Adenoma hipofisario asociado a feocromocitoma/paraganglioma: una nueva forma de neoplasia endocrina múltiple / Pituitary adenoma associated with pheochromocytoma/paraganglioma: a new form of multiple endocrine neoplasia

No disponible

Apoplejía hipofisaria inducida por triptorelina en paciente con cáncer de próstata / Pituitary apoplexy induced by triptorelin in patient with prostate cancer

No disponible

Enfermedad de Kennedy y resistencia parcial androgénica. Descripción de 4 casos y revisión de la literatura / Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review

La enfermedad de Kennedy o atrofia muscular espino-bulbar es un trastorno neurodegenerativo raro de herencia recesiva ligada al cromosoma X que afecta a varones en la edad adulta. Está causado por la expansión repetida de la secuencia citosina-adenosina-guanina en el exón 1 del gen del receptor androgénico localizado en el cromosoma Xq11-12, y se caracteriza por la degeneración progresiva de las neuronas motoras espinales. Desde el punto de vista endocrinológico es común encontrar en estos pacientes datos de hipogonadismo englobados en el síndrome de resistencia androgénica, particularmente la forma parcial. Se describen 4 casos con presentación clínica neurológica típica de la enfermedad, con debilidad muscular generalizada lentamente progresiva con atrofia y afectación de musculatura bulbar; entre las manifestaciones endocrinológicas observadas la ginecomastia fue la más frecuente. El estudio molecular mostró una expansión anormal del triplete citosina-adenosina-guanina en el gen del receptor androgénico en todos los casos

Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X -linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene

Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.

Alteraciones endocrinas en las histiocitosis de la región hipotálamo hipofisaria / Endocrine changes in histiocytosis of the hypothalamic-pituitary axis

Las histiocitosis son cuadros caracterizados por la proliferación de células del sistema mononuclear fagocítico. Incluyen la histiocitosis de células de Langerhans (HCL) y las histiocitosis de células no Langerhans (entre ellas la enfermedad de Chester-Erdheim [ECE]). Aunque la diabetes insípida (DI) es la alteración hipotálamo hipofisaria (HH) más frecuente, están menos estudiados los déficits hipofisarios anteriores. Se analiza la frecuencia y la progresión de los déficits hormonales hipofisarios y los hallazgos radiológicos de 9 pacientes (7 HCL y 2 ECE) con afectación de la región HH. El 89% de los pacientes presentaba DI (62% al diagnóstico) y el 78%, uno o más déficits anteriores (71% al diagnóstico). Dado que la afectación HH es relativamente frecuente en pacientes con diagnóstico de histiocitosis y que los déficits hormonales pueden estar presentes al diagnóstico o aparecer de forma paulatina durante el curso de la enfermedad, es recomendable monitorizar de manera regular a este tipo de pacientes

Histiocytosis is characterized by proliferation of cells from the mononuclear phagocyte system, and may be divided into Langerhans cell histiocytosis (LCH) and non-Langerhans cell histiocytosis (including Erdheim-Chester disease [ECD]). While diabetes insipidus (DI) is the most common hypothalamic-pituitary consequence, anterior pituitary deficiencies are less known. This study analyzed the frequency and progression of pituitary hormone deficiencies and the radiographic findings in 9 patients (7 with LCH and 2 with ECD) with hypothalamic-pituitary (HP) axis. Eighty-nine percent of patients had DI (62% at diagnosis), and 78% had one or more anterior pituitary deficiencies (71% at diagnosis). HP involvement is relatively common in patients diagnosed with histiocytosis and hormone deficiencies may be present at diagnosis or appear gradually during the course of disease. Regular monitoring of these patients is recommended

Síndrome de hipoglucemia autoinmune asociado al consumo de ácido α lipoico / Autoimmune hypoglycemia syndrome associated with α lipoic acid consumption

No disponible

Endocrine changes in histiocytosis of the hypothalamic-pituitary axis.

Histiocytosis is characterized by proliferation of cells from the mononuclear phagocyte system, and may be divided into Langerhans cell histiocytosis (LCH) and non-Langerhans cell histiocytosis (including Erdheim-Chester disease [ECD]). While diabetes insipidus (DI) is the most common hypothalamic-pituitary consequence, anterior pituitary deficiencies are less known. This study analyzed the frequency and progression of pituitary hormone deficiencies and the radiographic findings in 9 patients (7 with LCH and 2 with ECD) with hypothalamic-pituitary (HP) axis. Eighty-nine percent of patients had DI (62% at diagnosis), and 78% had one or more anterior pituitary deficiencies (71% at diagnosis). HP involvement is relatively common in patients diagnosed with histiocytosis and hormone deficiencies may be present at diagnosis or appear gradually during the course of disease. Regular monitoring of these patients is recommended.

Prognostic factors and long-term outcome of pancreatic neuroendocrine neoplasms: Ki-67 index shows a greater impact on survival than disease stage. The large experience of the Spanish National Tumor Registry (RGETNE).

INTRODUCTION: Pancreatic neuroendocrine neoplasms (PNENs) are uncommon neoplasms with a wide spectrum of clinical behavior. The objective of this study was to assess in a large cohort of patients the relative impact of prognostic factors on survival. METHODS: From June 2001 through October 2010, 1,271 patients were prospectively registered online (www.getne.org) at the Spanish National Cancer Registry for Gastroenteropancreatic Neuroendocrine Tumors (RGETNE) by participating centers. Clinical and histopathological features were assessed as potential prognostic factors by uni- and multivariate analyses. RESULTS: Of 483 PNENs, 171 (35%) were functional (F) and 312 (65%) non-functional (NF). NF-PNENs were associated with a higher incidence of histological features denoting more aggressive disease, such as poor tumor differentiation, Ki-67 >20%, or vascular invasion (NF- vs. F-PNENs, respectively, p < 0.05). Nevertheless, functionality was not a significant predictor of survival (p = 0.19). Stage at diagnosis, Ki-67 index, tumor differentiation and surgical resection of the primary tumor were all significant prognostic factors in univariate analysis. However, Ki-67 (>20 vs. ≤2%) (hazard ratio (HR) 2.21, p = 0.01) and surgical resection (yes vs. no) (HR 0.92, p = 0.001) were the only independent predictors of survival in multivariate analysis. Among patients who underwent surgery, high Ki-67 index (HR 10.37, p = 0.02) and poor differentiation (HR 8.16, p = 0.03) were the only independent predictors of clinical outcome. CONCLUSION: Ki-67 index and tumor differentiation are key prognostic factors influencing survival of patients with PNENs and, in contrast to what it is observed for other solid malignancies, they seem to have a greater impact on survival than the extent of disease. This should be borne in mind by physicians in order to appropriately tailor therapeutic strategies and surveillance of these patients.

Clinical practice guideline for hypotalamic-pituitary disturbances in pregnancy and the postpartum period.

During pregnancy, the body undergoes a major adaptation process as a result of the interaction between mother, placenta and fetus. Major anatomical and histological changes are produced in the pituitary, with an increase of up to 40% in the size of the gland. There are wide variations in the function of the hypothalamus-pituitary-thyroid axis that effect iodine balance, the overall activity of the gland, as well as transport of thyroid hormones in plasma and peripheral metabolism of thyroid hormones. The incidence of goiter and thyroid nodules increases throughout pregnancy. The management of differentiated thyroid carcinoma should be individually tailored according to tumoral type and pregnancy stage. Given the effects of hypothyroidism on fetal development, both the diagnosis and appropriate therapeutic management of thyroid hypofunction are essential. The most important modification to the hypothalamus-pituitary-adrenal axis during pregnancy is the rise in serum cortisol levels due to an increase in cortisol-binding proteins. Although Cushing's syndrome during pregnancy is infrequent, both diagnosis and treatment of this disorder are especially difficult. Adrenal insufficiency during pregnancy does not substantially differ from that occurring outside pregnancy. However, postpartum pituitary necrosis (Sheehan's syndrome) is a well-known complication that occurs after delivery and, together with lymphocytic hypophysitis, constitutes the most frequent cause of adrenal insufficiency. The management of prolactinoma during pregnancy requires suppression of dopaminergic agonists and their reintroduction if there is tumoral growth. Notable among the neuropituitary disorders that can occur throughout pregnancy is diabetes insipidus, which occurs as a consequence of increased vasopressinase activity.

Clinical practice guideline for the diagnosis and treatment of hypophysitis.

Hypophysitis are a group of inflammatory lesions affecting the pituitary gland and pituitary stalk. These lesions should be included in the differential diagnosis of sellar masses. There are three types of primary hypophysitis: lymphocytic, granulomatous and xanthomatous. Lymphocytic hypophysitis is the most frequent form of chronic pituitary inflammation and is believed to have an autoimmune origin. This form characteristically affects women during the peripartum, with diverse types of pituitary deficiency, especially ACTH deficiency, and frequently there are other associated autoimmune processes. Lymphocytic hypophysitis can affect the anterior pituitary only, the infundibular stalk and posterior lobe of the pituitary (infundibuloneurohypophysitis), or the entire pituitary (panhypophysitis). Clinically, lymphocytic hypophysitis can manifest with compression symptoms, hypopituitarism, diabetes insipidus or hyperprolactinemia. The imaging technique of choice is magnetic resonance imaging, which helps to characterize the sellar lesion. Treatment includes replacement of the functional pituitary deficiency and the use of corticosteroids, generally at high doses. Surgical treatment is reserved for patients unresponsive to conservative therapy. Granulomatous hypophysitis can be of known etiology, whether infectious (currently highly infrequent) or non-infectious (ruptured Rathke's cyst, etc.). Granulomatous hypophysitis of unknown etiology is manifested by the presence of idiopathic granulomas. Xanthomatous hypophysitis is characterized by a histiocytic infiltrate with cystic characteristics on imaging. Secondary hypophysitis is due to pituitary inflammation caused by surrounding lesions or can form part of systemic diseases.

Guía clínica del diagnóstico y tratamiento del craneofaringioma y otras lesiones paraselares / Clinical practice guideline for the diagnosis and treatment of craniopharyngioma and other parasellar lesions

El craneofaringioma es un tumor, con frecuencia quístico, habitualmente supraselar, que deriva de restos de células embrionarias de la bolsa de Rathke. Si bien es un tumor benigno, tiene un comportamiento agresivo con frecuentes secuelas neurológicas y endocrinas. Presenta dos picos de aparición: en la edad infantil y en adultos añosos. La clínica depende de la localización, el tamaño, el potencial de crecimiento y la edad de presentación. Clínicamente suele aparecer como una combinación de signos y síntomas de hipertensión intracraneal, alteraciones visuales, deficiencias hormonales y disfunción hipotalámica. Si la lesión es intraselar la clínica puede remedar a la de un adenoma hipofisario. Las técnicas de neuroimagen, especialmente la resonancia magnética, permiten caracterizar la lesión. La apariencia varía dependiendo de la proporción del componente sólido y quístico, de las posibles calcificaciones y de la composición de un eventual quiste. Antes del abordaje terapéutico debe efectuarse una completa evaluación endocrinológica y oftalmológica. Las opciones terapéuticas incluyen cirugía, radioterapia y una combinación de ambas. La extensión óptima de la cirugía es motivo de controversia. Actualmente se prefiere una aproximación más conservadora que combina una cirugía menos agresiva con radioterapia. La radioterapia sin cirugía únicamente es aplicable a los pacientes con tumores muy pequeños. Otras aproximaciones incluyen: aspiración intermitente mediante punción esterotáxica, colocación de un reservorio, esclerosis de las paredes del quiste mediante fármacos, o irradiación interna con radioisótopos. Las lesiones paraselares son lesiones de muy baja prevalencia y pueden ser, entre otros tumores, aneurismas, quistes o granulomas. Las técnicas de neuroimagen, tanto la tomografía computarizada como la resonancia magnética, son útiles para precisar las características de la lesión (AU)

Craniopharyngiomas are often cystic tumors, usually suprasellar, resulting from embryonic cell remnants of Rathke’s pouch. Although benign, these tumors can be aggressive and frequently have neurological and endocrinological sequelae. Craniopharyngiomas usually develop in children or in the elderly. Symptoms depend on localization, size, potential for growth, and age of onset. Clinically, craniopharyngiomas usually manifest with a combination of symptoms and signs of intracranial hypertension, visual alterations, hormone deficiencies, and hypothalamic dysfunction. Intracellular lesions can mimic pituitary adenoma. Neuroimaging techniques, especially magnetic resonance imaging, allow these lesions to be characterized. Their appearance varies depending on the proportion of solid and cystic components, on the possible calcifications, and on the composition of an eventual cyst. Complete endocrinological and ophthalmological evaluation should be performed before establishing the therapeutic approach. The therapeutic options include surgery, radiotherapy, and a combination of both. The optimal extension of surgery is controversial. Currently, a conservative approach combining less aggressive surgery with radiotherapy is preferred. Radiotherapy without surgery is only applicable in patients with very small tumors. Other approaches include intermittent aspiration by stereotactic puncture, placement of a reservoir, cystic wall sclerosis through drugs, or internal radiation with radioisotopes. Parasellar lesions have a very low prevalence and can consist of cystic aneurysms or granulomas, among other tumors. Neuroimaging techniques, both computed tomography and MRI, are useful for characterizing the lesion (AU)