ABSTRACT
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Subject(s)
Humans , Female , Middle Aged , Hypothalamic Neoplasms/pathology , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Non-Hodgkin/pathology , Diabetes Mellitus, Type 2/complications , Obesity, Morbid/complications , Dyslipidemias/complicationsSubject(s)
Hypothalamus/pathology , Lymphoma, Large B-Cell, Diffuse/pathology , Antigens, CD20/analysis , Biomarkers, Tumor , Biopsy , CD79 Antigens/analysis , Craniopharyngioma/diagnosis , Deamino Arginine Vasopressin/therapeutic use , Delayed Diagnosis , Dexamethasone/therapeutic use , Diabetes Insipidus/drug therapy , Diabetes Insipidus/etiology , Diagnosis, Differential , Female , Humans , Hypopituitarism/diagnosis , Hypopituitarism/etiology , Lymphoma, Large B-Cell, Diffuse/chemistry , Lymphoma, Large B-Cell, Diffuse/complications , Lymphoma, Large B-Cell, Diffuse/diagnosis , Magnetic Resonance Imaging , Metabolic Syndrome/complications , Middle Aged , Pituitary Neoplasms/diagnosis , Vision Disorders/etiologySubject(s)
Hypercalciuria/chemically induced , Hypoparathyroidism/chemically induced , Nephrocalcinosis/chemically induced , Omeprazole/adverse effects , Proton Pump Inhibitors/adverse effects , Renal Tubular Transport, Inborn Errors/chemically induced , Humans , Hypoparathyroidism/complications , Male , Middle Aged , Severity of Illness IndexABSTRACT
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential.
Subject(s)
Adrenal Gland Neoplasms/genetics , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Exons/genetics , Genetic Predisposition to Disease , Germ-Line Mutation/genetics , Pheochromocytoma/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Amino Acid Sequence , Base Sequence , Basic-Leucine Zipper Transcription Factors , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Loss of Heterozygosity , Male , Middle Aged , Molecular Sequence Data , Neuroblastoma/genetics , Polymerase Chain Reaction , Polymorphism, Single Nucleotide/genetics , Sequence Homology, Amino Acid , Uniparental Disomy , Young AdultSubject(s)
Addison Disease/etiology , Adrenal Gland Neoplasms/complications , Lymphoma, Large B-Cell, Diffuse/complications , Neoplasms, Multiple Primary/complications , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/diagnostic imaging , Adrenal Gland Neoplasms/drug therapy , Adrenocorticotropic Hormone/blood , Aged, 80 and over , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Female , Glucocorticoids/therapeutic use , Humans , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/diagnostic imaging , Lymphoma, Large B-Cell, Diffuse/drug therapy , Prognosis , Tomography, X-Ray Computed , Vomiting/etiologySubject(s)
Diabetes Insipidus/complications , Glucocorticoids/therapeutic use , Inflammation/drug therapy , Pituitary Diseases/drug therapy , Pituitary Gland, Posterior , Dexamethasone/therapeutic use , Female , Humans , Inflammation/etiology , Inflammation/immunology , Lymphocytes , Middle Aged , Pituitary Diseases/etiology , Pituitary Diseases/immunology , Remission InductionSubject(s)
Humans , Female , Middle Aged , Pituitary Gland, Posterior , Pituitary Diseases/drug therapy , Inflammation/drug therapy , Diabetes Insipidus/complications , Glucocorticoids/therapeutic use , Remission Induction , Pituitary Diseases/etiology , Pituitary Diseases/immunology , Lymphocytes , Inflammation/etiology , Inflammation/immunology , Dexamethasone/therapeutic useSubject(s)
Catecholamines/metabolism , Ear Neoplasms/metabolism , Paraganglioma/metabolism , Tympanic Membrane , Humans , Male , Middle AgedSubject(s)
Humans , Male , Middle Aged , Catecholamines , Ear Neoplasms , Paraganglioma , Tympanic MembraneABSTRACT
Congenital hypopituitarism due to pituitary stalk and anterior pituitary hypoplasia accompanied by an ectopic posterior pituitary lobe is a rare disorder causing multiple hormone deficiencies. Clinical signs can be present at birth (hypoglycemia, prolonged jaundice and micropenis) and there can be severe growth restriction. Therefore, diagnosis is usually performed in childhood. We present the uncommon case of a 67-year-old man with hypopituitarism due to hypoplasia of the anterior pituitary and pituitary stalk together with an ectopic posterior pituitary who presented symptoms of hyponatremia due to adrenocorticotropic hormone deficiency.
Subject(s)
Brain Diseases/complications , Choristoma/complications , Hypopituitarism/etiology , Pituitary Gland, Anterior/abnormalities , Pituitary Gland, Posterior , Age of Onset , Aged , Brain Diseases/diagnosis , Brain Diseases/pathology , Choristoma/diagnosis , Choristoma/pathology , Craniocerebral Trauma/complications , Depressive Disorder/complications , Dwarfism, Pituitary/etiology , Hormone Replacement Therapy , Humans , Hypopituitarism/drug therapy , Hypopituitarism/epidemiology , MaleABSTRACT
El hipopituitarismo congénito por hipoplasia conjunta de tallo hipofisario e hipófisis anterior acompañada de neurohipófisis ectópica es un trastorno raro que causa múltiples deficiencias en la producción de hormonas. Todo ello puede conducir a signos clínicos en el momento del nacimiento (hipoglucemia, ictericia prolongada y micropene) y retraso severo del crecimiento. Por lo tanto, su diagnóstico se realiza habitualmente en edad infantil. Aquí presentamos un raro caso de un paciente de 67 años de edad con hipopituitarismo por una hipoplasia de la hipófisis anterior y el tallo hipofisario, junto con neurohipófisis ectópica diagnosticado por clínica de hiponatremia, debido a una deficiencia de corticotropina (ACTH)(AU)
Congenital hypopituitarism due to pituitary stalk and anterior pituitary hypoplasia accompanied by an ectopic posterior pituitary lobe is a rare disorder causing multiple hormone deficiencies. Clinical signs can be present at birth (hypoglycemia, prolonged jaundice and micropenis) and there can be severe growth restriction. Therefore, diagnosis is usually performed in childhood. We present the uncommon case of a 67- year-old man with hypopituitarism due to hypoplasia of the anterior pituitary and pituitary stalk together with an ectopic posterior pituitary who presented symptoms of hyponatremia due to adrenocorticotropic hormone deficiency(AU)