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Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis.
- Source :
-
Acta endocrinologica [Acta Endocrinol (Copenh)] 1981 Oct; Vol. 98 (2), pp. 267-73. - Publication Year :
- 1981
-
Abstract
- Two cases of 17 alpha-hydroxylase deficiency are described. Both patients had primary amenorrhoea, total lack of female secondary sexual characteristics, slight hypertension and hypokalaemia. One patient was of male genotype (male pseudohermaphrodite), and in addition this patient had complete gonadal agenesis. The other patient was of female genotype. In both patients the level of plasma corticosterone was markedly increased, whereas the concentration of plasma cortisol was very low and plasma aldosterone low within the normal range. Furthermore, the plasma ACTH level was significantly increased and the plasma renin activity around the lower normal limit. The urinary excretion of corticosterone metabolites was markedly increased, whereas the excretion of both cortisol metabolites and tetrahydroaldosterone was decreased. The patients had no symptoms of glucocorticoid deficiency. Treatment with dexamethasone 0.5 mg daily completely suppressed the abnormal corticosterone production and normalized both blood pressure and serum potassium. In addition, the patient of male genotype has received sequential therapy with oestrogen and gestagen for 3 years, but so far no development of the secondary sexual characteristics has occurred.
- Subjects :
- 17-Ketosteroids urine
Adolescent
Adrenocorticotropic Hormone blood
Adult
Aldosterone blood
Corticosterone metabolism
Dexamethasone therapeutic use
Estrogens urine
Female
Genotype
Gonadal Dysgenesis drug therapy
Gonadal Dysgenesis genetics
Humans
Hydrocortisone metabolism
Male
Progesterone blood
Renin blood
Adrenal Hyperplasia, Congenital
Gonadal Dysgenesis enzymology
Steroid Hydroxylases deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0001-5598
- Volume :
- 98
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Acta endocrinologica
- Publication Type :
- Academic Journal
- Accession number :
- 6270940
- Full Text :
- https://doi.org/10.1530/acta.0.0980267