DELAYED DIAGNOSIS OF CONGENITAL ADRENAL-GLAND HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

被引：0

作者：

FOURCADE, L

VANDEWALLE, JP

DENORAY, G

MAFART, B

GRAS, C

TOUZE, JE

机构：

来源：

SEMAINE DES HOPITAUX | 1995年 / 71卷 / 3-4期

关键词：

ADRENAL HYPERPLASIA; CONGENITAL; HYPERTENSION; HYPOKALEMIA; TOMOGRAPHY; X-RAY COMPUTED;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

11-beta-hydroxylase deficiency is an abnormality of the synthesis of adrenal gland steroids that is usually diagnosed during infancy or childhood. A case diagnosed in a 55-year-old male with severe arterial hypertension and hypokalemia is reported. Hormone assays and computed tomography findings established the diagnosis. Imaging studies showed extensive atheroma lesions. A brief review of the literature was conducted to examine the features of this condition, which is rarely recognized in adulthood.

引用

页码：98 / 101

页数：4

共 50 条

[31] CONGENITAL ADRENAL-HYPERPLASIA DUE TO DEFICIENCY OF 11-BETA HYDROXYLASE
RIESCO, J
CONTRERAS, P
GENERINI, G
COSTAMAILLERE, L
REVISTA MEDICA DE CHILE, 1982, 110 (09) : 882 - 887
[32] DIFFICULTIES IN THE DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA IN EARLY INFANCY - THE 11-BETA-HYDROXYLASE DEFECT
HONOUR, JW
ANDERSON, JM
SHACKLETON, CHL
ACTA ENDOCRINOLOGICA, 1983, 103 (01): : 101 - 109
[33] Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
Menabo, Soara
Polat, Seher
Baldazzi, Lilia
Kulle, Alexandra E.
Holterhus, Paul-Martin
Groetzinger, Joachim
Fanelli, Flaminia
Balsamo, Antonio
Riepe, Felix G.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (05) : 610 - 616
[34] Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
Soara Menabò
Seher Polat
Lilia Baldazzi
Alexandra E Kulle
Paul-Martin Holterhus
Joachim Grötzinger
Flaminia Fanelli
Antonio Balsamo
Felix G Riepe
European Journal of Human Genetics, 2014, 22 : 610 - 616
[35] Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes
Santis, Elida Mercado
Campos, Ariadna
Fernandez, Paula
Oriola, Josep
Yeste, Diego
Perez, Victor
Clemente, Maria
ANALES DE PEDIATRIA, 2025, 102 (02):
[36] ADRENALECTOMY(A) IN UNMANAGEABLE CONGENITAL ADRENAL HYPERPLASIA(CAH) DUE TO 21-BETA-HYDROXYLASE AND 11-BETA-HYDROXYLASE DEFICIENCY(21OHD AND 11-BETA-OHD)
ZACHMANN, M
MAUME, BF
PRADER, A
PEDIATRIC RESEARCH, 1984, 18 (01) : 103 - 103
[37] Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
Migeon, Claude J.
HORMONE RESEARCH, 2007, 68 (06) : 298 - 299
[38] ANDROGEN MATABOLISM IN CONGENITAL ADRENAL HYPERPLASIA DUE TO 11 BETA-HYDROXYLASE DEFICIENCY
FRASIER, SD
HORTON, R
ULSTROM, RA
PEDIATRICS, 1969, 44 (02) : 201 - &
[39] PRENATAL TREATMENT OF CONGENITAL HYPERPLASIA OF THE ADRENAL-GLAND BY 21-HYDROXYLASE DEFICIENCY
DAVID, M
BETUEL, H
GUIBAUD, P
THOULON, JM
FOREST, MG
ARCHIVES FRANCAISES DE PEDIATRIE, 1986, 43 (07): : 528 - 528
[40] Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Motaghedi, R
Betensky, BP
Slowinska, B
Cerame, B
Cabrera, M
New, MI
Wilson, RC
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2005, 18 (02): : 133 - 142

← 1 2 3 4 5 →