A case of adrenogenital syndrome with aberrant 11beta-hydroxylation.

Abstract

A 17 year old female patient with hypertension, amenorrhoea and hirsutism was found to have subnormal levels of plasma and urinary cortisol, significant plasma levels of Reichstein's compound S and 21-deoxycortisol, high urinary levels of THS and pregnanetriolone as well as elevated levels of plasma and urinary testosterone. Treatment with 0.5 mg/day of dexamethasone or 25 mg/day cortisone reduced her hypertension and restored her menstrual cycles, but also resulted in the development of moon face, body striae and a gain in weight. Lower doses of cortisone were without effect. The deficient cortisol production coupled with the presence of unusual intermediates such as Reichstein's compound S and 21-deoxycortisol can be explained by a shift in the substrate specificity of 11beta-hydroxylase from C-21-hydroxylated substrates (i.e. compound S) to C-21-deoxy substrates (i.e. 17-hydroxyprogesterone).

• Authors: I Maschler, J Weidenfeld, A Muller, S Slavin, J Shaefer, I Chowers, M Finkelstein
• Journal: Acta endocrinologica (Acta Endocrinol (Copenh)) Vol. 85 Issue 4 Pg. 832-9 (Aug 1977) ISSN: 0001-5598 [Print] Denmark
• PMID: 578062 (Publication Type: Case Reports, Journal Article)

Chemical References

• 17-Ketosteroids
• Hydroxyprogesterones
• Pregnenediones
• Pregnanetriol
• Testosterone
• Thyrotropin
• Transcortin
• Steroid Hydroxylases
• Corticosterone
• Hydrocortisone

Topics

• 17-Ketosteroids (metabolism)
• Adolescent
• Adrenal Hyperplasia, Congenital (metabolism)
• Amenorrhea (metabolism)
• Corticosterone (metabolism)
• Female
• Hirsutism (metabolism)
• Humans
• Hydrocortisone (metabolism)
• Hydroxyprogesterones (metabolism)
• Hypertension (metabolism)
• Pregnanetriol (metabolism)
• Pregnenediones (urine)
• Steroid Hydroxylases (deficiency)
• Syndrome
• Testosterone (urine)
• Thyrotropin (urine)
• Transcortin (blood)