RESPONSE TO TREATMENT IN CONGENITAL ADRENAL HYPERPLASIA (CAH) DURING EARLY INFANCY

Abstract

The diagnosis of CAH and treatment response, based on plasma steroid measurements, was reviewed in 9 infants (5M, 4F) in relation to hydrocortisone (HC) dose and growth velocity in the first 3 years. Two siblings had 11β-OH deficiency; the remainder had salt-losing 21OH deficiency. Mean pre-treatment 17OH-progesterone (17P) and 11-deoxycortisot levels were 367 and 2000 nmol/l respectively in the relevant groups. Plasma 17P levels fluctuated widely during the day (31-4130 nmol/l) with no diurnal pattern. Testosterone (T) levels (mean 13.2, range 1.5 - 26 nmol/l) were increased to adult male Levels, but no male was virilized. Maintenance HC (mean 25.7 mg/m²/day) in 3 divided doses (and fludrocortisone 0.1-0.15 mg/day) normalized 17P levels by 3 months (median 33, 75th centile 90 nmol/L); mean T levels fell to 1.1 nmol/l (range 0.4 - 2.7) by 3 months in females, whereas similar levels in males were delayed until 6 months due to testicular T production. A mean HC dose falling to 15.3 mg/m²/day by 3 yr maintained normal 17P and T levels; growth velocity SDS was -0.91 ± 1.3 (mean ± SD) at 9 months and remained normal thereafter.

Maintenance HC doses at the onset of treatment in CAH results in satisfactory control by 3 months (including the T surge in male infants) and ensure a rapid growth velocity characteristic of early infancy.

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