CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour

被引：0
|
作者：
Kallali, Wafa [1 ]
Gray, Ewan [2 ]
Mehdi, Muhammad Zain [3 ]
Lindsay, Robert [4 ,5 ]
Metherell, Lou [6 ]
Buonocore, Federica [7 ]
Achermann, John [7 ]
Donaldson, Malcolm [8 ]
机构：
[1] Childrens Hosp Bechir Hamza, Tunis, Tunisia
[2] NHS Greater Glasgow & Clyde, Glasgow, Lanark, Scotland
[3] Glan Clwyd Gen Hosp, Pathol Dept, Rhyl, Wales
[4] Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland
[5] Univ Glasgow, Glasgow Cardiovasc Res Ctr, British Heart Fdn, Glasgow, Lanark, Scotland
[6] Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London, England
[7] UCL GOS Inst Child Hlth, London, England
[8] Glasgow Univ, Royal Hosp Children, Sch Med, Sect Child Hlth, Glasgow, Lanark, Scotland
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2019年 / 91卷
基金：
英国医学研究理事会;
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-2
引用
收藏
页码：360 / 360
页数：1
相关论文
共 30 条
  • [1] Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia
    Sahakitrungruang, Taninee
    Tee, Meng Kian
    Blackett, Piers R.
    Miller, Walter L.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (03): : 792 - 798
  • [2] The pharmacokinetics and the pharmacodynamic effect of ODM-208, an inhibitor of cholesterol side-chain cleavage enzyme (CYP11A1)
    Bernard-Tessier, A.
    Nykanen, P.
    Utriainen, T.
    Cook, N.
    Barthelemy, P.
    Baldini, C.
    Peters, N.
    Ikonen, T.
    Pohjanjousi, P.
    Karimaa, M.
    Malkki, J.
    Toivanen, P. T.
    Garratt, C.
    Fizazi, K.
    [J]. ANNALS OF ONCOLOGY, 2022, 33 (07) : S1194 - S1194
  • [3] Structural Basis for Three-step Sequential Catalysis by the Cholesterol Side Chain Cleavage Enzyme CYP11A1
    Mast, Natalia
    Annalora, Andrew J.
    Lodowski, David T.
    Palczewski, Krzysztof
    Stout, C. David
    Pikuleva, Irina A.
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (07) : 5607 - 5613
  • [4] Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive
    Dimitrios T. Papadimitriou
    Christina Bothou
    Diagoras Zarganis
    Maria Karantza
    Anastasios Papadimitriou
    [J]. Hormones, 2018, 17 : 419 - 421
  • [5] Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive
    Papadimitriou, Dimitrios T.
    Bothou, Christina
    Zarganis, Diagoras
    Karantza, Maria
    Papadimitriou, Anastasios
    [J]. HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2018, 17 (03): : 419 - 421
  • [6] Testicular Adrenal Rest Tumors (TARTs) as presenting symptom of CAH due to CYP11A1deficiency
    Bakker-van Waarde, Willie
    Claahsen-van der Grinten, Hedi
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 462 - 462
  • [7] Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc
    Tee, Meng Kian
    Abramsohn, Michal
    Loewenthal, Neta
    Harris, Mark
    Siwach, Sudeep
    Kaplinsky, Ana
    Markus, Barak
    Birk, Ohad
    Sheffield, Val C.
    Pavari, Ruti
    Hershkovitz, Eli
    Miller, Walter L.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (02): : 713 - 720
  • [8] Homozygote mutation of P450SCC side-chain cieavage enzyme gene (CYP11A1) in a patient with adrenal failure and sex reversal
    Grabensee, A.
    Schaaf, K.
    Muehlenberg, R.
    Hiort, O.
    Werner, R.
    Holterhus, P. M.
    Hauffa, B. P.
    [J]. HORMONE RESEARCH, 2008, 70 : 141 - 141
  • [9] Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency
    Garcia, Cyril
    Dusaud, Marie
    Chiron, Paul
    Sollier, Mathilde
    Nassouri, Sika
    Groussin, Lionel
    Sibony, Mathilde
    Goursaud, Claire
    Roucher-Boulez, Florence
    Bordier, Lyse
    [J]. CASE REPORTS IN ENDOCRINOLOGY, 2021, 2021
  • [10] Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
    Hiort, O
    Holterhus, PM
    Werner, R
    Marschke, C
    Hoppe, U
    Partsch, CJ
    Riepe, FG
    Achermann, JC
    Struve, D
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (01): : 538 - 541
123