Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
BACKGROUND
Deficiency of 17α-hydroxylase (17OHD) is a rare form of adrenal hyperplasia. Diagnosis is generally delayed, impairing appropriate treatment.


CASE PRESENTATION
Here, we report the clinical, molecular, hormonal, and treatment data of three unrelated 17OHD patients, aged 14-16 years with hypergonadotrophic hypogonadism; uncontrolled hypertension; primary adrenal insufficiency; and high progesterone, low to normal potassium, and low dehydroepiandrosterone, androstenedione, and testosterone levels. Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) at baseline and after an adrenocorticotropic hormone test showed low cortisol and cortisone and high deoxycorticosterone (DOC) and corticosterone levels; both DOC/21-deoxycortisol and costicosterone/cortisol ratios were very high. Patient 2 had 46,XX karyotype and patients 1 and 3, had 46,XY. A molecular analysis showed that two of the patients were homozygous for p.W406R mutation and the other patient was compound heterozygous for p.W406R and p.P428L. Hypertension was controlled only after the administration of both prednisone and mineralocorticoid antagonist.


CONCLUSIONS
Hypertension in young women must lead to diagnostic suspicion, even in the pre-pubertal period. The basal level of progesterone is an indicator of 17OHD. Mineral and glucocorticoid ratios obtained from LC-MS/MS can reinforce the diagnosis. Hypertension can be controlled using glucocorticoid replacement therapy and mineralocorticoid antagonist.
['Breder|Ikaro Soares Santos|ISS|', 'Garmes|Heraldo Mendes|HM|', 'Mazzola|Tais Nitsch|TN|', 'Maciel-Guerra|Andrea Trevas|AT|', 'de Mello|Maricilda Palandi|MP|', 'Guerra-Júnior|Gil|G|']
D000293:Adolescent D000312:Adrenal Hyperplasia, Congenital D000324:Adrenocorticotropic Hormone D000328:Adult D001938:Brazil D002648:Child D005260:Female D006801:Humans D008901:Mineralocorticoids D011374:Progesterone D011379:Prognosis D013254:Steroid 17-alpha-Hydroxylase D055815:Young Adult
17α-hydroxylase hypogonadism hypertension