pituitary tumor group with secondary etiology only (p = 0.0769). Majority of lesions were solid on magnetic resonance imaging - MRI (81.25%). Distinct clinical phenotype was observed dependent on the etiology of XG.


Asunto(s)
Quistes del Sistema Nervioso Central , Quistes , Enfermedades de la Hipófisis , Neoplasias Hipofisarias , Xantomatosis , Femenino , Humanos , Masculino , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/epidemiología , Enfermedades de la Hipófisis/epidemiología , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Imagen por Resonancia Magnética , Quistes del Sistema Nervioso Central/complicaciones , Quistes/patología , Granuloma/complicaciones , Granuloma/patología , Xantomatosis/epidemiología , Xantomatosis/patología
12.
Clin Neurol Neurosurg ; 236: 108111, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38199117

RESUMEN

OBJECTIVES: The purpose of this study was to evaluate the effectiveness of endoscopic endonasal surgery (EES) for Rathke's cleft cysts (RCCs) and the advantages of detailed preoperative imaging evaluation, intraoperative personalized removal and multilevel sellar floor reconstruction. METHODS: The clinical data of 43 patients with RCCs who were treated by EES in the neurosurgery department of affiliated hospital of Jiangnan University and Wuxi No.2 People's Hospital from January 2018 to January 2023 were retrospectively analyzed. The effectiveness of EES for RCCs was analyzed by imaging information, surgical procedures, symptom improvement and complications. RESULTS: All 43 RCCs were completely removed by EES, and all clinical symptoms improved to varying degrees. Postoperative relief of headache was achieved in 23 out of 26 patients (88.5 %); there was improvement in 10 out of 13 patients with visual field disorders (76.9 %) and in 8 out of 10 patients with endocrine abnormalities (80 %). New hormonal deficiency was discovered in 7 of all the patients postoperatively. There were 8 patients with postoperative diabetes insipidus and 1 patient with cerebrospinal fluid leakage. The incidence of new hormonal dysfunction and postoperative DI in expanded EES (33.3 %, 33.3 %) was higher than it in conventional EES (4 %, 8 %) (P < 0.05). The average follow-up time was 29.1 ± 14.8 months, and there were no deaths or infections. Three patients presented with cyst recurrence on MRI. CONCLUSIONS: The clinical manifestations and imaging characteristics of RCCs are variable, and a detailed preoperative review of the imaging is helpful for the development of surgical plans. RCCs can be treated more safely and thoroughly with less trauma and complications by intraoperative personalized removal and multilevel sellar floor reconstruction. The high incidence of new hormonal dysfunction and postoperative DI may be related to the disturbance of the pituitary stalk. EES has unique advantages and high clinical application value for the treatment of RCCs.


Asunto(s)
Quistes del Sistema Nervioso Central , Quistes , Neoplasias Hipofisarias , Humanos , Estudios Retrospectivos , Quistes del Sistema Nervioso Central/diagnóstico por imagen , Quistes del Sistema Nervioso Central/cirugía , Quistes del Sistema Nervioso Central/complicaciones , Endoscopía , Quistes/complicaciones , Hipófisis/diagnóstico por imagen , Hipófisis/cirugía , Neoplasias Hipofisarias/cirugía
13.
Neuroradiol J ; 37(1): 39-42, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37590100

RESUMEN

PURPOSE: Imaging changes in the pituitary volume during pregnancy remains scantly researched. This study set out to assess the differences in total, anterior, and posterior pituitary volume in pregnant women compared to nulliparous and post-partum women. MATERIALS AND METHODS: A retrospective review was completed of women that had undergone MRI imaging of the brain. Patients were divided into three cohorts: pregnant, nulliparous, and post-partum (defined as being within 12 months of delivery). Anterior and posterior pituitary volumes were manually measured. RESULTS: 171 patients were included, of which 68 were pregnant, 52 were post-partum, and 51 were nulliparous. The average anterior (621.0 ± 171.6 mm3) and total (705.4 ± 172.2 mm3) pituitary volumes were significantly larger in pregnant patients than nulliparous women (522.6 ± 159.8 mm3 and 624.5 ± 163.7 mm3, respectively) (p = .002 and p = .01, respectively). The posterior pituitary volume was significantly smaller in pregnant women (84.4 ± 32.9 mm3) compared to both post-partum (101.2 ± 42.0 mm3) and nulliparous (102.0 ± 46.1 mm3) women (p = .02 for both). CONCLUSIONS: The anterior and total pituitary volumes are significantly larger during pregnancy persisting into the post-partum period. The posterior pituitary volume, conversely, decreases during pregnancy, and returns to its normal size in the post-partum period.


Asunto(s)
Enfermedades de la Hipófisis , Periodo Posparto , Embarazo , Femenino , Humanos , Hipófisis/diagnóstico por imagen , Estudios Retrospectivos , Imagen por Resonancia Magnética
14.
Cerebellum ; 23(2): 757-774, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37155088

RESUMEN

The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of disorders, caused by different genetic mutations often associated with a recessive inheritance. In these patients, magnetic resonance imaging (MRI) plays a pivotal role in the diagnostic workflow, with a variable involvement of the cerebellar cortex, alone or in combination with other brain structures. Neuroimaging involvement of the pituitary gland is also variable. Here, we provide an overview of the main clinical and conventional brain and pituitary gland MRI imaging findings of the most common genetic mutations associated with the clinical phenotype of ataxia and hypogonadism, with the aim of helping neuroradiologists in the identification of these disorders.


Asunto(s)
Ataxia Cerebelosa , Hipogonadismo , Humanos , Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/complicaciones , Hipogonadismo/diagnóstico por imagen , Hipogonadismo/genética , Encéfalo/diagnóstico por imagen , Hipófisis/diagnóstico por imagen , Imagen por Resonancia Magnética
15.
PLoS One ; 18(12): e0292664, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38096238

RESUMEN

Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging (MRI), as well in some cases a range of heterogeneous somatic anomalies. The triad can be incomplete. Here, we performed exome sequencing on 16 sporadic patients, aged 0.4 to 13.7 years diagnosed with isolated or complex PSIS. Growth hormone deficiency was isolated in 10 cases, or associated with thyrotropin deficiency in 6 others (isolated (2 cases), associated with adrenocorticotropin deficiency (1 case), gonadotropins deficiency (1 case), or multiple deficiencies (2 cases)). Additional phenotypic anomalies were present in six cases (37.5%) including four with ophthalmic disorders. In 13 patients variants were identified that may contribute to the phenotype. However, only a single individual carried a variant classified as pathogenic. This child presented with the typical clinical presentation of Okur-Chung neurodevelopmental syndrome due to a CSNK2A1 missense variant. We also identified variants in the holoprosencephaly associated genes GLI2 and PTCH1. A likely pathogenic novel splice site variant in the GLI2 gene was observed in a child with PSIS and megacisterna magna. In the remaining 11 cases 26 variants in genes associated with pituitary development or function were identified and were classified of unknown significance. Compared with syndromic forms the diagnostic yield in the isolated forms of PSIS is low. Although we identified rare or novel missense variants in several hypogonadotropic hypogonadism genes (e.g. FGF17, HS6ST1, KISS1R, CHD7, IL17RD) definitively linking them to the PSIS phenotype is premature. A major challenge remains to identify pathogenic variants in cases with isolated PSIS.


Asunto(s)
Hipopituitarismo , Enfermedades de la Hipófisis , Niño , Humanos , Secuenciación del Exoma , Enfermedades de la Hipófisis/diagnóstico , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipopituitarismo/genética , Mutación Missense
16.
Medicina (B Aires) ; 83(6): 1007-1012, 2023.
Artículo en Español | MEDLINE | ID: mdl-38117724

RESUMEN

Hypophysitis is a pathology with low incidence and prevalence. Likewise, deep fungal infections in immunocompetent patients also represent a rare phenomenon. Even rarer is the case described below, where these two mentioned elements are combined, namely: pituitary cryptococcoma or granulomatous hypophysitis caused by said pathogen in a host without altered immune response. After research in PubMed, there are limited cases in the medical literature of granulomatous hypophysitis caused by Cryptococcus spp., which simulated a pituitary macroadenoma by clinical and imaging manifestations. We did not find reports in which there is no evidence of involvement of the meningeal tissue. The fungal etiology is scarcely described in the reference guidelines for hypophysitis and we believe that Cryptococcus spp. it should be taken into account in the differential diagnosis of secondary granulomatous hypophysitis since it is a ubiquitous pathogen and the treatment is substantially different from other entities. It becomes more relevant given the current trend towards the use of high-dose systemic glucocorticoids for the treatment of hypophysitis, which could have generated greater damage if the correct diagnosis had not been made.


La hipofisitis es una afección con baja incidencia y prevalencia. Asimismo, las infecciones profundas por hongos en pacientes inmunocompetentes también representan un fenómeno infrecuente. Más raro aún es el caso que se describe a continuación, en donde se conjugan estos dos elementos mencionados, a saber: cryptococcoma hipofisario o hipofisitis granulomatosa causado por dicho patógeno en un huésped sin alteración de la respuesta inmune. Luego de una búsqueda realizada en PubMed, existen limitados casos en la literatura médica de hipofisitis granulomatosa por Cryptococcus spp., que simuló por manifestaciones clínicas e imagenológicas un macroadenoma hipofisario. No encontramos informes en los que no haya evidencia de afectación del tejido meníngeo. La etiología micótica está escasamente descrita en las guías de referencia para hipofisitis y creemos que Cryptococcus spp. debe ser tenido en cuenta en el diagnóstico diferencial de las hipofisitis granulomatosas secundarias dado que es un patógeno ubicuo y el tratamiento es sustancialmente diferente a otras entidades. Cobra mayor relevancia ante la tendencia actual al uso de glucocorticoides sistémicos a altas dosis para el tratamiento de la hipofisitis, que podría haber generado mayor daño de no haberse hecho el diagnóstico correcto.


Asunto(s)
Hipofisitis Autoinmune , Hipofisitis , Neoplasias Hipofisarias , Humanos , Hipofisitis Autoinmune/diagnóstico , Hipofisitis Autoinmune/tratamiento farmacológico , Hipofisitis Autoinmune/patología , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipofisitis/complicaciones , Hipofisitis/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Glucocorticoides/uso terapéutico
18.
Neurosurg Rev ; 46(1): 312, 2023 Nov 23.
Artículo en Inglés | MEDLINE | ID: mdl-37996551

RESUMEN

To assess the use of indocyanine green (ICG) fluorescence endoscopy to evaluate pituitary blood flow in craniopharyngioma resection and its possible impact on intraoperative decisions regarding pituitary stalk processing. Patients with craniopharyngiomas who had undergone transsphenoidal surgery since March 2021, when an ICG endoscope was introduced at the Kagoshima University Hospital, were included in the study. When targeted tumor removal was approaching completion, 10 mg of ICG was administered intravenously to evaluate blood flow in the pituitary stalk and gland. ICG signals and endocrinological status before and after surgery were evaluated retrospectively. Pituitary stalk and gland blood flow were evaluated as positive (++), weakly positive (+), and no signal (-).Ten patients with craniopharyngiomas underwent transsphenoidal surgery using an ICG endoscope (mean age 56.6 ± 14.2 years; 40% male). Among the eight patients in whom the pituitary stalk was preserved, pituitary function with positive signal on the stalk was intact in two. Two other patients with weakly positive stalk and positive pituitary gland signals showed intact function or minimal pituitary dysfunction. Four patients had impairments in more than three axes with poor ICG signals in the stalk or pituitary gland. Two patients underwent pituitary amputation because of high tumor invasion and lack of ICG signal in the stalk after tumor removal, resulting in panhypopituitarism. A negative ICG signal in the pituitary stalk is likely to indicate postoperative pituitary function loss. Craniopharyngioma surgery using ICG endoscopy may be useful for predicting endocrine prognosis and improving tumor outcomes.


Asunto(s)
Craneofaringioma , Neoplasias Hipofisarias , Humanos , Masculino , Adulto , Persona de Mediana Edad , Anciano , Femenino , Craneofaringioma/diagnóstico por imagen , Craneofaringioma/cirugía , Craneofaringioma/patología , Verde de Indocianina , Estudios Retrospectivos , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/patología , Hipófisis/diagnóstico por imagen , Hipófisis/cirugía , Endoscopía/métodos , Resultado del Tratamiento
19.
BMC Med Imaging ; 23(1): 188, 2023 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-37978440

RESUMEN

BACKGROUND: Although it is generally thought that disturbance of perfusion in the anterior lobe of the pituitary gland leads to complete or partial hypopituitarism, the gadolinium (Gd) enhancement findings on Magnetic Resonance Imaging (MRI) of patients with growth hormone deficiency (GHD) remain unknown. The purpose of this study was to compare Gd enhancement of the pituitary gland on MRI of patients with GHD to that of healthy subjects. METHODS: In this retrospective study, we analyzed the data of 10 patients with clinically diagnosed GHD who underwent Gd-enhanced MRI of their pituitaries (age 8.3[Formula: see text]3.5 year, female 1, males 9), together with data of 5 patients with clinically normal growth hormone (GH) dynamics who also underwent Gd-enhanced pituitary MRI (age 6.2[Formula: see text]3.4 year, female 4, males 1). In each subject, a maximum-diameter region of interest (ROI) was drawn on the anterior pituitary gland of post Gd-enhanced coronal T1-weighted images, and the signal intensity ratio of the anterior pituitary gland to the white matter on the right temporal lobe of the same cross section was assessed. RESULTS: The mean area of the ROI in the anterior pituitary gland and white matter of temporal lobe on the same cross section showed no significant differences between patients with GHD and those with normal GH (pituitary, 17.43 mm2[Formula: see text]8.24 vs. 21.08 mm2[Formula: see text]10.40, p = 1.00; white matter, 74.47mm2[Formula: see text]24.19 and 62.50 mm2[Formula: see text]17.90, p = 0.37), suggesting that the sizes of the pituitary glands were comparable. The ratios of Gd enhancement in the anterior pituitary gland showed significant differences between GHD and normal-GH subjects ([Formula: see text][Formula: see text]0.68[Formula: see text]0.26 vs.[Formula: see text]0.16, p= 0.04). CONCLUSIONS: These results suggested that the contrast effect on Gd-enhanced MRI is attenuated in the pituitary glands of patients with GHD compared to those with normal GH. These new clinical findings regarding Gd-enhanced MRI can assist the diagnosis of pediatric GHD.


Asunto(s)
Hormona de Crecimiento Humana , Hipopituitarismo , Masculino , Niño , Humanos , Femenino , Medios de Contraste , Gadolinio , Estudios Retrospectivos , Hipófisis/diagnóstico por imagen , Hipopituitarismo/diagnóstico , Imagen por Resonancia Magnética , Hormona del Crecimiento
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