先天性副腎低形成
WordNet
- of or pertaining to the adrenal glands or their secretions
- near the kidneys
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- underdevelopment of an organ because of a decrease in the number of cells
PrepTutorEJDIC
- 副腎(じん)の
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/17 09:04:26」(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
- Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
- Özsu E1, Yeşiltepe Mutlu RG, Işık O, Çizmecioğlu FM, Hatun Ş.
- Journal of clinical research in pediatric endocrinology.J Clin Res Pediatr Endocrinol.2014 Dec 5;6(4):266-8. doi: 10.4274/Jcrpe.1355.
- IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neona
- PMID 25541901
- A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.
- Minari R, Vottero A, Tassi F, Viani I, Neri TM, Street ME, Ghizzoni L, Bernasconi S, Martorana D.
- Hormones (Athens, Greece).Hormones (Athens).2014 Nov 5. doi: 10.14310/horm.2002.1490. [Epub ahead of print]
- OBJECTIVE: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenes
- PMID 25402384
- Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
- Ali JM, Jalaludin MY, Harun F.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 Nov;27(11-12):1189-92. doi: 10.1515/jpem-2014-0161.
- We report a novel NR0B1 mutation in a patient affected with X-linked adrenal hypoplasia congenita (X-AHC). The proband first presented with a generalized convulsion at 11 years, 4 months. His clinical and biochemical presentations were consistent with adrenal insufficiency. His basal 17-hydroxyproge
- PMID 25003377
Japanese Journal
- 先天性副腎低形成症 (特集 遺伝性副腎疾患の現状)
- 藤枝 憲二
- 日本内科学会雑誌 97(4), 736-742, 2008-04-10
- 先天性副腎低形成は，副腎皮質の発生・分化異常のために，副腎サイズが小さく，その機能が低下したものであり，およそ1/10,000～1/15,000出生の頻度で発症をみる先天性の比較的まれな疾患である．本症にはDAX-1遺伝子異常によるX連鎖性先天性副腎低形成と複合型グリセロールキナーゼ欠損症（副腎低形成，デシュンエヌ型筋ジストロフィー，グリセローキナーゼ欠損症）によるもの，SF-1遺伝子異常による常 …
- NAID 10021253855
- Mental Retardation in a Boy with Congenital Adrenal Hypoplasia : A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL
- SASAKI RIE,INAMO YASUJI,SAITOH KAZUMASA,HASEGAWA TOMONOBU,KINOSHITA EIICHI,OGATA TSUTOMU
- Endocrine journal 50(3), 303-307, 2003-06-01
- NAID 50000262998
Related Links
- [9] Congenital adrenal hypoplasia is rare. Although the frequency has been estimated in Japan at 1 case per 12,500 births, clinical experience indicates that this disease is not as common as congenital adrenal hyperplasia due to 21-hydroxylase deficiency (incidence is approximately 1 per 10,000 ...
- Congenital adrenal hypoplasia symptoms, causes, diagnosis, and treatment information for Congenital adrenal hypoplasia (Adrenal hypoplasia congenital, X-linked) with alternative diagnoses, full-text book chapters, misdiagnosis ...
★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
[★]