Efforts will continue to identify older individuals with congenital adrenal hyperplasia due to 3-beta-hydroxy steroid dehydrogenase deficiency (HSD). The first descriptions of this disorder by the principal investigator were confined to infants. Since the original description several cases have now been described in older individuals which appear to be of late onset. Attention will be focused on adolescent females with late onset virilization and menstrual irregularity. Such subjects will first be screened as is usual in our diagnostic procedure to see whether the serum dehydroepiandrosterone (DHA) and 16-OH-DHA are elevated. This will be done by radioimmunoassay. So far we have found that most subjects show sharp elevations of these compounds which are easily suppressed. Those individuals who fit these criteria will then be studied by determining the complete urinary steroid pattern by gas liquid chromatography. The studies will be repeated with both suppression with Decadron and stimulation with ACTH. Past efforts in identifying newborn infants with ambiguous genitalia will continue in the course of which the exact form of the disease will be identified with particular reference to HSD deficiency. At a later date we shall attempt to study heterozygotes by employing parents and siblings with the same techniques.
| Cara, J F; Moshang Jr, T; Bongiovanni, A M et al. (1985) Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency. N Engl J Med 313:618-21 |
