Abstract
An eight weeks old boy, first child to nonconsanguineous parents of Swedish extraction, presented with severe dehydration and salt loss. Plasma Na 109 and plasma K 8.7mval/l. He had a phallus 1,5 cm in length, meatus in the peniscrotal junction and a bifid scrotum with gonads on both sides. Normal blood pressure. After rehydration and hydrocortison i.v. the boy was substituted with 10 mg hydrocortison and 0.05 mg fludrocortison daily. Steroids in 24 hours collection of urine were analysed by capillary gas chromatography mass spectrometry. More than 90% of the steroids were 3beta-5-en steroids mainly androst-5-en-3,17,20-triol, 16 alphahydroxy-DHA and pregn-5-en3,17,20-triol. Plasma levels of 17-OH-P, DHA, androstendion and aldosteron were analysed by RIA. During the salt crisis aldosteron was 1650 pmol/L and decreased to 775 during substitution. During ACTH stimulation 17 OH-P and androstendion were 7 and 2,4 nmol/L respectively which is lower than usually seen in 21 hydroxylasedeficient children in poor control.
We find the case consistent with 3bHSD deficiency of partial but still salt loosing type.
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Wilton, P., Curstedt, T. CONGENITAL ADRENAL HYPERPLASIA DUE TO 3 beta-HYDROXYSTEROID DEHYDROGENASE (3bHSD) DEFICIENCY. Pediatr Res 18, 1227 (1984). https://doi.org/10.1203/00006450-198411000-00156
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DOI: https://doi.org/10.1203/00006450-198411000-00156