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一名患有特纳综合征的女孩因经典型21-羟化酶缺乏导致女性假两性畸形。

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.

作者信息

Maciel-Guerra A T, Guerra G, Marini S H, Matias Baptista M T, Marques-de-Faria A P

机构信息

Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.

出版信息

Clin Genet. 1997 May;51(5):351-3. doi: 10.1111/j.1399-0004.1997.tb02487.x.

DOI:10.1111/j.1399-0004.1997.tb02487.x
PMID:9212186
Abstract

We report on a rare case of female pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.

摘要

我们报告了一例罕见的女性假两性畸形病例,其病因是经典型21-羟化酶缺乏症,并伴有特纳综合征(45,X/46,XX)。文中简要讨论了这两种疾病管理上的困难。我们认为这种罕见的组合是一种巧合。

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Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.一名患有特纳综合征的女孩因经典型21-羟化酶缺乏导致女性假两性畸形。
Clin Genet. 1997 May;51(5):351-3. doi: 10.1111/j.1399-0004.1997.tb02487.x.
2
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.一名患有45,X/46,XX特纳综合征且因调控变化导致先天性肾上腺皮质增生盐耗型的女孩。
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[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].[特纳综合征与先天性肾上腺皮质增生症合并21-羟化酶缺乏的罕见组合:病例报告]
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Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.一名患有特纳综合征的女孩因经典型21-羟化酶缺乏和胰岛素抵抗导致女性假两性畸形。
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[Adrenal enzyme defects and intersexuality].
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Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.21-羟化酶基因常见突变的不表达:对产前诊断和携带者检测的意义。
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A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.一种罕见的组合:21-羟化酶缺乏所致先天性肾上腺皮质增生症与特纳综合征。
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Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.促肾上腺皮质激素刺激试验和人类白细胞抗原多态性表明,特纳综合征患者及其家族中类固醇21-羟化酶缺乏症的杂合子频率较高。
Clin Endocrinol (Oxf). 1994 Jan;40(1):39-45. doi: 10.1111/j.1365-2265.1994.tb02441.x.

引用本文的文献

1
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.21-羟化酶缺乏所致先天性肾上腺皮质增生症与特纳综合征的罕见并存:一例报告及文献简要综述
J Clin Res Pediatr Endocrinol. 2023 Feb 27;15(1):86-89. doi: 10.4274/jcrpe.galenos.2021.2021.0174. Epub 2021 Aug 6.
2
Turner syndrome with positive gene and non-classical congenital adrenal hyperplasia: A case report.基因阳性的特纳综合征与非经典型先天性肾上腺皮质增生症:一例报告。
World J Clin Cases. 2021 Apr 6;9(10):2259-2267. doi: 10.12998/wjcc.v9.i10.2259.
3
A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.
一种罕见的组合:21-羟化酶缺乏所致先天性肾上腺皮质增生症与特纳综合征。
J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):213-5. doi: 10.4274/jcrpe.767.