Severe hypertension with absent secondary sex characteristics due to partial deficiency of steroid 17 alpha-hydroxylase activity.
A genotypically female patient with 17 alpha-hydroxylase deficiency, and typical symptoms of hypertension, hypokalaemia and lack of secondary sex characteristics, is described. Plasma 17 alpha-hydroxycorticosteroid levels (cortisol, 11-deoxycortisol) and oestradiol were low. Those of 11-deoxycorticosterone, corticosterone, their 18-hydroxy- derivatives, ACTH and gonadotrophins were high and, with the exception of the gonadotrophins, suppressed to normal with dexamethasone which also corrected blood pressure (BP) and electrolyte abnormalities. Plasma aldosterone levels, initially suppressed, increased during treatment but, at 3 months, showed some signs of subnormal responsiveness. Possible reasons for this are discussed. The patient remains well after 9 years on dexamethasone and oestrogen therapy.
Fraser
R
R
MRC Blood Pressure Unit, Western Infirmary, Glasgow, UK.
Brown
J J
JJ
Mason
P A
PA
Morton
J J
JJ
Lever
A F
AF
Robertson
J I
JI
Lee
H A
HA
Miller
H
H
D000305:Adrenal Cortex Hormones / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000450:Aldosterone / Q000097:blood; D000804:Angiotensin II / Q000494:pharmacology; D003907:Dexamethasone; D005260:Female; D005665:Furosemide / Q000494:pharmacology; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000201:enzymology / Q000209:etiology*; D007006:Hypogonadism / Q000201:enzymology / Q000209:etiology*; D013250:Steroid Hydroxylases / Q000172:deficiency*
D000305:Adrenal Cortex Hormones; D000804:Angiotensin II; D000450:Aldosterone; D005665:Furosemide; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases