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1.
Eur J Med Res ; 29(1): 262, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38698484

RESUMEN

OBJECTIVES: Pituitary abscess (PA) accounts for only 0.3-0.5% of sellar masses, and the lack of specific clinical symptoms makes diagnosing PA difficult without a surgical biopsy. In clinical practice, PA is often mistaken for cystic pituitary adenoma, craniopharyngioma, and Rathke's cyst. Thus, this study aims to investigate challenges in diagnosing PA and evaluate the importance of combining intraoperative surgery with postoperative antibiotic treatment. METHODS: We conducted a retrospective analysis of 19 patients diagnosed with PA through histopathology. All patients underwent transsphenoidal surgery (TSS) for pituitary adenomas after undergoing comprehensive preoperative evaluations, including routine tests, endocrine assay, and imaging examination. Furthermore, we compared different treatments for pituitary abscess (PA) to determine the most effective approach for achieving a favorable prognosis. RESULTS: The most prevalent symptom of PA was headache, especially in the frontal-temporal and vertex regions, ranging from mild to moderate severity. Hypopituitarism-related symptoms were also frequently observed, including hypaphrodisia, cold sensitivity, fatigue, weight loss, polyuria, and amenorrhea. Twelve patients exhibited abnormalities in endocrinology examinations. Diagnosing PA correctly is challenging. In our study, none of the patients were correctly diagnosed with PA prior to surgery, and many sellar lesions were misdiagnosed. The favorable prognosis was largely attributed to surgical intervention and active postoperative antibiotic therapy. CONCLUSIONS: Given the lack of clarity in preoperative diagnosis, typical intraoperative findings and effective antibiotics treatment are more indicative of the correct diagnosis than other tests. In terms of therapy, optimal surgical intervention and active postoperative antibiotic treatment contribute to resolving the challenges posed by PA.


Asunto(s)
Enfermedades de la Hipófisis , Humanos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Estudios Retrospectivos , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/cirugía , Enfermedades de la Hipófisis/terapia , Anciano , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/terapia , Neoplasias Hipofisarias/patología , Absceso Encefálico/diagnóstico , Absceso Encefálico/terapia , Absceso/diagnóstico , Absceso/terapia , Antibacterianos/uso terapéutico
2.
J Vet Diagn Invest ; 36(2): 248-253, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38462742

RESUMEN

Clinical and histologic examination of a 12-y-old client-owned Quarter Horse gelding with pituitary pars intermedia dysfunction revealed dermatitis, cellulitis, and osteomyelitis caused by Aspergillus nidulans, confirmed by a PCR assay. This novel presentation of a fungal disease in a horse was characterized by aggressive local invasion and failure to respond to all medical therapy attempted over a 1-y period. Treatments included systemic and topical antifungals, anti-inflammatories, and use of cellular matrices. Surgical excision was not attempted but should be strongly considered early in the disease process in similar cases if clean margins can be achieved. Postmortem findings were of locally aggressive disease with no dissemination.


Asunto(s)
Aspergillus nidulans , Dermatitis , Enfermedades de los Caballos , Osteomielitis , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Masculino , Animales , Celulitis (Flemón)/veterinaria , Enfermedades de los Caballos/diagnóstico , Enfermedades de los Caballos/patología , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria , Adenohipófisis Porción Intermedia/patología , Osteomielitis/diagnóstico , Osteomielitis/veterinaria , Dermatitis/patología , Dermatitis/veterinaria
3.
Vet J ; 304: 106071, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38341024

RESUMEN

Measurement of basal adrenocorticotropic hormone (ACTH) concentration is the most commonly used diagnostic test for pituitary pars intermedia dysfunction (PPID). Although several pre-analytical and analytical factors have been reported to affect basal ACTH concentrations in equids, the extent to which these have been evaluated in the context of PPID diagnosis is unclear. The objectives of this scoping review were to identify and systematically chart current evidence about pre-analytical and analytical factors affecting basal ACTH concentrations in adult domestic equids. Systematic searches of electronic databases and conference proceedings were undertaken in June 2022, repeated in October 2022 and updated in August 2023. English language publications published prior to these dates were included. Screening and data extraction were undertaken individually by the authors, using predefined criteria and a modified scoping review data extraction template. After removal of duplicates, 903 publications were identified, of which 235 abstracts were screened for eligibility and 134 publications met inclusion criteria. Time of year, exercise, breed/type and transportation were the factors most frequently associated with significant increases in ACTH concentration (n = 26, 16, 13 and 10 publications, respectively). Only 25 publications reported inclusion of PPID cases in the study population, therefore the relationship between many factors affecting basal ACTH concentration and diagnostic accuracy for PPID remains undefined. However, several factors were identified that could impact interpretation of basal ACTH results. Findings also highlight the need for detailed reporting of pre-analytical and analytical conditions in future research to facilitate translation of evidence to practice.


Asunto(s)
Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Hormona Adrenocorticotrópica , Adenohipófisis Porción Intermedia/metabolismo , Enfermedades de los Caballos/diagnóstico , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria
4.
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
5.
BMC Endocr Disord ; 24(1): 20, 2024 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-38326790

RESUMEN

BACKGROUND: Lymphocytic hypophysitis is a rare autoimmune condition that usually presents during pregnancy and causes inflammation of the pituitary gland. Although the pathophysiology is not well understood, it often presents with headaches, visual disturbances, and symptoms of hypopituitarism. However, not all cases may present with hypopituitarism which can make this rare disease with an incidence of ~ 1 in 9 million much more difficult to diagnose. CASE PRESENTATION: We present a 35-year-old G4P4 woman with progressive vision loss and intermittent frontal headaches during her first trimester through 2 months postpartum. She presented with no symptoms of hypopituitarism and her hormone panel only showed elevated prolactin, possibly due to her breastfeeding. She was treated with a right pterional craniotomy with decompression of both optic nerves, partial resection of the suprasellar mass, and glucocorticoid therapy for headaches and visual disturbances. CONCLUSION: This case is notable for a presentation of lymphocytic hypophysitis without symptoms of hypopituitarism. This is important for outpatient providers to be aware of, especially those that care for pregnant patients so that unfavorable outcomes can be avoided.


Asunto(s)
Hipofisitis Autoinmune , Hipopituitarismo , Enfermedades de la Hipófisis , Neoplasias Hipofisarias , Humanos , Embarazo , Femenino , Adulto , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/cirugía , Hipofisitis Autoinmune/diagnóstico , Hipofisitis Autoinmune/complicaciones , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/complicaciones , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiología , Hormonas Hipofisarias , Cefalea/etiología , Cefalea/complicaciones , Imagen por Resonancia Magnética
6.
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
7.
Pituitary ; 27(2): 151-159, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38243126

RESUMEN

PURPOSE: Pituitary surgery can lead to post-surgical adrenal insufficiency with the need for glucocorticoid replacement and significant disease related burden. In patients who do not receive hydrocortisone replacement before surgery, at our center, an early morning plasma cortisol concentration using a cut-off value of 450 nmol/L 3 days after surgery (POD3) is used to guide the need for hydrocortisone replacement until dynamic confirmatory testing using metyrapone. The aim of this study was to critically assess the currently used diagnostic and treatment algorithm in patients undergoing pituitary surgery in our pituitary reference center. METHODS: Retrospective analysis of all patients with a POD3 plasma cortisol concentration < 450 nmol/L who received hydrocortisone replacement and a metyrapone test after 3 months. Plasma cortisol concentration was measured using an electrochemiluminescence immunoassay (Roche). All patients who underwent postoperative testing using metyrapone at Amsterdam UMC between January 2018 and February 2022 were included. Patients with Cushing's disease or those with hydrocortisone replacement prior to surgery were excluded. RESULTS: Ninety-five patients were included in the analysis. The postoperative cortisol concentration above which no patient had adrenal insufficiency (i.e. 11-deoxycortisol > 200 nmol/L) was 357 nmol/L (Sensitivity 100%, Specificity 31%, PPV:32%, NPV:100%). This translates into a 28% reduction in the need for hydrocortisone replacement compared with the presently used cortisol cut-off value of 450 nmol/L. CONCLUSION: Early morning plasma cortisol cut-off values lower than 450 nmol/L can safely be used to guide the need for hydrocortisone replacement after pituitary surgery.


Asunto(s)
Insuficiencia Suprarrenal , Enfermedades de la Hipófisis , Humanos , Hidrocortisona , Metirapona/uso terapéutico , Estudios Retrospectivos , Hipófisis/cirugía , Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/tratamiento farmacológico , Enfermedades de la Hipófisis/cirugía , Enfermedades de la Hipófisis/diagnóstico
9.
Equine Vet J ; 56(2): 291-298, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37649416

RESUMEN

BACKGROUND: The thyrotropin-releasing hormone (TRH) stimulation test is used to diagnose pituitary pars intermedia dysfunction (PPID) using 10- or 30-min protocols. Imprecise sampling time for the 10-min protocol can lead to misdiagnoses. OBJECTIVES: To determine the effect of imprecise sampling time for the 30-min protocol of the TRH stimulation test. STUDY DESIGN: In vivo experiment. METHODS: Plasma immunoreactive adrenocorticotropin (ACTH) concentrations were measured 9, 10, 11, 29, 30 and 31 min after intravenous administration of 1 mg of TRH in 15 control and 12 PPID horses. Differences in ACTH concentrations between sampling times, variability in ACTH concentrations between protocols, and diagnostic classification of PPID were assessed using Friedman's test, Bland-Altman plots, and Fisher's exact test, respectively, with 95% confidence intervals reported and significance set at p < 0.05. RESULTS: Imprecise sampling time resulted in variable ACTH concentrations, but significant differences in absolute ACTH concentrations were not detected for imprecise sampling within each protocol or between protocols. Imprecise sampling changed PPID diagnostic classification for 3/27 (11 [4-28] %) horses for both protocols. Using the 30-min protocol as a reference, 1/12 (8 [1-35] %) horses returned a negative test result and 5/12 (42 [19-68] %) horses returned equivocal test results that would be considered positive in practice due to the presence of supportive clinical signs. MAIN LIMITATIONS: Limited sample size and inter-horse variability reduced the ability to detect small but potentially relevant differences. CONCLUSIONS: Overall, the impact of imprecise sampling was not significantly different between the 10- and 30-min TRH stimulation test protocols. However, diagnostic classification for PPID would have varied between the 10- and 30-min protocols in this population, if clinical signs had been ignored. Precise timing during TRH stimulation tests and contextual interpretation of ACTH concentrations remain fundamental for the diagnosis of PPID.


Asunto(s)
Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Hormona Liberadora de Tirotropina , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria , Hormona Adrenocorticotrópica , Administración Intravenosa/veterinaria , Enfermedades de los Caballos/diagnóstico
10.
Equine Vet J ; 56(2): 220-242, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37795557

RESUMEN

BACKGROUND: Pituitary pars intermedia dysfunction (PPID) is a prevalent, age-related chronic disorder in equids. Diagnosis of PPID can be challenging because of its broad spectrum of clinical presentations and disparate published diagnostic criteria, and there are limited available treatment options. OBJECTIVES: To develop evidence-based primary care guidelines for the diagnosis and treatment of equine PPID based on the available literature. STUDY DESIGN: Evidence-based clinical guideline using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework. METHODS: Research questions were proposed by a panel of veterinarians and developed into PICO or another structured format. VetSRev and Veterinary Evidence were searched for evidence summaries, and systematic searches of the NCBI PubMed and CAB Direct databases were conducted using keyword searches in July 2022 and updated in January 2023. The evidence was evaluated using the GRADE framework. RESULTS AND RECOMMENDATIONS: The research questions were categorised into four areas: (A) Case selection for diagnostic testing, pre-test probability and diagnostic test accuracy, (B) interpretation of test results, (C) pharmacological treatments and other treatment/management options and (D) monitoring treated cases. Relevant veterinary publications were identified and assessed using the GRADE criteria. The results were developed into recommendations: (A) Case selection for diagnostic testing and diagnostic test accuracy: (i) The prevalence of PPID in equids aged ≥15 years is between 21% and 27%; (ii) hypertrichosis or delayed/incomplete hair coat shedding provides a high index of clinical suspicion for PPID; (iii) the combination of clinical signs and age informs the index of clinical suspicion prior to diagnostic testing; (iv) estimated pre-test probability of PPID should be considered in interpretation of diagnostic test results; (v) pre-test probability of PPID is low in equids aged <10 years; (vi) both pre-test probability of disease and season of testing have strong influence on the ability to diagnose PPID using basal adrenocorticotropic hormone (ACTH) or ACTH after thyrotropin-releasing hormone (TRH) stimulation. The overall diagnostic accuracy of basal ACTH concentrations for diagnosing PPID ranged between 88% and 92% in the autumn and 70% and 86% in the non-autumn, depending on the pre-test probability. Based on a single study, the overall diagnostic accuracy of ACTH concentrations in response to TRH after 30 minutes for diagnosing PPID ranged between 92% and 98% in the autumn and 90% and 94% in the non-autumn, depending on the pre-test probability. Thus, it should be remembered that the risk of a false positive result increases in situations where there is a low pre-test probability, which could mean that treatment is initiated for PPID without checking for a more likely alternative diagnosis. This could compromise horse welfare due to the commencement of lifelong therapy and/or failing to identify and treat an alternative potentially life-threatening condition. (B) Interpretation of diagnostic tests: (i) There is a significant effect of breed on plasma ACTH concentration, particularly in the autumn with markedly higher ACTH concentrations in some but not all 'thrifty' breeds; (ii) basal and/or post-TRH ACTH concentrations may also be affected by latitude/location, diet/feeding, coat colour, critical illness and trailer transport; (iii) mild pain is unlikely to have a large effect on basal ACTH, but caution may be required for more severe pain; (iv) determining diagnostic thresholds that allow for all possible contributory factors is not practical; therefore, the use of equivocal ranges is supported; (v) dynamic insulin testing and TRH stimulation testing may be combined, but TRH stimulation testing should not immediately follow an oral sugar test; (vi) equids with PPID and hyperinsulinaemia appear to be at higher risk of laminitis, but ACTH is not an independent predictor of laminitis risk. (C) Pharmacologic treatments and other treatment/management options: (i) Pergolide improves most clinical signs associated with PPID in the majority of affected animals; (ii) Pergolide treatment lowers basal ACTH concentrations and improves the ACTH response to TRH in many animals, but measures of insulin dysregulation (ID) are not altered in most cases; (iii) chasteberry has no effect on ACTH concentrations and there is no benefit to adding chasteberry to pergolide therapy; (iv) combination of cyproheptadine with pergolide is not superior to pergolide alone; (v) there is no evidence that pergolide has adverse cardiac effects in horses; (vi) Pergolide does not affect insulin sensitivity. (D) Monitoring pergolide-treated cases: (i) Hormone assays provide a crude indication of pituitary control in response to pergolide therapy, however it is unknown whether monitoring of ACTH concentrations and titrating of pergolide doses accordingly is associated with improved endocrinological or clinical outcome; (ii) it is unknown whether monitoring the ACTH response to TRH or clinical signs is associated with an improved outcome; (iii) there is very weak evidence to suggest that increasing pergolide dose in autumn months may be beneficial; (iv) there is little advantage in waiting for more than a month to perform follow-up endocrine testing following initiation of pergolide therapy; there may be merit in performing repeat tests sooner; (v) timing of sampling in relation to pergolide dosing does not confound measurement of ACTH concentration; (vi) there is no evidence that making changes after interpretation of ACTH concentrations measured at certain times of the year is associated with improved outcomes; (vii) evidence is very limited, however, compliance with PPID treatment appears to be poor and it is unclear whether this influences clinical outcome; (viii) evidence is very limited, but horses with clinical signs of PPID are likely to shed more nematode eggs than horses without clinical signs of PPID; it is unclear whether this results in an increased risk of parasitic disease or whether there is a need for more frequent assessment of faecal worm egg counts. MAIN LIMITATIONS: Limited relevant publications in the veterinary scientific literature. CONCLUSIONS: These findings should be used to inform decision-making in equine primary care practice.


Asunto(s)
Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Pergolida/uso terapéutico , Enfermedades de los Caballos/diagnóstico , Enfermedades de los Caballos/terapia , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/terapia , Enfermedades de la Hipófisis/veterinaria , Hormona Adrenocorticotrópica , Insulina , Dolor/tratamiento farmacológico , Dolor/veterinaria , Atención Primaria de Salud
11.
Equine Vet J ; 56(2): 368-376, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38151767

RESUMEN

BACKGROUND: Pathological fractures have been reported in equids with pituitary pars intermedia dysfunction (PPID) but their prevalence and pathogenesis is unknown. OBJECTIVES: To compare: (1) bone mineral density (BMD) in weight bearing and nonweight bearing bones in PPID+ equids and aged and young PPID- controls; and (2) biomechanical properties of the fourth lumbar vertebral body in PPID+ equids and aged PPID- equids. STUDY DESIGN: Case-control study: five PPID+ equids and six aged and four young PPID- control horses. METHODS: PPID status was based on clinical signs and necropsy examination of the pituitary gland (PG). The lumbar vertebral column, right front third metacarpus (MC3), left hind third metatarsus (MT3), and PG were removed after euthanasia. BMD was determined by quantitative computed tomography of regions of interest (ROI) in each bone and biomechanical testing was performed on the fourth lumbar vertebral body. Serum concentrations of parathormone (PTH), ionised Ca++ , 25-hydroxyvitamin D, and osteocalcin (OC) were also measured. Data were analysed using one-way ANOVA and correlation analyses. RESULTS: BMD of trabecular and cortical regions of interest (ROI) of the third, fourth (L4), and fifth lumbar vertebrae were significantly lower in PPID+ equids as compared with aged (p < 0. 001) and young (p < 0.01) PPID- controls. In contrast, no differences were found in BMD of trabecular or cortical ROIs of MC3 and MT3 between groups. No differences were detected in force at fracture, displacement at fracture, Young's modulus or strain of L4 between PPID+ and aged PPID- horses. No differences were found in serum PTH, ionised Ca++ , 25-hydroxyvitamin D, or OC concentrations between groups. MAIN LIMITATIONS: Limited number of equids studied and variation in test results. CONCLUSIONS: BMD of nonweight bearing bones can be decreased with PPID and could increase risk of developing pathological fractures.


Asunto(s)
Fracturas Espontáneas , Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Vértebras Lumbares/patología , Estudios de Casos y Controles , Densidad Ósea , Fracturas Espontáneas/patología , Fracturas Espontáneas/veterinaria , Adenohipófisis Porción Intermedia/patología , Enfermedades de la Hipófisis/veterinaria , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de los Caballos/diagnóstico
12.
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
13.
Vet J ; 300-302: 106036, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37805159

RESUMEN

Equine pituitary pars intermedia dysfunction (PPID) is common in aged horses. The majority of horses respond well to treatment, but treatment is lifelong, meaning accurate diagnosis of PPID is important. Similar to any condition, there is no perfect laboratory test to diagnose PPID and accuracy is affected by the characteristics of the population in which the test is being evaluated. This review details the importance of consideration of clinical factors and diagnostic test accuracy. Basal adrenocorticotrophic hormone (ACTH) concentration is used most frequently in practice and has very good diagnostic accuracy when used in combination with clinical judgement and the correct application of diagnostic thresholds. The thyrotropin-releasing hormone stimulation test can be used in horses with equivocal test results following basal ACTH testing, or to evaluate subtle cases due to its improved accuracy.


Asunto(s)
Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Hormona Liberadora de Tirotropina , Adenohipófisis Porción Intermedia/metabolismo , Enfermedades de los Caballos/diagnóstico , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria , Hormona Adrenocorticotrópica
14.
Vet J ; 300-302: 106034, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37778651

RESUMEN

Blood glucose concentration is often measured during an oral glucose test (OGT), but is not thought to aid in diagnosing insulin dysregulation (ID) or pituitary pars intermedia dysfunction (PPID). The aim of this retrospective study was to investigate whether the change in blood glucose concentration during an OGT aligned with indicators of equine metabolic syndrome or PPID, including serum insulin and plasma ACTH concentrations, clinical observations, age, sex, breed type and the test dose. The cohort included 149 horses, miniature horses, and ponies that had undergone an in-feed OGT and clinical examination between 2015 and 2021. The animals were diagnosed as either metabolically healthy, insulin-dysregulated, having PPID or both endocrinopathies. The mean ± standard error increase in blood glucose during the OGT was 3.41 ± 0.21 mM, and this change showed a weak positive correlation with the increase in serum insulin concentration (r = 0.36; P 0.001), body condition score (BCS; r = 0.26; P = 0.002) and cresty neck score (CNS; r = 0.38; P 0.001). The median [interquartile range] increase in blood glucose for miniature horses (5.25 [2.98-6.5] mM), was more than twice that seen in full-sized horses (2.4 [1.33-3.45] mM; P = 0.03). In metabolically healthy animals the increase in blood glucose during an OGT (+2.2 [1-3.5] mM) was smaller (P 0.001) than in animals with ID (+3.8 [2.73-5.33] mM), or both endocrine diseases (+6.1 [3.6-6.85] mM). There was an effect of the dose of dextrose on the blood glucose response, with higher doses yielding larger responses (P 0.001). The variability in these data support that basal and post-prandial blood glucose responses to an OGT are not appropriate as stand-alone diagnostic markers of ID or PPID. However, the association between blood glucose and CNS supports the use of CNS when evaluating animals for ID.


Asunto(s)
Enfermedades del Sistema Endocrino , Enfermedades de los Caballos , Síndrome Metabólico , Enfermedades de la Hipófisis , Humanos , Caballos , Animales , Glucemia , Estudios Retrospectivos , Enfermedades del Sistema Endocrino/veterinaria , Síndrome Metabólico/veterinaria , Insulina , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria
15.
Front Endocrinol (Lausanne) ; 14: 1226887, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37850100

RESUMEN

Objective: To evaluate the value of the thyrotropin-releasing hormone (TRH) test in the diagnosis of central hypothyroidism (CH) in patients with pituitary disease. Methods: Systematic evaluation of 359 TRH tests in patients with pituitary disease including measurements of thyroxine (T4), TBG-corrected T4 (T4corr), baseline TSH (TSH0) and relative or absolute TSH increase (TSHfold, TSHabsolute). Results: Patients diagnosed with CH (n=39) show comparable TSH0 (p-value 0.824) but lower T4corr (p-value <0.001) and lower TSH increase (p-value <0.001) compared to patients without CH. In 54% (42 of 78 cases) of patients with low T4corr, the CH diagnosis was rejected based on a high TSHfold. In these cases, a spontaneous increase and mean normalization in T4corr (from 62 to 73 nmol/L, p-value <0.001) was observed during the follow-up period (7.6 ± 5.0 years). Three of the 42 patients (7%) were started on replacement therapy due to spontaneous deterioration of thyroid function after 2.8 years. Patients diagnosed with CH reported significantly more symptoms of hypothyroidism (p-value 0.005), although, symptoms were reported in most patients with pituitary disease. The TRH test did not provide clinical relevant information in patients with normal T4 or patients awaiting pituitary surgery (78%, 281 of 359). There were only mild and reversible adverse effects related to the TRH test except for possibly one case (0.3%) experiencing a pituitary apoplexy. Conclusion: The TRH test could be reserved to patients with pituitary disease, low T4 levels without convincing signs of CH. Approximately 50% of patients with a slightly decreased T4 were considered to have normal pituitary thyroid function based on the TRH test results.


Asunto(s)
Hipotiroidismo , Enfermedades de la Hipófisis , Humanos , Hipertiroidismo/diagnóstico , Hipotiroidismo/diagnóstico , Enfermedades de la Hipófisis/diagnóstico , Tirotropina , Hormona Liberadora de Tirotropina/análisis , Hormona Liberadora de Tirotropina/metabolismo , Tiroxina/análisis , Tiroxina/metabolismo
16.
Vet J ; 300-302: 106035, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37802466

RESUMEN

Pituitary pars intermedia dysfunction (PPID) is an age-related neurodegenerative disorder, affecting >20 % of older horses. There is a need for improved endocrine tests for early disease detection, and the thyrotropin-releasing hormone (TRH) stimulation test has been recommended for diagnosis of early or mild cases. However, it is currently not recommended for year-round use due to marked seasonal variability. The aims of this cohort study were to evaluate effects of month and season on adrenocorticotropic hormone (ACTH) responses to TRH stimulation and to derive monthly cut-offs for PPID diagnosis. Sixty-three horses were assigned to control (n = 17), subclinical PPID (n = 21) and clinical PPID (n = 25) groups, based on a composite reference standard that combined clinical history and examination findings with endocrine test results. TRH stimulation tests were performed monthly for a 12-month period. Circannual changes were evaluated with one- and two-way repeated-measures analysis of variance and receiver operating characteristic curve analysis was used to derive cut-off values for basal and TRH-stimulated ACTH. TRH-stimulated ACTH concentrations were lowest in February-May and highest in August-October. Specificity of both basal and 30 min post-TRH ACTH was generally higher than sensitivity, and TRH stimulation had improved diagnostic accuracy compared to basal ACTH, although its sensitivity was not significantly greater year-round. TRH stimulation tests yielded considerably more positive results than basal ACTH in the subclinical group, but few additional positive results in clinical PPID cases. There were large differences between cut-offs that maximised sensitivity or specificity for TRH-stimulated ACTH, highlighting the importance of considering clinical presentation alongside test results in diagnostic decision-making.


Asunto(s)
Enfermedades de los Caballos , Enfermedades de la Hipófisis , Adenohipófisis Porción Intermedia , Caballos , Animales , Hormona Adrenocorticotrópica/farmacología , Hormona Liberadora de Tirotropina/farmacología , Estaciones del Año , Estudios de Cohortes , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/veterinaria , Adenohipófisis Porción Intermedia/metabolismo , Enfermedades de los Caballos/diagnóstico
18.
Orphanet J Rare Dis ; 18(1): 165, 2023 06 26.
Artículo en Inglés | MEDLINE | ID: mdl-37365629

RESUMEN

BACKGROUND: Pituitary abscess (PA) is a rare condition and not well understood. We aimed to describe a case and perform a comprehensive systematic review to explore presenting symptoms, radiological findings, endocrine abnormalities and mortality. AIM: To identify presenting symptoms, radiological findings, endocrinological abnormalities and predictors of mortality for PA. METHODS: We systematically reviewed the literature to identify all case reports of PA. Data regarding presentation, mortality, radiological findings, endocrinological abnormalities and treatment was extracted. RESULTS: We identified 488 patients from 218 articles meeting the inclusion criteria. Mortality was 5.1%, with days to presentation (OR 1.0005, 95% CI 1.0001-1.0008, p < 0.01) being the only identified independent predictor of mortality. Mortality rates have decreased over time, with cases published prior to 2000 having higher mortality rates (OR 6.92, 95% CI 2.80-17.90, p < 0.001). The most common symptom was headache (76.2%), followed by visual field defects (47.3%). Classical signs of infection were only present in 43%. The most common imaging feature on magnetic resonance imaging (MRI) was high T2 and low T1 signal of the pituitary gland with peripheral contrast enhancement. Over half (54.8%) were culture negative, with the most common bacterial organism being staphylococcus aureus (7.8%) and fungal organism being aspergillus (8.8%). The most common endocrine abnormality was hypopituitarism (41.1%), followed by diabetes insipidus (24.8%). Whilst symptoms resolved in most patients, persistent endocrine abnormalities were present in over half of patients (61.0%). CONCLUSION: PA is associated with significant mortality, with delayed presentation increasing risk of mortality. Ongoing endocrinological abnormalities are common. Given the non-specific clinical presentation, the appearance of high T2, low T1 and peripheral contrast enhancement of the pituitary on MRI should prompt consideration of this rare disease.


Asunto(s)
Hipopituitarismo , Enfermedades de la Hipófisis , Neoplasias Hipofisarias , Humanos , Absceso/complicaciones , Enfermedades de la Hipófisis/complicaciones , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/microbiología , Hipopituitarismo/complicaciones , Neoplasias Hipofisarias/complicaciones , Imagen por Resonancia Magnética
19.
J Equine Vet Sci ; 124: 104491, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37236726

RESUMEN

Equine endocrine disease is an important area for equine research, requiring an appropriate case definition for inclusion and criteria for exclusion from disease. Defining a case for research may be different from criteria for clinical diagnosis. Further, clinical diagnosis recommendations have been changing regularly, making this area challenging for equine scientists. This review discusses the diagnosis of major equine endocrine diseases, pituitary pars intermedia dysfunction, equine metabolic syndrome and insulin dysregulation, focusing on the most appropriate diagnostic methods for research case definitions. Different diagnostic methods, including use of reference intervals and clinical decision limits, will be discussed with their relative merits for use in case definition for research.


Asunto(s)
Enfermedades del Sistema Endocrino , Enfermedades de los Caballos , Síndrome Metabólico , Enfermedades de la Hipófisis , Caballos , Animales , Enfermedades del Sistema Endocrino/diagnóstico , Enfermedades del Sistema Endocrino/veterinaria , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/terapia , Enfermedades de la Hipófisis/veterinaria , Síndrome Metabólico/veterinaria , Enfermedades de los Caballos/diagnóstico , Insulina
20.
Neuropathology ; 43(6): 496-499, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37254443

RESUMEN

Tuberculosis of the hypothalamo-pituitary axis is extremely uncommon. The presentation of panhypopituitarism in a case of sellar tuberculosis is an even rarer occurrence. We present a case of a 44-year-old man who presented with complaints of headache and right-sided diminution of vision for six months. A hormone profile showed abnormal anterior pituitary assay suggestive of panhypopituitarism. Magnetic Resonance imaging of the brain showed a sellar mass measuring 1.8 × 1.5 × 1.3 cm with suprasellar extension suggestive of a pituitary adenoma. Histopathological examination showed multiple epithelioid cell granulomas along with Langhans giant cells and mixed inflammatory infiltrates against a necrotic background. Zeihl Neelson stain demonstrated the presence of acid-fast bacilli. Thus, a final diagnosis of pituitary tuberculoma was made, and the patient started on antitubercular therapy. It is extremely important to correctly diagnose sellar tuberculosis as the treatment is entirely different, and the patient usually responds well to therapy.


Asunto(s)
Adenoma , Hipopituitarismo , Enfermedades de la Hipófisis , Neoplasias Hipofisarias , Tuberculoma , Masculino , Humanos , Adulto , Neoplasias Hipofisarias/diagnóstico , Enfermedades de la Hipófisis/diagnóstico , Enfermedades de la Hipófisis/patología , Hipopituitarismo/diagnóstico , Tuberculoma/diagnóstico , Tuberculoma/patología , Imagen por Resonancia Magnética , Adenoma/diagnóstico
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