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A case of 17 alpha-hydroxylase deficiency with retained menstruation.
- Source :
-
Endocrine journal [Endocr J] 1994 Apr; Vol. 41 (2), pp. 213-8. - Publication Year :
- 1994
-
Abstract
- A patient with 17 alpha-hydroxylase deficiency (17OHD) who continued to menstruate is reported. A 24-year-old woman who presented with hypertension, hypokalemia and irregular menses had increased plasma ACTH and mineralocorticoids without any increase in glucocorticoids or sex steroids, and a bilateral adrenal enlargement on abdominal X-ray CT. ACTH stimulation test revealed hyperresponse of the metabolites of the mineralocorticoid pathway and blunted or absent response of those of the glucocorticoid and androgen pathway. Almost all of the abnormalities disappeared after dexamethasone administration. While 17OHD is usually known to accompany hypergonadotropic hypogonadism, the patient continued to menstruate, though irregularly. Although human chorionic gonadotropin administration failed to induce response, basal plasma levels of ovarian steroid (estradiol) and gonadotropins as well as response to LHRH stimulation test were all normal. Thus, the clinical and biochemical features of this case is compatible with the partial deficiency of both adrenals and ovaries, being less severe in the latter. A further analysis especially at molecular level is needed to elucidate the basis for the heterogeneity of this disorder.
- Subjects :
- Adult
Chorionic Gonadotropin pharmacology
Estradiol blood
Female
Follicle Stimulating Hormone blood
Gonadotropin-Releasing Hormone pharmacology
Humans
Luteinizing Hormone blood
Menstruation Disturbances blood
Adrenal Hyperplasia, Congenital blood
Adrenal Hyperplasia, Congenital enzymology
Menstruation Disturbances enzymology
Subjects
Details
- Language :
- English
- ISSN :
- 0918-8959
- Volume :
- 41
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Endocrine journal
- Publication Type :
- Academic Journal
- Accession number :
- 7951571
- Full Text :
- https://doi.org/10.1507/endocrj.41.213