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Article

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Dec 2000

L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y

Abstract excerpt

A case of nonclassic (NC) 21-hydroxylase deficiency, with a moderately elevated 17-hydroxyprogesterone level (145 nmol/L in filter paper blood spot), was detected in newborn screening. The newborn's phenotype was female, with no sign of virilization. Confirmatory diagnosis revealed elevated serum levels of 17-hydroxyprogesterone and of 21-desoxycortisol, whereas cortisol, PRA, and electrolytes were normal....

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PMID: 11134109
DOI: 10.1210/jcem.85.12.7018

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