Adrenal enzymatic deficiencies

  • The adrenal gland produces different hormones including cortisol. The sequence of steps involved in the production of this hormone could be interrupted or slowed down by total or relative deficiencies in the enzymes necessary for the completion of these steps.

  • Partial enzyme deficiencies could be seen at puberty and are described as of ‘adult onset’. The most common variety is partial deficiency of the 21-hydroxylase enzyme to different extents in different patients. It is a genetically predisposed problem inherited from either or both parents. It could present with symptoms and signs similar to those described for PCOS. In fact the ovaries are polycystic in virtually 100% of the cases.

  • Certain ethnic groups including Ashkenazi Jews and Hispanics are more predisposed to this problem than others. It is importante to investigate other members of the immediate family if one member is so inflicted.

  • To test for this problem a blood test for 17 hydroxyprogesterone should be taken early in the morning as the test is most sensitive at that time. In marginal or non conclusive cases a dynamic test would be needed. A blood sample should be tested before and one hour after injecting a bolus dose of synacthen. Patients with 21 hydroxylase deficiency would have an exaggerated response of 17 hydroxyprogesterone production.

  • Women with such a problem are relatively deficient in cortisol and would need cortisol supplements to correct the problem. This is safe when used for that purpose under supervision as it is used to correct a deficiency rather than an add on medication.

 
 
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