Cortisone reductase deficiency

Cortisone reductase deficiency a) Cortisone reductase deficiency (CRD) b) Apparent cortisone reductase deficiency (ACRD) HSD11B1 H6PD or G6PTl(GSDlb) Iq32-q41 lpter-p36.13 1 lq23 604931,600713, 138090 602671... 

This condition was first noted in two markedly hirsute sisters who had elevated production of cortisol but were not Cushingoid [66]. It was found that these patients had elevated excretion of THE and related 11-oxo-steroids relative to 11/Lhydroxy-lated compounds, and so the disorder was named apparent cortisone reductase deficiency (ACRD). Subsequently, the disorder has been documented in other patients (Table 5.3.8) [3,15, 38, 54]. Presumably, the rapid and irreversible conversion of cortisol to cortisone protects against some of the negative manifestations of hypercor-tisolism. Hyperandrogenism secondary to increased cortisol clearance is the most serious clinical manifestation of the condition. 

While defective 11/1HSD I seemed the most likely cause of the disorder, no loss-of-function mutations were found in 1 IjSHSD I in the first patients investigated [61 ]. The cause of the disorder in these cases proved to be mutations in hexose-6-phos-phate dehydrogenase (H6PDH), the enzyme that supplies electrons to the NADPH utilized in oxidoreduction [15]. Later studies have found 11/311814 I mutations in some affected individuals. Thus, there are two monogenic disorders giving rise to a similar phenotype cortisone reductase deficiency caused by lljSHSD I mutations,... 

Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M (2000) Apparent cortisone reductase deficiency a rare cause of hyperandrogenemia and hypercortisolism. Horm Res 53 260-266... 

Jamieson A, Wallace AM, Andrew R, Nunez BS, Walker BR, Fraser R White PC, Connell JMC (1999) Apparent cortisone reductase deficiency a functional defect in 11 /J-hydroxysteroid dehydrogenase type 1. J Clin Endocrinol Metab 84 3570-3574... 

Malunowicz EM, Romer , Urban M, Bossowski A (2003) 11 -/3-Hydroxyslcroid dehydrogenase type 1 deficiency (Apparent Cortisone Reductase Deficiency ) in a 6-year-old boy. Horm Res 59 205-210... 

Phillipov G, Palermo M, Shackleton CH (1996) Apparent cortisone reductase deficiency a unique form of hypercortisolism. J Clin Endocrinol Metab 81 3855-3860... 

E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, 49. Stewart PM. Mutations in the genes encoding 11 P-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat. Genet. 50. 2003 34 434-439. 

Iq32-q41 48.77 HSD11B1 Hydroxysteroid (11-beta) dehydrogenase 1 600713 Cortisone reductase deficiency 2, obesity, insulin resistance... 

Apparent cortisone reductase deficiency HSDllBl defect) Liver 1 600713... 

Table 29,9. 11 -Hydroxy steroid dehydrogenase type I deficiency (apparent cortisone reductase deficiency) ...

Corticosterone methyl oxidase II deficiency 552, 569 Cortisone reductase deficiency, apparent (AERD) 553 Cramps 453... 

Flirsutism, virilization 21-FIydroxylase defect (simple virilizing, late onset) lip FIydroxylase defect Sp iTydroxysteroid dehydrogenase defect Adrenal tumors Gonadal tumors Polycystic ovaries Cortisone reductase deficiency Idiopathic hirsutism... 

Cortisone Reductase DeGciency. In hirsutism and virilization in females, cortisone reductase deficiency has been described. Patients with this disorder convert all their cortisol into cortisone. This gives rise to an apparent cortisol deficiency. Adrenocorticotropic hormone increases and stimulates the adrenal steroid synthesis. The urinary steroid profile is characterized by a very high excretion of THE, cortolones, and adrenal androgens, and low excretion of THF and 5a-THF [33]. 

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