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The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).

作者信息

Carmina E, Gagliano A M, Rosato F, Maggiore M, Jannì A

出版信息

J Endocrinol Invest. 1984 Apr;7(2):89-92. doi: 10.1007/BF03348395.

DOI:10.1007/BF03348395
PMID:6327799
Abstract

We describe 5 adult women with severe hirsutism due to late onset 21-hydroxylase deficiency. Diagnosis was performed on the finding of high serum 17-hydroxyprogesterone (17OHP) levels with a marked hyperresponse to an ACTH test. The endocrine study showed in most patients a gonadotropin behavior similar to that observed in classical polycystic ovary (PCO) syndrome. Prolactin levels were slightly increased in basal conditions and presented an exaggerated response to TRH stimulation.

摘要

相似文献

1
The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
J Endocrinol Invest. 1984 Apr;7(2):89-92. doi: 10.1007/BF03348395.
2
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New reliable biochemical marker for screening 21 alpha-hydroxylase deficiency without index person among hirsute women in agreement with HLA-haplotyping.

本文引用的文献

1
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.迟发性21-羟化酶缺乏症，临床表现类似特发性多毛症或多囊卵巢疾病。
Ann Intern Med. 1982 Feb;96(2):143-8. doi: 10.7326/0003-4819-96-2-143.
2
Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.
Horm Res. 1982 Jul-Aug;16(4):193-200. doi: 10.1159/000179502.
3
Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.21-羟化酶缺乏所致先天性肾上腺皮质增生的减毒形式。
一种新的可靠生化标志物，用于在多毛女性中筛查21α-羟化酶缺乏症，无需索引病例，且与HLA单倍型分型结果一致。
J Endocrinol Invest. 1995 Nov;18(10):754-61. doi: 10.1007/BF03349807.
4
Increased DHEAs levels in PCO syndrome: evidence for the existence of two subgroups of patients.多囊卵巢综合征患者脱氢表雄酮硫酸酯（DHEAs）水平升高：存在两个患者亚组的证据
J Endocrinol Invest. 1986 Feb;9(1):5-9. doi: 10.1007/BF03348052.
J Clin Endocrinol Metab. 1982 Nov;55(5):866-71. doi: 10.1210/jcem-55-5-866.
4
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.迟发型类固醇21-羟化酶缺乏症：经典型先天性肾上腺皮质增生症的一种变异型。
J Clin Endocrinol Metab. 1982 Nov;55(5):817-27. doi: 10.1210/jcem-55-5-817.
5
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.因21-羟化酶部分缺乏所致的先天性肾上腺皮质增生症。五例病例研究。
Acta Endocrinol (Copenh). 1981 Jan;96(1):107-11. doi: 10.1530/acta.0.0960107.
6
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.因21-羟化酶缺乏不完全导致的先天性肾上腺增生症的成人表现，酷似多囊卵巢疾病。
Am J Obstet Gynecol. 1980 Nov 15;138(6):720-6. doi: 10.1016/0002-9378(80)90095-2.
7
Pubertal presentation of congenital delta 5-3 beta-hydroxysteroid dehydrogenase deficiency.先天性δ5-3β-羟类固醇脱氢酶缺乏症的青春期表现。
J Clin Endocrinol Metab. 1980 Aug;51(2):345-53. doi: 10.1210/jcem-51-2-345.
8
Adrenocortical 11 beta-hydroxylation defect in adult women with postmenarchial onset of symptoms.成年女性初潮后出现症状的肾上腺皮质11β-羟化缺陷
J Clin Endocrinol Metab. 1980 Aug;51(2):287-91. doi: 10.1210/jcem-51-2-287.
9
Early adrenal response to ACTH; Plasma concentrations of pregnenolone, 17-hydroxypregnenolone, progesterone, and 17-hydroxyprogesterone.肾上腺对促肾上腺皮质激素的早期反应；孕烯醇酮、17-羟孕烯醇酮、孕酮和17-羟孕酮的血浆浓度。
J Clin Endocrinol Metab. 1972 Jan;34(1):241-3. doi: 10.1210/jcem-34-1-241.
10
Idiopathic hirsutism--an ovarian abnormality.特发性多毛症——一种卵巢异常。
N Engl J Med. 1976 Mar 18;294(12):637-40. doi: 10.1056/NEJM197603182941204.