RESUMO
PURPOSE: To evaluate the prevalence of metabolic syndrome (MetS) and its components in adult hypopituitary patients. PATIENTS AND METHODS: Retrospective, cross-sectional analysis of a cohort of hypopituitary adult patients followed in a single reference center for pituitary diseases. MetS was defined by the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) criteria. Patients with 18 years or older, presenting two or more anterior pituitary deficiencies associated or not with diabetes insipidus (DI), were included, while patients with hypopituitarism due to Acromegaly or Cushing's disease were excluded. RESULTS: We studied 99 hypopituitary patients (52 males, mean age 50.1 ± 16.3 years, mean age at diagnosis 33.7 ± 17.6 years) who have been followed for a mean time of 15.9 ± 10.1 years. Hypothalamic-pituitary tumors and non-tumoral etiologies were observed in 53.4% and 46.6% of the cases, respectively. FSH/LH, GH, TSH, ACTH deficiency and DI was present in 99%, 98.6%, 96%, 81.8%, and 23.2%, respectively. The prevalence of MetS was 39.4% and was significantly higher in patients older than 50 years (p = 0.02), overweight/obese (p < 0.001), with hypopituitarism diagnosed in adult life (p = 0.02), who did not replace GH (p = 0.004) and in smokers (p = 0.007). In the logistic regression model, body mass index (BMI) and GH replacement were significantly associated with the presence of MetS. Reduced HDL cholesterol was the most prevalent component of MetS in hypopituitary patients. CONCLUSIONS: MetS is a common finding in adult hypopituitary patients, which is mainly influenced by increased BMI and untreated GH deficiency. Trial Registration number (Plataforma Brasil): CAAE 51008815.2.0000.0096 (May 31, 2017) .
Assuntos
Hormônio Adrenocorticotrópico/deficiência , Diabetes Insípido/epidemiologia , Dislipidemias/epidemiologia , Hormônio do Crescimento Humano/deficiência , Hipogonadismo/epidemiologia , Hipopituitarismo/epidemiologia , Síndrome Metabólica/epidemiologia , Obesidade/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , HDL-Colesterol/sangue , Estudos Transversais , Dislipidemias/sangue , Feminino , Humanos , Hipopituitarismo/sangue , Masculino , Síndrome Metabólica/sangue , Pessoa de Meia-Idade , Sobrepeso/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
INTRODUCCIÓN: La radioterapia, quimioterapia y la cirugía empleada en el tratamiento de los tumores cerebrales tienen efectos en el eje hipotálamo-hipofisario y pueden resultar en disfunción endocrina hasta en el 96% de los casos. PACIENTES Y MÉTODO: Estudio retrospectivo y descriptivo en pacientes diagnos ticados de meduloblastoma sometidos a tratamiento con quimio y radioterapia en los últimos 20 años en un hospital terciario. Se analizan variables edad, sexo, peso, talla, índice de masa corporal (IMC) al final del seguimiento, estadio de maduración sexual, niveles séricos de TSH y T4 libre, ACTH/cortisol e IGF-1, FSH, LH, estradiol, testosterona, perfil lipídico (colesterol total) y prueba de función dinámica de hormona de crecimiento. RESULTADOS: Muestra total de 23 pacientes. El déficit de hormona de crecimiento es la secuela más frecuente (82 %) seguido de disfunción ti roidea (44,8%) y disfunción puberal (24,1%). Solo se diagnosticó un caso de diabetes insípida y 2 casos de déficit de corticotrofina. CONCLUSIONES: El seguimiento a largo plazo de los supervivientes de meduloblastoma tratados con quimio y radioterapia revela una prevalencia muy alta de disfun ción endocrina, particularmente de deficiencia de hormona del crecimiento y de hipotiroidismo. Creemos oportuna la monitorización y el seguimiento a largo plazo de estos pacientes con el fin de garantizar un manejo terapéutico adecuado de aquellas disfunciones tratables.
INTRODUCTION: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases. PATIENTS Y METHOD: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test. RESULTS: Total sample of 23 patients. Growth hormone deficiency is the most frequent sequelae (82%) fo llowed by thyroid dysfunction (44.8%), and disorders of puberty (24.1%). Only one case of diabetes insipidus and two cases of corticotropin deficiency were diagnosed. CONCLUSIONS: Long-term follow- up of medulloblastoma survivors treated with chemo and radiotherapy reveals a very high prevalence of endocrine dysfunction, especially growth hormone deficiency and hypothyroidism. We believe that monitoring and long-term follow-up of these patients is necessary in order to ensure adequate therapeutic management of those treatable dysfunctions.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Neoplasias Cerebelares/terapia , Quimiorradioterapia/efeitos adversos , Meduloblastoma/terapia , Puberdade Precoce/etiologia , Doenças da Glândula Tireoide/etiologia , Neoplasias Cerebelares/sangue , Estudos Retrospectivos , Hormônio Adrenocorticotrópico/deficiência , Hormônio do Crescimento Humano/deficiência , Diabetes Insípido/etiologia , Doenças do Sistema Endócrino/etiologia , Sobrepeso/etiologia , Sobreviventes de Câncer , Hipogonadismo/etiologia , Meduloblastoma/sangueRESUMO
INTRODUCTION: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases. PATIENTS AND METHOD: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test. RESULTS: Total sample of 23 patients. Growth hormone deficiency is the most frequent sequelae (82%) fo llowed by thyroid dysfunction (44.8%), and disorders of puberty (24.1%). Only one case of diabetes insipidus and two cases of corticotropin deficiency were diagnosed. CONCLUSIONS: Long-term follow- up of medulloblastoma survivors treated with chemo and radiotherapy reveals a very high prevalence of endocrine dysfunction, especially growth hormone deficiency and hypothyroidism. We believe that monitoring and long-term follow-up of these patients is necessary in order to ensure adequate therapeutic management of those treatable dysfunctions.
Assuntos
Neoplasias Cerebelares/terapia , Quimiorradioterapia/efeitos adversos , Meduloblastoma/terapia , Hormônio Adrenocorticotrópico/deficiência , Sobreviventes de Câncer , Neoplasias Cerebelares/sangue , Criança , Pré-Escolar , Diabetes Insípido/etiologia , Doenças do Sistema Endócrino/etiologia , Feminino , Hormônio do Crescimento Humano/deficiência , Humanos , Hipogonadismo/etiologia , Masculino , Meduloblastoma/sangue , Sobrepeso/etiologia , Puberdade Precoce/etiologia , Estudos Retrospectivos , Doenças da Glândula Tireoide/etiologiaRESUMO
La adrenoleucodistrofia ligada al X (X-ALD), trastorno genético progresivo que afecta la sustancia blanca del SNC y la corteza suprarrenal, causa desde insuficiencia adrenal aislada y mielopatia lentamente progresiva hasta desmielinización cerebral devastadora. Presentamos un paciente masculino, 21 años de edad, tabaquista, con trastorno de la marcha de un año de evolución, paraparesia espástica e hiperreflexia en miembros inferiores. El análisis del líquido cefalorraquídeo (LCR) reveló proteinorraquia elevada, resultados negativos de bandas oligoclonales y virus Epstein Barr. Niveles de cortisol, ACTH, ácidos grasos de cadena muy larga en suero, fueron anormales. La RNM cerebral evidenció lesiones en sustancia blanca en región parietooccipital bilateral, comprometiendo el esplenio del cuerpo calloso, que realzaban con gadolinio. En RNM de columna cervical se observó lesión hiperintensa en secuencia T2 a nivel C7. Fue tratado con reemplazo adrenal. Presentamos un caso de X-ALD de inicio en adulto, con retraso en el diagnóstico debido a recursos limitados. Palabras claves: adrenoleucodistrofia ligada al X, paraparesia espástica, ácidos grasos de cadena muy larga, adrenomieloneuropatia
X- Linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder that affects CNS white matter and adrenal gland cortex, and causes from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. We present a 21 years old male patient, smoker, with one year history of gradually progressive trouble walking, unsteady gait, asymmetric spastic paraparesis, lower extremity deep tendon reflexes were increased. Cerebrospinal fluid (CSF) analysis revealed elevated CSF protein, CSF oligoclonal bands and Epstein Barr virus negative results. Basal cortisol, ACTH and very-long- chain fatty acids in plasma with abnormal results. All other laboratory tests were normal. Cerebral MRI showed parietooccipital white matter abnormalities involving the splenium of the callosum that enhanced with gadolinium. Cervical spinal cord MRI showed a short-segment T2 hyperintense lesion at C7. He was treated with adrenal replacement. We present a case of adult onset X-ALD and diagnostic delay owed to limited resources
Assuntos
Humanos , Masculino , Adulto Jovem , Doenças da Medula Espinal/diagnóstico , Sistema Nervoso Central , Hormônio Adrenocorticotrópico/deficiência , Paraparesia Espástica/patologia , Ácidos Graxos , Tendões , Vértebras Cervicais , Doenças Desmielinizantes , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Doenças Genéticas Inatas/diagnósticoRESUMO
Isolated ACTH deficiency (IAD) is a rare entity characterized by secondary adrenal insufficiency with low levels of serum cortisol, decreased production of ACTH, adequate secretion of other pituitary hormones and normal pituitary structure on radioimaging. The prevalence of IAD as a cause of secondary adrenal insufficiency has not been determined. Impairment of growth hormone (GH) secretion has been noted in 20 to 30% of patients with IAD which is normalized after glucocorticoid replacement. We report the case of a 50 years-old female with symptoms and laboratory results suggestive of adrenal insufficiency. Insulin tolerance test confirmed ACTH and growth hormone deficiency. The rest of the anterior pituitary hormones were normal. A pituitary MRI was unremarkable. Glucocorticoid replacement therapy started and eight months afterwards glucagon stimulation test revealed persistent ACTH deficiency but nor- mal growth hormone secretion. IAD can present with nonspecific symptoms and could be potentially fatal in an acute stressful period. Prompt recognition is essential to decrease morbidity and mortality.
Assuntos
Hormônio Adrenocorticotrópico/deficiência , Doenças do Sistema Endócrino/complicações , Doenças Genéticas Inatas/complicações , Glucocorticoides/administração & dosagem , Hormônio do Crescimento Humano/deficiência , Hipoglicemia/complicações , Resistência à Insulina , Doenças do Sistema Endócrino/diagnóstico , Feminino , Doenças Genéticas Inatas/diagnóstico , Terapia de Reposição Hormonal/métodos , Humanos , Hipoglicemia/diagnóstico , Pessoa de Meia-IdadeRESUMO
A 54-year-old woman came to our endocrinology clinics presenting with upper and lower extremity paresthesia, salt cravings, episodes of hypotension, fatigue and a long term history of depression. Physical exam was unremarkable. Cervical and brain MRI ordered by her neurologist three years ago revealed sella and pituitary normal in size, stable very small 3 mm pituitary incidentaloma and mild disc bulging. Basal pituitary hormonal screening showed low cortisol and ACTH levels. Insulin Tolerance Test and Glucagon Stimulation Test confirmed secondary ACTH deficiency with concomitant GH deficiency. In spite of medical counseling the patient refused glucocorticoid replacement. Due to the non-specific symptoms of this condition it remains a challenge to be diagnosed by clinicians. In conclusion: Our case shows that hormonal deficiencies may occur in small tumors less than 6 mm.
Assuntos
Adenoma/metabolismo , Hormônio Adrenocorticotrópico/deficiência , Hormônio do Crescimento Humano/deficiência , Hidrocortisona/deficiência , Hipopituitarismo/diagnóstico , Neoplasias Hipofisárias/metabolismo , Adenoma/patologia , Hormônio Adrenocorticotrópico/metabolismo , Feminino , Glucagon , Hormônio do Crescimento Humano/metabolismo , Humanos , Hidrocortisona/metabolismo , Hipopituitarismo/etiologia , Hipopituitarismo/fisiopatologia , Achados Incidentais , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias Hipofisárias/patologia , Sistema Hipófise-Suprarrenal/fisiopatologia , Avaliação de Sintomas , Recusa do Paciente ao Tratamento , Carga TumoralRESUMO
BACKGROUND: Children initially diagnosed with isolated GH deficiency (IGHD) have a variable rate to progress to combined pituitary hormone deficiency (CPHD) during follow-up. OBJECTIVE: To evaluate the development of CPHD in a group of childhood-onset IGHD followed at a single tertiary center over a long period of time. PATIENTS AND METHODS: We retrospectively analyzed data from 83 patients initially diagnosed as IGHD with a mean follow-up of 15.2 years. The Kaplan-Meier method and Cox regression analysis was used to estimate the temporal progression and to identify risk factors to development of CPHD over time. RESULTS: From 83 patients initially with IGHD, 37 (45%) developed CPHD after a median time of follow up of 5.4 years (range from 1.2 to 21 years). LH and FSH deficiencies were the most common pituitary hormone (38%) deficiencies developed followed by TSH (31%), ACTH (12%) and ADH deficiency (5%). ADH deficiency (3.1 ± 1 years from GHD diagnosis) presented earlier and ACTH deficiency (9.3 ± 3.5 years) presented later during follow up compared to LH/FSH (8.3 ± 4 years) and TSH (7.5 ± 5.6 years) deficiencies. In a Cox regression model, pituitary stalk abnormalities was the strongest risk factor for the development of CPHD (hazard ratio of 3.28; p = 0.002). CONCLUSION: Our study indicated a high frequency of development of CPHD in patients initially diagnosed as IGHD at childhood. Half of our patients with IGHD developed the second hormone deficiency after 5 years of diagnosis, reinforcing the need for lifelong monitoring of pituitary function in these patients.
Assuntos
Hormônio Adrenocorticotrópico/deficiência , Nanismo Hipofisário/epidemiologia , Hormônio Foliculoestimulante/deficiência , Hormônio do Crescimento Humano/deficiência , Hipopituitarismo/epidemiologia , Hormônio Luteinizante/deficiência , Tireotropina/deficiência , Vasopressinas/deficiência , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , Feminino , Seguimentos , Humanos , Hipopituitarismo/patologia , Hipotálamo/patologia , Estimativa de Kaplan-Meier , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Hipófise/patologia , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Tempo , Adulto JovemAssuntos
Lesões Encefálicas/complicações , Hipopituitarismo/etiologia , Hipófise/lesões , Hormônio Adrenocorticotrópico/deficiência , Encéfalo/patologia , Lesões Encefálicas/epidemiologia , Criança , Diagnóstico por Imagem , Escala de Coma de Glasgow , Hormônio do Crescimento/deficiência , Humanos , Hipopituitarismo/epidemiologia , Incidência , Escala de Gravidade do Ferimento , Admissão do Paciente/estatística & dados numéricos , Hipófise/anatomia & histologia , PrevalênciaRESUMO
An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and primary adrenal insufficiency. Chronic lactic acidosis responded to treatment with dichloroacetate. Sequential muscle biopsies demonstrated resolution of the lipid storage myopathy associated with the return to normal muscle free carnitine levels. This case demonstrates a new clinical phenotype associated with a defect in oxidative phosphorylation and the need to consider mitochondrial disorders in the differential diagnosis of primary adrenal insufficiency in childhood.
Assuntos
Acidose Láctica/metabolismo , Hormônio Adrenocorticotrópico/deficiência , Erros Inatos do Metabolismo Lipídico/metabolismo , Mitocôndrias Musculares/metabolismo , Fosforilação Oxidativa , Acidose Láctica/complicações , Acidose Láctica/tratamento farmacológico , Catarata/complicações , Ácido Dicloroacético/uso terapêutico , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/complicações , FenótipoRESUMO
Se realizo una actualizacion tematica sobre la hipofisitis linfocitica, entidad infrecuente que afecta, principalmente, a mujeres embarazadas o en el periodo posparto. Se considera un desorden caracterizado por inflamacion cronica y destruccion de la hipofisis, que puede causar una muerte subita por la hipocortisolemia secundaria a la afectacion del eje hipotalamo-hipofiso-adrenal. En el cuadro clinico inicial, la cefalea y los trastornos visuales, con silla turca agrandada, pueden conducir al diangostico erroneo de adenoma hipofisario no funcionante, por lo cual es importante el diagnostico diferencial, para no someter a las enfermas a una intervencion quirurgica innecesaria. La funcion endocrina puede variar desde la normalidad hasta el panhipopituitarismo, mientras que en su patogenia, no completamente definida, se sugiere la causa autoinmune. Se senala la posibilidad de ocurrencia subclinica, asi como una atrayente hipotesis para explicar la presencia de silla turca vacia en mujeres multiparas. Se concluye que no siempre es necesaria la intervencion quirurgica y que se deben estudiar las pacientes mediante examenes de campos visuales y tomografia computarizada cada 4 o 6 meses, con evaluacion de la funcion adenohipofisaria entre 6 y 12 meses despues de las primeras manifestaciones
Assuntos
Humanos , Hormônio Adrenocorticotrópico/deficiência , Hipopituitarismo/imunologia , Doenças da Hipófise/imunologia , Período Pós-Parto/metabolismo , Complicações na Gravidez/metabolismo , Terceiro Trimestre da Gravidez , Síndrome da Sela Vazia/metabolismo , Tomografia Computadorizada por Raios X , Campos Visuais/fisiologiaRESUMO
Two hundred children 7 to 14 years of age with isolated cleft defects of the lip, palate, or both were surveyed for stature. Twelve percent were less than the third percentile in height and were designated "short." All of the short children received an endocrine evaluation. Endogenous growth hormone was examined after two days' pretreatment with stilbesteral. Four of the 25 short children with CLP had total, and four had partial, GH deficiency. Three of the GH-deficient patients were also deficient in ACTH or TSH. In contrast, in a series of 75 short (less than third percentile) children 7 to 14 years of age without cleft defect or other apparent congenital abnormality, only two had total and two had partial GH deficiency. The data suggest that children with isolated CLP have short stature about four times more often, and GH-deficiency about 40 times more often, than children without CLP. The increased prevalence of GH-deficiency may stem from the embryologic relation of adenohypophysis and oral ectoderm.
Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Hormônio do Crescimento/deficiência , Adolescente , Hormônio Adrenocorticotrópico/deficiência , Criança , Feminino , Transtornos do Crescimento/etiologia , Humanos , Masculino , Adeno-Hipófise/embriologia , Tireotropina/deficiênciaRESUMO
Sexual precocity in association with abnormalities of the central nervous system is well known, but its occurrence with hypothalamic hypopituitarism is most unusual. We report five females with septo-optic dysplasia, blindness, and multiple pituitary tropic hormone deficiencies: all were growth hormone and adrenocorticotropic hormone deficient; two had diabetes insipidus; one had sexual precocity, and one had early pubertal maturation, whereas three were prepubertal and responded to administration of synthetic gonadotropin-releasing hormone. These children retained ability to secrete gonadotropins despite the presence of anterior hypothalamic disease. Experimental data from primates plus our observations on these patients raise questions about the role of the anterior hypothalamus in gonadotropin secretion in man.