ABSTRACT
PURPOSE: To determine the rate of genetic testing for familial hyperaldosteronism (FH) in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed. METHODS: A retrospective multicenter study of primary aldosteronism (PA) in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry). RESULTS: Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available in only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 9 genetically studied cases were quite heterogeneous. A positive result for FH was found only in one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I; 12 articles reporting 72 patients with FH type II; 14 articles reporting 29 cases of FH type III and 3 articles reporting 12 patients with FH type IV. CONCLUSION: The genetic study of familial hyperaldosteronism is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases might be studied.
ABSTRACT
AIM: To investigate the impact of pituitary surgery on glucose metabolism and to identify predictors of remission of diabetes after pituitary surgery in patients with acromegaly. METHODS: A national multicenter retrospective study of patients with acromegaly undergoing transsphenoidal surgery for the first time at 33 tertiary Spanish hospitals (ACRO-SPAIN study) was performed. Surgical remission of acromegaly was evaluated according to the 2000 and 2010 criteria. RESULTS: A total of 604 acromegaly patients were included in the study with a total median follow up of 91 months (interquartile range [IQR] 45-163). At the acromegaly diagnosis, 23.8% of the patients had diabetes mellitus (DM) with a median glycated hemoglobin (HbA1c) of 6.9% (IQR 6.4-7.9) [51.9 mmol/mol (IQR 46.4-62.8)]. In the multivariate analysis, older age (odds ratio [OR] 1.02, 95% CI 1.00-1.05), dyslipidemia (OR 5.25, 95% CI 2.81 to 9.79), arthropathy (OR 1.39, 95% CI 2.82 to 9.79), and higher IGF-I levels (OR 1.30, 95% CI 1.05 to 1.60) were associated with a greater prevalence of DM. At the last follow-up visit after surgery, 21.1% of the DM patients (56.7% of them with surgical remission of acromegaly) experienced diabetes remission. The cure rate of DM was more common in older patients (hazard ratio [HR] 1.77, 95% CI 1.31 to 2.43), when surgical cure was achieved (HR 2.10, 95% CI 1.01 to 4.37) and when anterior pituitary function was not affected after surgery (HR 3.38, 95% CI 1.17 to 9.75). CONCLUSION: Glucose metabolism improved in patients with acromegaly after surgery and 21% of the diabetic patients experienced diabetes remission; being more frequent in patients of older age, and those who experienced surgical cure and those with preserved anterior pituitary function after surgery.
ABSTRACT
The objective of the study was to evaluate the efficacy of second-line therapies in patients with acromegaly caused by a growth hormone (GH) and prolactin (PRL) co-secreting pituitary neuroendocrine tumor (GH&PRL-Pit-NET) compared to their efficacy in patients with acromegaly caused by a GH-secreting pituitary neuroendocrine tumor (GH-Pit-NET). This is a multicenter retrospective study of patients with acromegaly on treatment with pasireotide and/or pegvisomant. Patients were classified in two groups: GH&PRL-Pit-NETs when evidence of hyperprolactinemia and immunohistochemistry (IHC) for GH and PRL was positive or if PRL were >200 ng/dL regardless of the PRL-IHC and GH-Pit-NETs when the previously mentioned criteria were not met. A total of 28 cases with GH&PRL-Pit-NETs and 122 with GH-Pit-NETs met the inclusion criteria. GH&PRL-Pit-NETs presented at a younger age, caused hypopituitarism, and were invasive more frequently than GH-Pit-NETs. There were 124 patients treated with pegvisomant and 49 with pasireotide at any time. The efficacy of pegvisomant for IGF-1 normalization was of 81.5% and of pasireotide of 71.4%. No differences in IGF-1 control with pasireotide and with pegvisomant were observed between GH&PRL-Pit-NETs and GH-Pit-NETs. All GH&PRL-Pit-NET cases treated with pasireotide (n = 6) and 82.6% (n = 19/23) of the cases treated with pegvisomant normalized PRL levels. No differences in the rate of IGF-1 control between pegvisomant and pasireotide were detected in patients with GH&PRL-Pit-NETs (84.9% vs 66.7%, P = 0.178). We conclude that despite the more aggressive behavior of GH&PRL-Pit-NETs than GH-Pit-NETs, no differences in the rate of IGF-1 control with pegvisomant and pasireotide were observed between both groups, and both drugs have shown to be effective treatments to control IGF-1 and PRL hypersecretion in these tumors.
Subject(s)
Acromegaly , Human Growth Hormone , Neuroendocrine Tumors , Prolactin , Somatostatin , Humans , Somatostatin/analogs & derivatives , Somatostatin/therapeutic use , Male , Female , Human Growth Hormone/analogs & derivatives , Human Growth Hormone/therapeutic use , Middle Aged , Adult , Prolactin/blood , Prolactin/metabolism , Retrospective Studies , Neuroendocrine Tumors/drug therapy , Neuroendocrine Tumors/metabolism , Acromegaly/drug therapy , Acromegaly/metabolism , Pituitary Neoplasms/drug therapy , Pituitary Neoplasms/metabolism , Aged , Young AdultABSTRACT
PURPOSE: To evaluate differences in clinical presentation and in surgical outcomes between growth hormone-secreting pituitary adenomas (GH-PAs) and GH and prolactin co-secreting pituitary adenomas (GH&PRL-PAs). METHODS: Multicenter retrospective study of 604 patients with acromegaly submitted to pituitary surgery. Patients were classified into two groups according to serum PRL levels at diagnosis and immunohistochemistry (IHC) for PRL: a) GH&PRL-PAs when PRL levels were above the upper limit of normal and IHC for GH and PRL was positive or PRL levels were >100ng/and PRL IHC was not available (n=130) and b) GH-PAs who did not meet the previously mentioned criteria (n=474). RESULTS: GH&PRL-PAs represented 21.5% (n=130) of patients with acromegaly. The mean age at diagnosis was lower in GH&PRL-PAs than in GH-PAs (P<0.001). GH&PRL-PAs were more frequently macroadenomas (90.6% vs. 77.4%, P=0.001) and tended to be more invasive (33.6% vs. 24.7%, P=0.057) than GH-PAs. Furthermore, they had presurgical hypopituitarism more frequently (OR 2.8, 95% CI 1.83-4.38). IGF-1 upper limit of normality (ULN) levels at diagnosis were lower in patients with GH&PRL-PAs (median 2.4 [IQR 1.73-3.29] vs. 2.7 [IQR 1.91-3.67], P=0.023). There were no differences in the immediate (41.1% vs 43.3%, P=0.659) or long-term post-surgical acromegaly biochemical cure rate (53.5% vs. 53.1%, P=0.936) between groups. However, there was a higher incidence of permanent arginine-vasopressin deficiency (AVP-D) (7.3% vs. 2.4%, P=0.011) in GH&PRL-PAs patients. CONCLUSIONS: GH&PRL-PAs are responsible for 20% of acromegaly cases. These tumors are more invasive, larger and cause hypopituitarism more frequently than GH-PAs and are diagnosed at an earlier age. The biochemical cure rate is similar between both groups, but patients with GH&PRL-PAs tend to develop permanent postsurgical AVP-D more frequently.
ABSTRACT
Llamamos nódulo tiroideo a aquella lesión concreta palpable o radiológicamente distinguible del parénquima tiroideo. La enfermedad nodular tiroidea tiene una prevalencia progresivamente creciente a medida que ha mejorado la calidad de las técnicas de imagen, principalmente la ecografía. El objetivo de la presente revisión es señalar cuales son los pasos en la evaluación endocrinológica del paciente con enfermedad nodular tiroidea. Más concretamente, cual es la mejor estrategia coste/efectiva para diagnosticar los nódulos tiroideos malignos. Tras una buena anamnesis y exploración clínica, el estudio se completa con una determinación de TSH y la realización de una ecografía tiroidea, que es la prueba diagnóstica que más criterios aporta para poder hacer la indicación de PAAF. La muestra obtenida se estudiará según el sistema Bethesda
Thyroid nodule is defined as a palpable lesion o radiologically distinguishable from thyroid parenchyma. Its prevalence is increasing with the improvement of the imagine techniques, mainly the ultrasonography. The aim of this review is to indicate the steps for the endocrinology evaluation of the patient with thyroid nodules, particularly to choose the best cost/effective strategy to diagnose the malignant thyroid nodules. After having the anamnesis and physical examination done, a TSH determination and an thyroid ultrasound are needed. The sample obtained will be studied according to the Bethesda system
Subject(s)
Humans , Pathology , Thyroid Diseases/diagnosis , Thyroid Diseases/pathology , Parathyroid Diseases/diagnosis , Parathyroid Diseases/pathology , Thyroid Diseases/classification , Parathyroid Diseases/classification , Thyroid Gland/anatomy & histology , Thyroid Gland/pathology , Parathyroid Glands/anatomy & histology , Parathyroid Glands/pathologyABSTRACT
El hipertiroidismo es una enfermedad común que afecta a un 0.2 % de la población en Europa. Aun siendo un síndrome, el tratamiento varía dependiendo de la causa. Los mecanismos patogénicos de cada una de las etiologías dictan la selección del tratamiento, siendo el hipertiroidismo un buen modelo de medicina de precisión, por cuanto una vez conocida la patogenia se personaliza el tratamiento. En este capítulo se considera el tratamiento de las causas más comunes como son la enfermedad de Graves-Basedow, el bocio multinodular y adenoma tóxico, causas menos frecuentes que incluyen diverso tipo de tiroiditis y causas raras como los tirotropinomas, e hipertiroidismo por patologías obstétricas y ginecológicas. Para el tratamiento médico de estas condiciones disponemos de un arsenal que incluye drogas antitiroideas, beta-bloqueadores, glucocorticoides, análogos de la somatostatina, agonistas dopaminérgicos, ácido iopanoico e, incluso, agentes antineoplásicos. El tratamiento con radioyodo es objeto de otro trabajo aparte
Hyperthyroidism is a rather common disease that affects 0.2 % of general population in Europe. There are many causes as well as various pathogenic mechanisms inducing a hypersecretion of thyroid hormones. Therefore, treatments are selected for each cause to obtain the highest therapeutic benefit. Is this chapter we consider the treatment of common causes such as Graves-disease, toxic multinodular goiter, toxic adenoma and other more infrequent entities such as several subtypes of thyroiditis and, finally, we briefly comment on rare cases of thyroid hyperfunction
Subject(s)
Humans , Hyperthyroidism/diagnosis , Hyperthyroidism/therapy , Graves Disease/diagnosis , Goiter/diagnosis , Thyroiditis/diagnosis , Thyroiditis/drug therapy , Struma Ovarii/diagnosis , Hyperthyroidism/epidemiology , Precision Medicine , Thyroiditis/etiology , Dipyrone/therapeutic use , Dopamine Agents/therapeutic useABSTRACT
El cáncer de tiroides es la neoplasia endocrina más frecuente. Su incidencia en los últimos años ha aumentado, requiriendo estrategias de vigilancia que garanticen un manejo individualizado y efectivo de los pacientes. El objetivo principal de la siguiente revisión es brindar pautas de seguimiento a corto y largo plazo, guiándonos por una adecuada estratificación de riesgo de los pacientes y reclasificación de su respuesta al tratamiento
Thyroid cancer is the most common endocrine neoplasia. Its incidence in recent years has increased, requiring surveillance strategies that guarantee individualized and effective patient management. The main objective of the following review is to provide short-term and long-term follow-up guidelines, guiding us through adequate stratification of patient risk and reclassification of their response to treatment
Subject(s)
Humans , Carcinoma/therapy , Thyroid Carcinoma, Anaplastic/therapy , Follow-Up Studies , Thyroid Neoplasms/prevention & control , Thyroid Neoplasms/therapy , Thyroid Neoplasms/classification , Thyroid Neoplasms/epidemiologyABSTRACT
En este trabajo se aporta la experiencia adquirida con el tratamiento con bombas de infusión subcutánea continua de insulina (ISCI) en 112 pacientes con diabetes mellitus a lo largo de 7 años, que previamente venían siendo tratados con múltiples dosis de insulina bolo-basal. MATERIAL Y MÉTODOS: Estudio retrospectivo observacional de 112 pacientes con diabetes mellitus, tratados antes con pauta de insulina bolo-basal y luego con ISCI, desde de 2005 a 2012 que recibieron educación diabética individualizada con un protocolo específico. Se estudiaron las siguientes variables: frecuencia porcentual de las distintas indicaciones autorizadas para aplicar este tratamiento; valor medio anual de HbA1c y de fructosamina el año anterior a la instauración del tratamiento con la bomba de insulina y en los 7 años siguientes de seguimiento; frecuencia y sintomatología de las hipoglucemias. RESULTADOS: La causa más común de indicación fue la diabetes inestable (74,1%), seguida de hipoglucemias graves, frecuentes o inadvertidas (44,6%). Otras indicaciones fueron: horarios de ingesta variables o imprevisibles por razones profesionales (20,2%), fenómeno del alba (15,7%), gestación (12,3%), requerimiento de dosis muy bajas de insulina (8,9%) y diabetes gestacional (0,9%). La HbA1c descendió entre 0,6 y 0,9%, en tanto que la fructosamina lo hizo entre 5,1 y 12,2%. El 9% de pacientes presentaron hipoglucemias semanales, el 24% cada 2 semanas y en el 48% fueron mensuales; el 19% no presentó hipoglucemias. Solo el 10% presentó síntomas neuroglucopénicos y en el 21% fueron asintomáticas. Las hipoglucemias fueron más frecuentes al comienzo del tratamiento, disminuyendo rápidamente poco tiempo después. CONCLUSIÓN: La terapia con ISCI proporciona una mejoría del control glucémico en comparación con tratamiento de múltiples inyecciones. Requiere adiestramiento específico del paciente y ajustes de la dosificación de insulina para prevenir las hipoglucemias, que son las complicaciones más frecuentes, sobre todo al comienzo del tratamiento
This work reports the experience with use of continuous subcutaneous insulin infusion (CSII) in 112 type 1 diabetic patients followed up for 7 years and previously treated with multiple daily insulin injections (MDII). MATERIAL AND METHODS: A retrospective, observational study in 112 patients with diabetes mellitus treated with CSII from 2005 to 2012, previously treated with MDII and receiving individualized diabetic education with a specific protocol. Variables analyzed included: prevalence of the different indications of pump treatment; mean annual HbA1c and fructosamine values before and after CSII treatment; and hypoglycemia frequency and symptoms. RESULTS: The most common reason for pump treatment was brittle diabetes (74.1%), followed by frequent or severe hypoglycemia or hypoglycemia unawareness (44.6%). Other indications were irregular food intake times for professional reasons (20.2%), dawn phenomenon (15.7%), pregnancy (12.3%), requirement of very low insulin doses (8.9%), and gestational diabetes (0.9%). HbA1c decreased by between 0.6% and 0.9%, and fructosamine by between 5.1% and 12.26%. Nine percent of patients experienced hypoglycemia weekly, 24% every two weeks, and 48% monthly. No hypoglycemia occurred in 19% of patients. Only 10% had neuroglycopenic symptoms. Hypoglycemia unawareness was found in 21%. Hypoglycemia was more common at treatment start, and its frequency rapidly decreased thereafter. CONCLUSIÓN: CSII therapy provides a better glycemic control than MDII treatment. Specific patient training and fine adjustment of insulin infusion doses are required to prevent hypoglycemic episodes, which are the most common complications, mainly at the start of treatment
Subject(s)
Humans , Insulin/administration & dosage , Diabetes Mellitus, Type 1/drug therapy , Hypoglycemia/prevention & control , Insulin Infusion Systems , Retrospective Studies , Diet, Diabetic , Glycemic IndexABSTRACT
Se entiende por periodo de transición del niño al adulto a una etapa de cambios físicos y psicológicos que, de forma arbitraria, se extiende desde el final de la pubertad hasta que la maduración adulta se completa. Comprende, habitualmente, los 6 a 7 años posteriores al momento en que el niño adquiere la talla adulta. Con esta documento pretendemos poner de manifiesto la importancia de la adecuada sustitución de los diferentes déficits hipotálamo-hipofisarios durante este período. Para ello revisamos la reevaluación del status hipofisario en los pacientes deficitarios durante la infancia, tratamos de dar respuesta a las preguntas que pueden surgir y ofrecemos unas recomendaciones claras de cómo abordar la deficiencia de GH en este período. Posteriormente abordamos también la evaluación y la sustitución del eje adrenal, tiroideo y gonadal
The transition period from child to adult represents a crucial phase in the growth process where multiple physical and psychosocial changes occur. It has been arbitrarily defined as the period extending from late puberty to full adult maturity (i.e., from mid to late teenage years until 6-7 years after achievement of final height).The aim of this guideline is to emphasize the importance of adequate hormone replacement during this period and to review reassessment of pituitary function. In patients with GH deficiency diagnosed in childhood, an attempt is made to answer when to retest GH secretion, when to treat and how they should be monitored. Thyroxine, glucocorticoid, and sex steroid replacement are also reviewed
Subject(s)
Humans , Male , Female , Child , Adult , Hypopituitarism/drug therapy , Adrenal Insufficiency/drug therapy , Child Development , Practice Patterns, Physicians' , Pituitary Hormone-Releasing Hormones , Hypothyroidism/drug therapyABSTRACT
The transition period from child to adult represents a crucial phase in the growth process where multiple physical and psychosocial changes occur. It has been arbitrarily defined as the period extending from late puberty to full adult maturity (i.e., from mid to late teenage years until 6-7 years after achievement of final height). The aim of this guideline is to emphasize the importance of adequate hormone replacement during this period and to review reassessment of pituitary function. In patients with GH deficiency diagnosed in childhood, an attempt is made to answer when to retest GH secretion, when to treat and how they should be monitored. Thyroxine, glucocorticoid, and sex steroid replacement are also reviewed.
Subject(s)
Hormone Replacement Therapy , Human Growth Hormone/therapeutic use , Hypopituitarism/drug therapy , Transition to Adult Care , Adolescent , Adult , Body Composition/drug effects , Child , Child Development/drug effects , Drug Monitoring , Endocrine System Diseases/drug therapy , Endocrine System Diseases/etiology , Female , Growth/drug effects , Growth Hormone-Releasing Hormone , Human Growth Hormone/administration & dosage , Human Growth Hormone/deficiency , Humans , Hypothalamo-Hypophyseal System/physiopathology , Male , Pituitary-Adrenal System/physiopathology , PubertyABSTRACT
UNLABELLED: This work reports the experience with use of continuous subcutaneous insulin infusion (CSII) in 112 type 1 diabetic patients followed up for 7 years and previously treated with multiple daily insulin injections (MDII). MATERIAL AND METHODS: A retrospective, observational study in 112 patients with diabetes mellitus treated with CSII from 2005 to 2012, previously treated with MDII and receiving individualized diabetic education with a specific protocol. Variables analyzed included: prevalence of the different indications of pump treatment; mean annual HbA1c and fructosamine values before and after CSII treatment; and hypoglycemia frequency and symptoms. RESULTS: The most common reason for pump treatment was brittle diabetes (74.1%), followed by frequent or severe hypoglycemia or hypoglycemia unawareness (44.6%). Other indications were irregular food intake times for professional reasons (20.2%), dawn phenomenon (15.7%), pregnancy (12.3%), requirement of very low insulin doses (8.9%), and gestational diabetes (0.9%). HbA1c decreased by between 0.6% and 0.9%, and fructosamine by between 5.1% and 12.26%. Nine percent of patients experienced hypoglycemia weekly, 24% every two weeks, and 48% monthly. No hypoglycemia occurred in 19% of patients. Only 10% had neuroglycopenic symptoms. Hypoglycemia unawareness was found in 21%. Hypoglycemia was more common at treatment start, and its frequency rapidly decreased thereafter. CONCLUSION: CSII therapy provides a better glycemic control than MDII treatment. Specific patient training and fine adjustment of insulin infusion doses are required to prevent hypoglycemic episodes, which are the most common complications, mainly at the start of treatment.
Subject(s)
Diabetes Mellitus, Type 1/drug therapy , Hypoglycemic Agents/administration & dosage , Insulin Infusion Systems , Insulin/administration & dosage , Adult , Humans , Infusions, Subcutaneous , Retrospective Studies , Time FactorsSubject(s)
Empty Sella Syndrome/complications , Hypogonadism/etiology , Adrenocorticotropic Hormone , Adult , Azoospermia/drug therapy , Azoospermia/etiology , Chorionic Gonadotropin/therapeutic use , Empty Sella Syndrome/diagnosis , Follicle Stimulating Hormone/deficiency , Humans , Hypogonadism/drug therapy , Libido , Luteinizing Hormone/deficiency , Magnetic Resonance Imaging , Male , Testosterone/deficiency , Testosterone/therapeutic useABSTRACT
We present 4 patients with Graves' disease who developed spontaneous hypothyroidism during follow-up. The two most plausible physiopathologic mechanisms for this development were progressive autoimmune-mediated destruction of the thyroid follicular epithelium and a predominance of blocking antibodies to the thyroid-stimulating hormone (TSH) receptor at the expense of stimulating antibodies in the same patient. Description of these patients not only illustrates the heterogeneous nature of this disease, but also the interrelation among its distinct clinical forms.
Subject(s)
Graves Disease/complications , Hypothyroidism/etiology , Adult , Aged , Autoantibodies/blood , Autoantibodies/immunology , Disease Progression , Female , Goiter/etiology , Graves Disease/blood , Graves Disease/drug therapy , Graves Disease/immunology , Graves Disease/physiopathology , Humans , Hypothyroidism/blood , Hypothyroidism/drug therapy , Hypothyroidism/immunology , Hypothyroidism/physiopathology , Immunoglobulins, Thyroid-Stimulating/blood , Immunoglobulins, Thyroid-Stimulating/immunology , Male , Methimazole/therapeutic use , Middle Aged , Receptors, Thyrotropin/immunology , Thyroid Hormones/blood , Thyrotoxicosis/etiology , Thyroxine/therapeutic useABSTRACT
Presentamos los casos de 4 pacientes con enfermedad de Graves- Basedow que, durante el curso de su proceso patológico, sufrieron hipotiroidismo espontáneo. Los dos mecanismos fisiopatológicos más probables para explicar esta evolución son la destrucción autoinmunitaria progresiva del epitelio folicular tiroideo y la predominancia de anticuerpos inhibidores de los receptores de tirotropina (TSH) frente a anticuerpos estimulantes en un mismo paciente con enfermedad de Graves-Basedow. La exposición de estos 4 casos ilustra la heterogeneidad de esta enfermedad, así como la interrelación de las distintas formas clínicas de la enfermedad tiroidea autoinmunitaria (AU)
We present 4 patients with Graves disease who developed spontaneous hypothyroidism during follow-up. The two most plausible physiopathologic mechanisms for this development were progressive autoimmune-mediated destruction of the thyroid follicular epithelium and a predominance of blocking antibodies to the thyroidstimulating hormone (TSH) receptor at the expense of stimulating antibodies in the same patient. Description of these patients not only illustrates the heterogeneous nature of this disease, but also the interrelation among its distinct clinical forms (AU)
Subject(s)
Humans , Hypothyroidism/complications , Graves Disease/complications , Receptors, Thyrotropin/antagonists & inhibitors , Thyroiditis, Autoimmune/metabolism , Thyroid Function TestsABSTRACT
CONTEXT: Insulinomas may be regarded as potentially malignant. A long follow-up period is needed to detect any possible recurrence, even if the initial diagnosis was of a benign insulinoma. CASE REPORT: We present the case of a 76-year-old woman with liver metastases due to a malignant insulinoma, which had been diagnosed as benign after its complete removal 9 years earlier. CONCLUSIONS: This case shows the difficulty of distinguishing between benign and malignant insulinomas when there is no initial evidence of metastases. This fact poses the need to conduct a long follow-up period in order to detect any possible recurrence even if the initial diagnosis was one of a benign insulinoma.