341 EARLY CLINICAL FEATURES OF CONGENITAL ADRENAL HYPERPLASIA (CAH)

Abstract

The newborn male with salt-losing CAH is at risk for mortality before recognition of the disease. To better define the clinical features of CAH in the newborn period, we have reviewed the records of 45 children with CAH diagnosed before age 4 weeks. In 14 of 27 (52%) families with older children there was a history of early death of a male infant. Affected infants had significantly greater birth length and birth weight than a group of 66 control term infants, and their upper-to-lower segment ratio (U/L) was significantly lower than that found in controls.

In 17 of 19 salt-losing infants the initial sign of a metabolic abnormality was a decline in CO₂ content. Urinary 17-Keto-steroid excretion rose progressively from admission to initiation of therapy, but urinary Pregnanetriol excretion was uniformly low in the first week of life and did not permit distinction between different forms of CAH. The large for dates male infant with a low upper-to-lower segment ratio merits early diagnostic evaluation for CAH despite a negative family history of unexplained neonatal deaths.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD