Abstract
A 3 β OH-D deficiency was demonstrated in 4 boys with ambiguous genitalia and 1 girl with clitoromegaly aged 12 days to 4 years. Salt loss was overt in 3 cases, mild in 1, and in 1 was only detected by high plasma renin activity. Plasma dehydroepiandrosterone (DHA) was elevated according to age in all 5 patients (12 to 160 ng/ml), with an increased DHA/Δ 4 androstenedione (Δ 4 A) ratio,Δ4 A itself being slightly elevated in 3. All patients had increased plasma levels of 17 OH-progesterone (17 OH-P), 2.8 to 13.3 ng/ml, lower than in 21-hydroxylase deficiency.
These data demonstrate 1/ that measurement of plasma DHA andΔ4 A allows easy diagnosis of 3 β OH-D deficiency, with or without apparent salt loss ; 2/ that a limited increase of 17 OH-P, possibly related to an extra-adrenal 3 β OH-D activity, may paradoxically be an index leading to further diagnosis of 3 β OH-D deficiency based upon elevated DHA/Δ4 A ratio.
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Gendrel, D., Chaussain, J., Roger, M. et al. Plasma steroids in 3 beta-hydroxysteroid deshydrogenase (3 β OH-D) deficiency. Pediatr Res 13, 1194 (1979). https://doi.org/10.1203/00006450-197910000-00081
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DOI: https://doi.org/10.1203/00006450-197910000-00081
