Abstract
In male infants variable degrees of sexual ambiguity and salt loss are typical features of 3βHSD deficiency.- We have observed 4 patients with unequivocal 3βHSD deficiency. 3rd degree hypospadias, but largely different hormonal and clinical pattern. Casel (Turkish origin) : markedly elevated 17OHPreg(Preg), nl Cortisol (F), ACTH, no salt loss. Case 2(German origin):17OHPreg clearly elevaled.nl F and ACTH, moderate salt loss. Case 3 (Afghani origin):high 17OHPreg, high ACTH, low F, severe salt loss.Case4(German origin) congenital hypothyreoidism, high stimulated 17OHPreg and DHEA despite DEXA treatment (0.3 mg od for BPD), salt loss.
In casel a homozygous missence mutation of the type II 3β-HSD gene due to a substitution that converts AIa 245 into Pro was detected. Gene expression in non steroid-producing cells revealed an enzyme activity of ∼10 % compared to the wild-type gene which could explain the patient's normal salt retaining capacity. In case 3 a homozygous point mutation of the type II gene has been detected, which has to be further evaluated. In cases 2 and 4 molecular analyses are in progress. In conclusion: The determination of the molecular basis of individual cases with evidence of 3β-HSD deficiency will eventually lead to a better understanding of the wide heterogeneity of severe and mild forms of this disease and should provide important informations concerning the structure-function relationship of the 3β-HSD gene family.
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Heinrich, U., Beltendorf, M., Grulich-Henn, J. et al. THE HETEROGENEITY OF 3β-HYDROXYSTEROID DEHYDRO GENASE (3β-HSD) DEFICIENCY - REPORT OF 4 CASES. Pediatr Res 33 (Suppl 5), S20 (1993). https://doi.org/10.1203/00006450-199305001-00100
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DOI: https://doi.org/10.1203/00006450-199305001-00100