[Clinical characteristics of 17alpha-hydroxylase/17,20-lyase deficiency and long term follow up results].

OBJECTIVE

To improve the diagnosis and the treatment level of 17alpha-hydroxylase/17,20-lyase deficiency.

METHODS

24 patients suffering from this disease were diagnosed and treated in Peking Union Medical College Hospital from 1978 to 2002. All the patients had comprehensive hormone assay and some had bone mineral density detection.

RESULTS

20 patients with complete combined defect in this study had typical clinical presentation of hypertension and hypokalemia and presented both karyotype 46, XX or 46, XY. All had female external genitalia and lacked spontaneous puberty. The circulating concentrations of cortisol and gonadal steroids were reduced and that of gonadotropin was elevated, whereas in the remaining 4 cases with partial combined deficiencies, adrenal corticotropic hormone stimulating test as well as the results of the sex hormone determination suggested that there was partial 17alpha-hydroxylase/17,20-lyase enzyme activities in their adrenal glands or sexual glands. Long term follow up data showed that in most of the patients, small doses of dexamethasone (0.1 - 0.375 mg per day) could achieve good control of hypertension and correct hypokalemia, but in five patients other drugs were needed for normalization of blood pressure. With sex hormone replacement, the patients could keep adult female appearance, but did not have reproductive function.

CONCLUSIONS

In clinical work it is necessary to enhance the recognition of partial combined 17alpha-hydroxylase/17,20-lyase deficiency. Long term regulation treatment can achieve good control of blood pressure and rectify the low blood potassium.