先天性副腎低形成 AHC
WordNet
- of or pertaining to the adrenal glands or their secretions
- near the kidneys
- underdevelopment of an organ because of a decrease in the number of cells
PrepTutorEJDIC
- 副腎(じん)の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/04/15 11:12:57」(JST)
[Wiki en表示]
| X-linked adrenal hypoplasia congenita |
| Classification and external resources |
| OMIM |
300200 |
| DiseasesDB |
32988 |
X-linked adrenal hypoplasia congenita is a genetic disorder[1] that mainly affects males. It involves many endocrine tissues in the body, especially the adrenal glands.
Contents
- 1 Presentation
- 2 Genetics
- 3 References
- 4 External links
Presentation
One of the main characteristics of this disorder is adrenal insufficiency, which is a reduction in adrenal gland function resulting from incomplete development of the gland's outer layer (the adrenal cortex). Adrenal insufficiency typically begins in infancy or in childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), low sodium levels, and shock. However, adult-onset cases have also been described.[2] See also Addison's Disease.
Affected males may also lack male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). These characteristics are known as hypogonadotropic hypogonadism. Females are rarely affected by this disorder, but a few cases have been reported of adrenal insufficiency or a lack of female sex hormones, resulting in underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.
Genetics
Mutations in the NR0B1 gene located on the X chromosome (Xp21.3-p21.2) cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a transcription factor protein called DAX1 that helps control the activity of certain genes. When the NR0B1 gene is deleted or mutated, the activity of certain genes is not properly controlled. This leads to problems with the development of the adrenal glands, two structures in the brain (the hypothalamus and pituitary gland), and reproductive tissues (the ovaries or testes). These tissues are important for the production of many hormones that control various functions in the body. When these hormones are not present in the correct amounts, the signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism can result. This condition is inherited in an X-linked recessive pattern.
References
- ^ Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB (September 2001). "Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene". J. Clin. Endocrinol. Metab. 86 (9): 4068–71. doi:10.1210/jc.86.9.4068. PMID 11549627.
- ^ Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P (February 2000). "A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism". J. Clin. Invest. 105 (3): 321–8. doi:10.1172/JCI7212. PMC 377437. PMID 10675358.
External links
- GeneReviews/NCBI/NIH/UW entry on X-Linked Adrenal Hypoplasia Congenita
- Inherited Adrenal Hypoplasia: Not Just for Kids!: X-linked Adrenal Hypoplasia Congenita - MedScape
This article incorporates public domain text from The U.S. National Library of Medicine
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Sex linkage: X-linked disorders
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X-linked recessive
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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UpToDate Contents
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English Journal
- X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
- Metwalley KA, Farghaly HS.SourcePediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt. kotb72@yahoo.com.
- Journal of medical case reports.J Med Case Rep.2012 Dec 28;6(1):428. doi: 10.1186/1752-1947-6-428.
- ABSTRACT:INTRODUCTION: X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected c
- PMID 23272655
- Entire DAX1 Gene Deletion in an Indian Boy with Adrenal Hypoplasia Congenita.
- Khadilkar VV, Mangtani HR, Jahagirdar RR, Khatod KA, Phadke ND, Deepa PS, Khadilkar AV.SourceDepartment of Pediatric Endocrinology, Growth and Pediatric Endocrine unit, Hirabai Cowasji Jehangir Medical Research Institute, Old Building Basement, Jehangir Hospital, 32, Sasson Road, Pune, Maharashtra, 411001, India.
- Indian journal of pediatrics.Indian J Pediatr.2012 Dec 22. [Epub ahead of print]
- OBJECTIVE: To report a case of Adrenal hypoplasia congenita (AHC) in an Indian boy presenting with adrenal failure in the neonatal period. Molecular diagnosis demonstrated absence of the entire DAX1 gene sequence region.METHODS: Real-time SYBR Green Polymerase Chain Reaction (PCR) amplification foll
- PMID 23263975
- Expression of aldosterone synthase and adrenocorticotropic hormone receptor in adrenal incidentalomas from normotensive and hypertensive patients: Distinguishing subclinical or atypical primary aldosteronism from adrenal incidentaloma.
- Cao CX, Yang XC, Gao YX, Zhuang M, Wang KP, Sun LJ, Wang XS.SourceDepartment of Endocrinology, The Affiliated Hospital of the Medical College of Qingdao University, Shandong, Qingdao 266100, P.R. China.
- International journal of molecular medicine.Int J Mol Med.2012 Dec;30(6):1396-402. doi: 10.3892/ijmm.2012.1144. Epub 2012 Sep 27.
- The present study aimed to investigate the expression of aldosterone synthase (CYP11B2), adrenocorticotropic hormone receptor (ACTH-R) and their regulating transcription factors in adrenal incidentalomas (AIs) from normotensive and hypertensive patients to distinguish subclinical or atypical primary
- PMID 23023242
Japanese Journal
- 臨床研究・症例報告 日齢7に感染を契機に副腎不全が増悪したX連鎖性先天性副腎低形成症の1例
- Four Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism Caused by DAX-1 Gene Mutations : Mutant DAX-1 Failed to Repress Steroidogenic Acute Regulatory Protein (StAR) and Luteinizing Hormone β-subunit Gene Promoter Activity
- OKUHARA KOJI,ABE SHUJI,KONDO TAKUMA,FUJITA KEINOSUKE,KODA NOYA,MOCHIZUKI HIROSHI,FUJIEDA KENJI,TAJIMA TOSHIHIRO
- Endocrine journal 55(1), 97-103, 2008-02-01
- NAID 10021264669
- X-linked adrenal hypoplasia congenita : Testicular histology before puberty
- MORII MAYAKO,TAKAHASHI TSUTOMU,TAKAHASHI IKUKO,KOMATSU KAZUO,SAGISHIMA MASATO,NANJO HIROSHI,YOSHINO HIROAKI,HEBIGUCHI TATSUZO,KATO TETSUO,TAKADA GORO
- Pediatrics international : official journal of the Japan Pediatric Society 49(4), 526-529, 2007-08-01
- NAID 10019815006
Related Links
- X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the ...
- We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia ...
Related Pictures
★リンクテーブル★
[★]
[★]
- 英
- congenital adrenal hypoplasia, adrenal hypoplasia congenita
- 関
- 副腎低形成
[★]
- 関
- abortion、abortive、agenesis、、dysgenesis、hypotrophy
- 無形成、aplasia、aplastic
[★]
- 関
- congenital、congenitally
[★]
- 関
- adrenal gland、suprarenal
