A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis.
A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis.
复制标题
患有明显可的松还原酶缺乏症 (ACRD) 的年轻人的随访史 - 诊断几年后。
DOI：
10.18544/pedm-23.01.0073
复制
发表时间：
2017
期刊：
影响因子：
--
通讯作者：
A. Bossowski
中科院分区：
文献类型：
--
作者：
A. Zajkowska;M. Rydzewska;Katarzyna Wojtkielewicz;J. Pomaski;T. Romer;A. Bossowski
介绍
INTRODUCTION
Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH), the enzyme responsible for NADPH generation playing critical role in 11-hydroxysteroid dehydrogenase type 1 (11b-HSD1) activity, cause apparent cortisone reductase deficiency (ACRD). It leads to increased metabolic clearance rate of cortisol due to a defect in cortisone to cortisol conversion by 11b-HSD1. We want to analyse the process of the disease, efficacy of long-lasting treatment with glucocorticoids throughout childhood and adolescence in only male patient with ACRD.
CASE PRESENTATION
A 23 year-old male patient was diagnosed with ACRD at the age of 7 years. The clinical manifestation of ACRD was presented by precocious pubarche. His bone age was assessed as 11.5 years old. Blood tests indicated increased the plasma androgen, with elevated 17-hydroxyprogesterone concentration. A steroid profile analysis of a 24-h urine collection showed extremely reduced THF + allo-THF/THE ratio - 0.021 (normal range: 0.7-1.2). Two months of hydrocortisone therapy was ineffective and dexamethasone was administered in initial dose of 0.375 mg/24 h. Next dosage beetwen 0.125 mg/24h and 0.375 mg/24h has been changed depending on the patient's results of laboratory tests and condition. Control laboratory studies indicated suppression of excess adrenal androgen synthesis, but we never got the THF + allo-THF/THE ratio in normal values. He did not develop any serious side effects, although dexamethasone is the most potent adrenal suppression drug.
CONCLUSIONS
Hydrocortisone treatment is ineffective in ACRD patients because it was rapidly metabolized to cortisone. We have found the balance between the dexamethasone treatment effects of adrenal suppression and the achievement of full height potential considering the condition of our patient.
影响因子：
5.8
作者：
Lavery, Gareth G.;Walker, Elizabeth A.;Stewart, Paul M.
通讯作者：
Stewart, Paul M.
患有典型先天性肾上腺增生症的成年男性的长期结果。
DOI：
10.1210/jcem.86.7.7668
发表时间：
2001
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Cabrera,MS;Vogiatzi,MG;New,MI
通讯作者：
New,MI