CYP11-BETA-1 (11-BETA-HYDROXYLASE) DEFICIENCY IN CONGENITAL ADRENAL-HYPERPLASIA

Objective: To review experience of CYP11 beta 1 deficiency (previously known as 11 beta-hydroxylase) at the Royal Children's Hospital, Melbo urne, Victoria. Methodology: A retrospective case review was conducted from 1974 to 1995 with five cases identified. Results: Age of present ation ranged from 1 day to 7 years. Presentation was with ambiguous ge nitalia at birth (two females), simple virilization (two males) and su spected early puberty in mid childhood (one female). Associated clinic al features were hypertension (three cases) and tall stature with mark edly advanced bone age (four cases). Biochemical abnormalities consist ent with CYP11 beta 1-deficiency were elevated urinary tetrahydro-11 - deoxycortisol (n = 5) and elevated serum 11-deoxycortisol (n = 3). Add itional abnormalities were elevated 17-hydroxyprogesterone (n = 3), el evated androstenedione (n = 4) and elevated dehydroepiandrosterone sul phate (n = 4). The clinical features and investigations suggested CYP1 1 beta 1 classical deficiency in four patients and CYP11 beta 1-non-cl assical deficiency in one patient. Conclusions: The five cases of CYP1 1 beta 1-deficiency demonstrate a spectrum of clinical abnormalities, with diagnostic difficulties in two cases and delayed presentation in three cases. Prompt diagnosis of CYP11 beta 1-deficiency is facilitate d greatly by the availability of a gas chromatography-mass spectrometr y instrument and is essential to avoid the long-term effects of hypert ension and hyperandrogenism.