Sibling Cases of Addisons Disease Caused byDAX-1 Gene Mutations
スポンサーリンク
概要
- 論文の詳細を見る
We report two sibling cases of Addisons disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune disease. The diagnosis of primary adrenocortical insufficiency was made at the age of 5 in the younger brother and at the age of 18 in the elder brother. The younger brother had been inactive during infancy and had diffuse skin pigmentation without abnormal external genitalia, while the elder brother had been healthy until the age of 17 when he noticed skin pigmentation and small testes. Both boys had delayed puberty due to hypogonadotropic hypogonadism. The diagnosis of adrenal hypoplasia congenita (AHC) was established by genetic analysis of DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene 1) with the same single frameshift mutation (305delG). However, yet-uncharacterized epigenetic, nongenetic and/or genetic factors other than the DAX-1 gene may be responsible for the differential onset of AHC in these sibling cases.
著者
-
Sekiguchi Yoshihiro
Division Of Endocrinology And Metabolism Ohme Municipal General Hospital And Department Of Clinical
-
Hirata Yukio
Department Of Anatomy And Embryology Tokyo Metropolitan Institute For Neurosciences:(present)departm
-
Hara Yoshihito
Division Of Endocrinology And Metabolism Ohme Municipal General Hospital
-
Katsumata Noriyuki
Department Of Endocrinology & Metabolism National Children's Medical Research Center
-
Matsuoka Hiroshi
Division Of Medical Oncology/hematology Department Of Medicine Kobe University Graduate School Of Me
-
Hayashi Yoshiki
Division of Respiratory Medicine, Niigata University Graduate School of Medical and Dental Sciences
-
Sekiguchi Yoshihiro
Divisions of Endocrinology, Metabolism and Pediatrics, Ohme Municipal General Hospital
-
Matsuoka Hiroshi
Divisions of Endocrinology, Metabolism and Pediatrics, Ohme Municipal General Hospital
関連論文
- Giant Malignant Insulinoma Which Developed from a Non-Functioning Pancreatic Tumor Over a Long Period of Time
- Malignant Gastric Carcinoid Causing Ectopic ACTH Syndrome : Discrepancy of Plasma ACTH Levels Measured by Different Immunoradiometric Assays
- Respiratory Failure with Myxedema Ascites in a Patient with Idiopathic Myxedema
- Serum Levels of Free Insulin-Like Growth Factor (IGF)-I in Normal Children
- Improvement of Congestive Heart Failure after Octreotide and Transsphenoidal Surgery in a Patient with Acromegaly
- Vasculoprotective effect of cilostazol in aldosterone-induced hypertensive rats
- THE MECHANISM OF OVERDRIVE SUPPRESSION. : ACTIVATION OF ELECTROGENIC SODIUM PUMP FOLLOWRNG RAPID STIMULATION : IIIrd Auditorium
- Improvement of Endothelial Dysfunction in Acromegaly after Transsphenoidal Surgery
- Advanced Endothelial Dysfunction in Diabetic Patients with Multiple Risk Factors ; Importance of Insulin Resistance
- A Case of Factitious Adrenal Insufficiency after Vascular Graft Surgery Caused by Spurious Immunometric Assays
- Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota)
- A Study on the Transmural Conduction Velocity of Activation Front in the Left Ventricle of RBBB Patients : CLINICAL APPLICATION OF BODY SURFACE MAPPING
- THE EFFECT OF VENTRICULAR HYPERTROPHY ON THE VENTRICULAR TRANSMURAL CONDUCTION VELOCITY OF RBBB PATIENTS : Electrocardiography・Vectorcardiography II : PROCEEDINGS OF THE 44th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- CD44 Variant Isoform Expression and Breast Cancer Prognosis
- THE CONTIBUTION OF THE PURKINJE SYSTEM TO THE ENDOCARDIAL EXCITATION SPREAD IN THE RIGHT VENTRICLE : Arrhythmia II : IInd Auditorium : Proceedings of the 43rd Annual Meeting of the Japanese Circulation Society, Tokyo, 1979
- -67-EFFECTS OF HYPOXIA OR LOW pH ON THE ALTERNATION OF CANINE VENTRICULAR ACTION POTENTIALS OCCURRING AFTER A SUDDEN INCREASE IN DRIVING RATE : Ischemic Heart Disease : PROCEEDINGS OF THE 42nd ANNUAL MEETING OF THE JAPANESE CIRCULATION SOCIETY
- Cytokine-Activated p42/p44 MAP Kinase Is Involved Inducible Nitric Oxide Synthase Gene Expression Independent from NF-χB Activation in Vascular Smooth Muscle Cells
- Suppression in of Integrin α_V Expression by Endothelin-1 in Vascular Smooth Muscle Cells
- Thymic Hyperplasia as a Source of Ectopic ACTH Production
- Defective Expression of Prohormone Convertase 4 and Enhanced Expression of Insulin-like Growth Factor II by Pleural Solitary Fibrous Tumor Causing Hypoglycemia
- Late-night Salivary Cortisol as A Screening Test for the Diagnosis of Cushing's Syndrome in Japan
- Defective Expression of Prohormone Convertase 1/3 in Silent Corticotroph Adenoma
- Unknown primary carcinoma: a feasibility assessment of combination chemotherapy with cisplatin and docetaxel
- Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
- Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
- Replacement of Alanine with Asparagic Acid at Position 203 in Human Steroidogenic Acute Regulatory Protein Impairs the Ability to Enhance Steroidogenesis in vitro
- The Comparison of the Effects of Short-Term Growth Hormone Treatment in Patients with Achondroplasia and with Hypochondroplasia
- Serum Levels of Free Insulin-Like Growth Factor (IGF)-I in Normal Children ; Relations to Total IGF-I, IGF Binding Protein (IGFBP)-1, IGFBP-3, and Acid Labile Subunit (ALS)
- Systemic Distribution of Salusin Expression in the Rat
- A Case of Estrogen-secreting Adrenocortical Carcinoma with Subclinical Cushing's Syndrome
- Hypospadias in a Male Patient with 21-hydroxylase Deficiency
- Japanese Familial Patients with Male-Limited Precocious Puberty
- Genetic and Endocrinological Evaluations of Three 46, XX Patients with Congenital Lipoid Adrenal Hyperplasia Previously Reported as Having Presented Spontaneous Puberty
- Torsade de Pointes Associated with Recurrent Ampulla Cardiomyopathy in a Patient with Idiopathic ACTH Deficiency
- Ascorbic Acid Augments Cytotoxicity Induced by Oxidized Low-Density Lipoprotein
- Diagnostic Accuracy of Adrenal Venous Sampling in Comparison with Other Parameters in Primary Aldosteronism
- Type 1 Diabetes Mellitus and Drug-resistant Epilepsy : Presence of High Titer of Anti-Glutamic Acid Decarboxylase Autoantibodies in Serum and Cerebrospinal Fluid
- Differential Expression of Somatostatin and Dopamine Receptor Subtype Genes in Adrenocorticotropin (ACTH)-secreting Pituitary Tumors and Silent Corticotroph Adenomas
- Development and Validation of a 0.5mg Dexamethasone Suppression Test as an Initial Screening Test for the Diagnosis of ACTH-dependent Cushing's Syndrome
- Pioglitazone Improves Endothelial Function with Increased Adiponectin and High-density Lipoprotein Cholesterol Levels in Type 2 Diabetes
- Endothelial Dysfunction Is Related to Aldosterone Excess and Raised Blood Pressure
- A Case of Acromegaly Associated with Subclinical Cushing's Disease
- Adrenomedullin Inhibits Angiotensin II-Induced Oxidative Stress and Gene Expression in Rat Endothelial Cells
- Laminar Shear Stress Up-Regulates Inducible Nitric Oxide Synthase in the Endothelium
- Octreotide-Sensitive Ectopic ACTH Production by Islet Cell Carcinoma with Multiple Liver Metastases
- -333-SERIAL CHANGES OF HUMAN ATRIAL NATRIURETIC PEPTIDE DURING PERCUTANEOUS TRANSVENOUS MITRAL COMMISSUROTOMY : Atrial Natriuretic Polypeptide : FREE COMMUNICATIONS(II) : PROCEEDINGS OF THE 53th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIET
- Olfactory Neuroblastoma Causing Ectopic ACTH Syndrome
- Fluoride release and recharge characteristics of denture base resins containing surface pre-reacted glass-ionomer filler
- HER2 Is Frequently Over-expressed in Ovarian Clear Cell Adenocarcinoma : Possible Novel Treatment Modality Using Recombinant Monoclonal Antibody against HER2, Trastuzumab
- A Rare Case of ACTH-independent Macronodular Adrenal Hyperplasia Associated with Aldosterone-producing Adenoma
- U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
- Reduced Size of Preputial Glands and Absence of Aggressive Behavior in the Genetically Obese (ob/ob) Mouse : COMMUNICATION : Behavior Biology
- Epidemiological study of gastroenteropancreatic neuroendocrine tumors in Japan
- Reverse `See-Saw' Relationship between Graves' Disease and Myasthenia Gravis; Clinical and Immunological Studies
- Regulation of Cell Growth and Apoptosis by Adrenomedullin
- Homozygous Q258X Mutation in the Steroidogenic Acute Regulatory Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
- Long Term Follow-Up of a 46,XY Phenotypic Girl with 17α-Hydroxylase Deficiency Treated with Alternate-Day Dexamethasone
- A Patient with Type 1 Diabetes Mellitus and Cerebellar Ataxia Associated with High Titer of Circulating Anti-Glutamic Acid Decarboxylase Antibodies
- Measuring Quality of Life in Patients with Breast Cancer: A Systematic Review of Reliable and Valid Instruments Available in Japan
- Systematic Overview of Quality of Life Studies for Breast Cancer
- Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency
- Sibling Cases of Addisons Disease Caused byDAX-1 Gene Mutations
- Two Cases of Allgrove Syndrome with Mutations in the AAAS Gene
- Noninsulinoma Pancreatogenous Hypoglycemia Syndrome: A Rare Case of Adult-onset Nesidioblastosis
- Analysis of the AAAS Gene in a Japanese Patient with Triple A Syndrome
- Distinct Uptake of 18F-Fluorodeoxyglucose by Brown Adipose Tissue with a Catecholamine-Secreting Tumor
- Evidence-based guidelines for treatment of uterine body neoplasm in Japan : Japan Society of Gynecologic Oncology (JSGO) 2009 edition
- Role of Endothelin-1/Endothelin Receptor System in Endotoxic Shock Rats
- Improvement of endothelial function in patients with hypertension and type 2 diabetes after treatment with telmisartan
- A Pyrrolidinone Derivative Inhibits Cytokine-Induced iNOS Expression and NF-id3 Activation by Preventing Phosphorylation and Degradation of IkB-α^1
- Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column
- Multicenter, phase II, placebo-controlled, double-blind, randomized study of aprepitant in Japanese patients receiving high-dose cisplatin
- Severe Myocardial Ischemia following Hormone Replacement in Two Cases of Hypothyroidism with Normal Coronay Arteriogram
- Selective Amplification of Exons 3 and 8 of the Human Growth Hormone Receptor (hGHR) Gene Based on Newly Identified Intron Sequences
- Response to Paulo et al. : Japanese patients equally likely to benefit from aprepitant for chemotherapy-induced nausea and vomiting prevention
- Subclinical Cushings Disease with Amelioration of Metabolic Comorbidities after Removal of Pituitary Tumor
- Evaluation of Plasma, Salivary, and Urinary Cortisol Levels for Diagnosis of Cushing's Syndrome
- Clinicopathological features of primary aldosteronism associated with subclinical Cushing's syndrome
- Clinical features and management of ectopic ACTH syndrome at a single institute in Japan
- Successful neutrophil engraftment by reduced use of granulocyte colony-stimulating factor after allogeneic hematopoietic stem cell transplantation with mycophenolate mofetil for graft-versus-host disease prophylaxis
- Clinicopathological features, biochemical and molecular markers in 5 patients with adrenocortical carcinoma
- Differential gene expression profiles of POMC-related enzymes, transcription factors and receptors between non-pituitary and pituitary ACTH-secreting tumors
- Successful localization of ectopic ACTH-secreting bronchial carcinoid by selective pulmonary arterial sampling
- Ectopic ACTH syndrome caused by bronchial carcinoid tumor indistinguishable from Cushing's disease
- Correlation between Endothelial Dysfunction and Hypercalcemia in Patient with Primary Hyperparathyroidism
- Endothelial Dysfunction Associated with Hypercortisolism is Reversible in Cushing's Syndrome
- Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty
- Clinical outcome of subclinical Cushing's syndrome after surgical and conservative treatment
- Differential expression of genes related to drug responsiveness between sparsely and densely granulated somatotroph adenomas
- Evaluation of salivary cortisol measurements for the diagnosis of subclinical Cushing's syndrome
- Isolated Isochromosome 17q in Myelodysplastic Syndromes with Pure Red Cell Aplasia and Basophilia
- Gain of 11q by an Additional Ring Chromosome 11 and Trisomy 18 in CD5-Positive Intravascular Large B-Cell Lymphoma
- Acromegaly Associated with Multiple Tumors
- Therapy-Related Pure Erythroid Leukemia with Hepatic Infiltration and Hemophagocytic Syndrome
- Glucose-responsive and Octreotide-sensitive Insulinoma
- Fungal Endophthalmitis Successfully Treated with Intravitreal Voriconazole Injection
- Class III .BETA.-Tubulin Expression in Tumor Cells is Correlated with Resistance to Docetaxel in Patients with Completely Resected Non-Small-Cell Lung Cancer
- Duplication of der(21)t(8;21)(q22;q22) in Acute Myeloid Leukemia
- Tolvaptan as an alternative treatment for refractory fluid retention associated with sinusoidal obstruction syndrome after allogeneic stem cell transplantation