3β-Hydroxy-Steroid-Dehydrogenase-Mangel bei einem überlebenden Mädchen mit Salzverlust-Syndrom und normalem weiblichem Genitale

Summary

The case of a 6 1/2 year-old girl with 3ß-hydroxy steroid dehydrogenase deficiency is reported. The child had severe salt-wasting during infancy. After ACTH-administration, the predominant steroid was D⁵-pregnenetriol, which was identified by mass spectrometry. D⁵-pregnenediol was also identified. Testosterone, pregnanetriolone and tetrahydro-S were not detectable. The patient shows some differences compared to the classical description of the syndrome: the external genitalia are normal, and not dehydroepiandrosterone but andro- sterone was the predominant 17-ketosteroid. In addition, pregnanetriol was present. Like the only other surviving patient of our knowledge (Bongiovanni), this girl has most likely a partial 3ß-hydroxy steroid dehydrogenase deficiency.

Mit Unterstützung des Schweiz. Nationalfonds zur Förderung der wissenschaftlichen Forschung (Nr. 3.68.68).