Endocrine Abstracts

Introduction: Enzyme block is a rare disorder that can be discovered at birth by a severe, life-threatening disorder or in a more attenuated form in adulthood by a clinical picture of hyperandrogenism most often. The enzyme block most commonly suspected in high blood pressure is 11 B OH blockWe report the case of a young patient who was diagnosed with 21 hydroxylase enzyme block by secondary hypertension testing.

Observation: This is a 32 year old patient without any notion of familial hypertension or salt loss syndrome in the family, followed for hypertension for 8 years, i.e the age of 24 years on dual therapy and whose evolution was marked by hypokalaemia motivating an exploration in the sens of secondary high blood pressure. Endoctrine investigations revealed an adrenal mass of 3.5 cm, density >10 and a wach or relative 34% and without associated hyperplasia. The secretary balance related to the dosage of FLU, DOC, SDHA, SRAA as well as the DM strictly normal income. In addition, the patient is monitored for primary infertility with the use of IVF without conclusive results and in whom the examination does not find any manifest clinical biological androgenism. In this sense, the dosage of 17progestogen hydroxy is raised to 8 ng/ml as well as del4A raised to 1.6 ng/ml thus diagnosing late 21 hydroxylase enzyme block.

Discussion: 21 hydroxylase block is the most common form and accounts for 80% of enzyme blocks, and diagnosis is usually made by measuring 17 progestogen hydroxy in the morning in the follicular phase with the progestogen test for amenorrhea. A value greather than 5 ng/ml makes it possible to make the diagnosis, which can be confirmed by the synacthene test with a valur required at 10 ng/ml in order to be able to confirm the latter. Treatment is with frenzator doses of hydrocortisone.

Conclusion: Late 21 hydroxylase enzyme block may be found in the less suggestive table, but should always be considered in the presence of primary or secondary infertility even in the absence of hyperandrogenism.