[Primary amenorrhea and arterial hypertension in a case of 17 alpha-hydroxylase deficiency].
A 28 year old patient presented with primary amenorrhoea, streak ovaries, mosaicism with 46,XX/47,XXX, hypertension resistant to a tri-therapy and osteoporosis. The presence of hypergonadotropic hypogonadism, increased levels of corticosterone and desoxycorticosterone, a decreased response of cortisol and aldosterone to i.v. ACTH were characteristic of a 17 alpha-hydroxylase deficiency. Administration of 0.5 mg of dexamethasone normalized the blood pressure. Genetic origin of this disease and the different aspects of the ovaries that have been observed are discussed.
Martin-Du Pan
R C
RC
Clinique de Stérilité et d'Endocrinologie Gynécologique, Hôpital Cantonal Universitaire de Genève, Suisse.
Dahoun
S
S
Stalberg
A
A
Campana
A
A
D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000450:Aldosterone / Q000097:blood; D000568:Amenorrhea / Q000209:etiology*; D003345:Corticosterone / Q000097:blood; D003900:Desoxycorticosterone / Q000097:blood; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology*; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics; D010024:Osteoporosis / Q000209:etiology*; D010049:Ovarian Diseases / Q000209:etiology* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome
D003900:Desoxycorticosterone; D000450:Aldosterone; D003907:Dexamethasone; D003345:Corticosterone
Aménorrhée primaire et hypertension artérielle dans un cas de déficit en 17 alpha-hydroxylase.