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

Hormone Research

Volumn 59, Issue 4, 2003, Pages 205-210

  Małunowicz, Ewa M ^a   Romer, Tomasz E ^a   Urban, Maria ^b   Bossowski, Artur ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

11 Hydroxysteroid dehydrogenase type 1; Adrenal hyperandrogenism; Apparent cortisone reductase deficiency; Urinary steroid profile

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; 3ALPHA(OR 20BETA) HYDROXYSTEROID DEHYDROGENASE; ANDROGEN; CORTICOTROPIN RELEASING FACTOR; DEXAMETHASONE; GONADOTROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; GLUCOCORTICOID; HSD11B1 PROTEIN, HUMAN; HYDROXYSTEROID DEHYDROGENASE;

ANDROGEN BLOOD LEVEL; ANTHROPOMETRIC PARAMETERS; ARTICLE; BONE AGE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; DEXAMETHASONE SUPPRESSION TEST; DIAGNOSTIC IMAGING; DISEASE COURSE; DRUG DOSE REGIMEN; DRUG WITHDRAWAL; GAS CHROMATOGRAPHY; GONADOTROPIN BLOOD LEVEL; HORMONE DEFICIENCY; HORMONE RESPONSE; HUMAN; HYPERANDROGENISM; LABORATORY TEST; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MASS SPECTROMETRY; PRECOCIOUS PUBERTY; PREPUBERTY; PRIORITY JOURNAL; PROVOCATION TEST; STEROID URINE LEVEL; TREATMENT OUTCOME; AGE DETERMINATION; DIFFERENTIAL DIAGNOSIS; GROWTH DISORDER; INBORN ERROR OF METABOLISM;

11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 1; AGE DETERMINATION BY SKELETON; CHILD; CORTISONE REDUCTASE; DEXAMETHASONE; DIAGNOSIS, DIFFERENTIAL; GLUCOCORTICOIDS; GROWTH DISORDERS; HUMANS; HYDROXYSTEROID DEHYDROGENASES; HYPERANDROGENISM; MALE; METABOLISM, INBORN ERRORS; PUBERTY, PRECOCIOUS;

EID: 0037230541     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000069326     Document Type: Article

References (16)

1. Tomlinson JW, Stewart PM: Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase. Best Pract Res Clin Endocrinol Metab 2001;15:61-78.
2. Quinkler M, Oelkers W, Diedrich: Clinical implications of glucocorticoid metabolism by 11β-hydroxysteroid dehydrogenases in target tissues. Eur J Endocrinol 2001;144:87-97.
3. Taylor N, Bartlett WA, Dawson DJ: Cortisone reductase deficiency: Evidence for a new inborn error in metabolism of adrenal steroids. J Endocrinol 1984;102(suppl):89.
4. Phillopou G, Higgins BA: A new defect in the peripheral conversion of cortisone to cortisol. J Steroid Biochem 1985;22:435-436.
5. Taylor NF, Pollock A, Dornan TL: Corticosteroid 11-reductase deficiency: Steroid studies in a further family. J Clin Invest 1990;13(suppl 2):238.
6. Savage MW, Barton RN, Dornan TL, Horan MA, Robins AJ, Taylor NF: Increased metabolic clearance of cortisol in corticosteroid 11-reductase deficiency. J Endocrinol 1991;129(suppl):219.
7. Phillipov G, Palermo M, Shackleton CH: Apparent cortisone reductase deficiency: A unique form of hypercortisolism. J Clin Endocrinol Metab 1996;81:3885-3860.
8. Jamiesson A, Wallace AM, Andrew R, Nunez BS, Walker BR, Fraser R, White PC, Connell JM: Apparent cortisone reductase deficiency: A functional defect in 11beta-hydroxysteroid dehydrogenase type I. J Clin Endocrinol Metab 1999;84:3570-3574.
9. Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M: Apparent cortisone reductase deficiency: A rare cause of hyperandrogenemia and hypercortisolism. Horm Res 1999;53:260-266.
10. Filipek M, Wawer ZT, Ruszczyńska-Wolska A, Podleśny J: HPLC method for the determination of cortisone, hydrocortisone, 21-deoxycortisol and 11-deoxycortisol in human plasma, and its use in diagnosis of congenital adrenal hyperplasia (abstract). Ann Diagn Paediatr Pathol 1997;1:201.
11. Shackleton CHL: Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 1993;45:127-140.
12. Kotelevtsev Y, Holmes MC, Burchell A, Houston PM, Schmoll D, Jamiesson P, Best R, Brown R, Edwards CR, Seckl JR, Mullins JJ: 11β-Hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. Proc Natl Acad Sci USA 1997;94:14924-14292.
13. Taniyama M, Honma K, Ban Y: Urinary cortisol metabolites in the assessment of peripheral thyroid hormone action: Application for diagnosis of resistance to thyroid hormone. Thyroid 1993;3:229-233.
14. Diederich S, Grossmann C, Hanke B, Quinkler M, Herrmann M, Bähr V, Oelkers W: In the search for specific inhibitors of human 11β-hydroxysteroid dehydrogenases (11β-HSDs): Chenodeoxycholic acid selectively inhibits 11β-HSD-I. Eur J Endocrinol 2000;142:200-207.
15. Diederich S, Hanke B, Oelkers W, Bähr V: Metabolism of dexamethasone in the human kidney: Nicotinamide adenine dinucleotide-dependent 11β-reduction. J Clin Endocrinol Metab 1997;82:1598-1602.
16. Maser E, Oppermann UC: The 11β-hydroxysteroid dehydrogenase system, a determinant of glucocorticoid and mineralocorticoid action: Role of type-1 11β-hydroxysteroid dehydrogenase in detoxification process. Eur J Biochem 1997;249:365-369.