Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X

被引：0

作者：

Mary Matallana-Rhoades, Audrey ^{[1
,2
]}

David Corredor-Castro, Juan ^{[1
]}

Javier Bonilla-Escobar, Francisco ^{[3
,4
]}

Valentina Mecias-Cruz, Bony ^{[1
]}

Mejia de Beldjena, Liliana ^{[5
,6
]}

机构：

[1] Univ Valle, Cali, Colombia

[2] Hosp Univ Valle, Cali, Colombia

[3] Univ Valle, Inst Cisalva, Calle 4 34-00, Cali, Colombia

[4] Fdn SCISCO, Cali, Colombia

[5] Fdn Clin Valle Lili, Cali, Colombia

[6] Fdn Clin Infantil Club Noel, Cali, Colombia

来源：

COLOMBIA MEDICA | 2016年 / 47卷 / 03期

关键词：

Adrenal hyperplasia; congenital; hyperplasia adrenal glands; mutation; adrenocorticotropic hormone; virilism; 11-Beta-hydroxylase deficiency; CYP11B1;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Case Description: The phenotype of the deficiency of heterozygote 11-beta-hydroxylase composed of the Q356X and R384X mutations is described. Clinical Findings: Severe virilization, peripheral hypertension, and early puberty. Treatment and Outcome: Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.

引用

页码：172 / 175

页数：4

共 12 条

[1] Antal Z, 2009, PEDIATR REV, V30, pE49, DOI 10.1542/pir.30-12-491
[2] CLONING OF CDNA-ENCODING STEROID 11-BETA-HYDROXYLASE (P450C11)
CHUA, SC
SZABO, P
VITEK, A
GRZESCHIK, KH
JOHN, M
WHITE, PC
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (20) : 7193 - 7197
[3] MUTATIONS IN THE CYP11B1 GENE CAUSING CONGENITAL ADRENAL-HYPERPLASIA AND HYPERTENSION CLUSTER IN EXON-6, EXON-7, AND EXON-8
CURNOW, KM
SLUTSKER, L
VITEK, J
COLE, T
SPEISER, PW
NEW, MI
WHITE, PC
PASCOE, L
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (10) : 4552 - 4556
[4] Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Dumic, Katja
Yuen, Tony
Grubic, Zorana
Kusec, Vesna
Barisic, Ingeborg
New, Maria I.
[J]. INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, 2014, 2014
[5] German A, 2008, J CLIN ENDOCR METAB, V93
[6] Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V
Kharrat, M.
Trabelsi, S.
Chaabouni, M.
Maazoul, F.
Kraoua, L.
Ben Jemaa, L.
Gandoura, N.
Barsaoui, S.
Morel, Y.
M'rad, R.
Chaabouni, H.
[J]. CLINICAL GENETICS, 2010, 78 (04) : 398 - 401
[7] Steroid 11β-hydroxylase deficiency congenital adrenal hyperplasia
Nimkarn, Saroj
New, Maria I.
[J]. TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2008, 19 (03) : 96 - 99
[8] Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
Paperna, T
Gershoni-Baruch, R
Badarneh, K
Kasinetz, L
Hochberg, Z
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (09) : 5463 - 5465
[9] Congenital adrenal hyperplasia:: 11β-hydroxylase deficiency
Peter, M
[J]. SEMINARS IN REPRODUCTIVE MEDICINE, 2002, 20 (03) : 249 - 254
[10] A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism
Reisch, Nicole
Hoegler, Wolfgang
Parajes, Silvia
Rose, Ian T.
Dhir, Vivek
Goetzinger, Joachim
Arlt, Wiebke
Krone, Nils
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (10) : E1620 - E1625

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