11β-hydroxysteroid dehydrogenase type 1 deficiency ('Apparent cortisone reductase deficiency') in a 6-year-old boy

被引:18
作者
Malunowicz, EM
Romer, TE
Urban, M
Bossowski, A
机构
[1] Childrens Mem Hlth Inst, Dept Lab Diagnost, PL-04736 Warsaw, Poland
[2] Childrens Mem Hlth Inst, Dept Endocrinol, PL-04736 Warsaw, Poland
[3] Med Univ, Dept Childrens Dis 2, Bialystok, Poland
关键词
11 beta-hydroxysteroid dehydrogenase type 1 apparent cortisone reductase deficiency; adrenal hyperandrogenism; urinary steroid profile;
D O I
10.1159/000069326
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective: We present the 1st case of prepubertal hyperandrogenism because of a defect in the conversion of cortisone (E) to cortisol (F) by hepaticl 1beta-hydroxysteroid clehydrogenase type 1. Methods and Results: Clinical and anthropometric data were obtained. Serum androgens and gonadotropins with luteinizing hormone releasing hormone stimulation test, dexamethasone suppression test, and corticotropin-releasing hormone stimulation test were evaluated. Adrenal imaging and urinary steroid profiling by gas chromatography/mass spectrometry were employed. A 6.9-year-old boy presented with precocious pubarche, height (+2.6 SD), accelerated bone age (11.5 years), and Tanner stage 2 pubic hair and genitalia. Serum androgen levels were elevated and dexamethasone suppressible. Serum IF was normal, but the E concentration was increased. Central precocious puberty and congenital adrenal hyperplasia were excluded. The excretion of androgen metabolites was moderately increased, but a highly increased tetrahydrocortisone (THE) and a diminished tetrahydrocortisol (THF + allo-THF) excretion was found with a [THF + allo-THF/ THE] ratio of 0.032 (normal controls 1.05 +/- 0.17). The corticotropin-releasing hormone stimulation test showed an exaggerated adrenocorticotropic hormone response, suggesting a relative deficiency of F. Two months of hydrocortisone treatment (17.5 mg daily) failed to suppress androgens adequately. Treatment with dexamethasone (0.375 mg/daily) resulted in androgen suppression. Conclusions: In the case of precocious pubarche and accelerated growth, the diagnosis of 11beta-hydroxysteroid clehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') should be considered. The diagnosis is based on determinations of urinary steroid metabolites. Copyright (C) 2003 S. Karger AG, Basel.
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收藏
页码:205 / 210
页数:6
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