Combined 21- and llß-Hydroxylase Deficiency in Familial Congenital Adrenal Hyperplasia*
Combined 21- and llß-Hydroxylase Deficiency in Familial Congenital Adrenal Hyperplasia*
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家族性先天性肾上腺增生症中 21 羟化酶和 11β 羟化酶联合缺乏*
DOI：
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
A. Rösler
中科院分区：
文献类型：
--
作者：
A. Hurwitz;C. Brautbar;A. Milwidsky;P. Vecsei;A. Milewicz;D. Navot;A. Rösler
Studies in three families (A, B, and C) revealedfive patients with congenital adrenal hyperplasia (CAH) due to partial and combined 21- and 11β3-hydroxylase deficiency. One patient (A-ll 1), a 23-yr-old severely virilized chromosomalfemale, was reared as a male, and two females (B-ll 2 and C-l) complained only of hirsutism, acne, and menstrual abnormalities. Patients A-ll 2 and B-ll 8 (17½ and 10 yr old) were asymptomatic and detected by finding an HLA genotype identical to that of their respectively affected brother and sister. Three patients (A-ll 1, A-ll 2, and C-l) had moderate hypertension. In spite of the wide range of clinical manifestations, all ndividuals had elevated androgen levels, while cortisol secretion was severely impaired only in A-ll 2. 21-Hydroxylase deficiency was diagnosed on the basis of markedly increased plasma and urinary levels of 17-hydroxyprogesterone (17-½) and 21- deoxycortisol and their respective urinary metabolites pregnanetriol and pregnanetriolone. PRA was elevated in t...
先天性肾上腺增生症的最新进展。
DOI：
10.1016/b978-0-12-571137-1.50008-6
发表时间：
1981
期刊：
Recent progress in hormone research
影响因子：
--
作者：
New,MI;Dupont,B;Pang,S;Pollack,M;Levine,LS
通讯作者：
Levine,LS
典型先天性肾上腺增生症患者家族中隐性 21-羟化酶缺乏症。
DOI：
10.1210/jcem-51-6-1316
发表时间：
1980
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
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作者：
Levine,LS;Dupont,B;Lorenzen,F;Pang,S;Pollack,M;Oberfield,S;Kohn,B;Lerner,A;Cacciari,E;Mantero,F;Cassio,A;Scaroni,C;Chiumello,G;Rondanini,GF;Gargantini,L;Giovannelli,G;Virdis,R;Bartolotta,E;Migliori,C;Pintor,C;Tato
通讯作者：
Tato
先天性肾上腺增生综合征和促肾上腺皮质激素过量的急性状态中血浆脱氧皮质酮的起源。
DOI：
10.1210/jcem-57-3-580
发表时间：
1983
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Antonipillai,I;Moghissi,E;Frasier,SD;Horton,R
通讯作者：
Horton,R