Abstract
The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis.
Full text
PDF


Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Biglieri E. G., Herron M. A., Brust N. 17-hydroxylation deficiency in man. J Clin Invest. 1966 Dec;45(12):1946–1954. doi: 10.1172/JCI105499. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Givens J. R., Wiser W. L., Summitt R. L., Kerber I. J., Andersen R. N., Pittaway D. E., Fish S. A. Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. N Engl J Med. 1974 Oct 31;291(18):938–944. doi: 10.1056/NEJM197410312911805. [DOI] [PubMed] [Google Scholar]
- Goldsmith O., Solomon D. H., Horton R. Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome. N Engl J Med. 1967 Sep 28;277(13):673–677. doi: 10.1056/NEJM196709282771302. [DOI] [PubMed] [Google Scholar]
- Linquette M., Dupont A., Racadot A., Lefebvre J., May J. P., Cappoen J. P. Deficit en 17-Hydroxylase. A propos d'une observation. Ann Endocrinol (Paris) 1971 Jul-Aug;52(4):574–582. [PubMed] [Google Scholar]
- MATTINGLY D. A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasma. J Clin Pathol. 1962 Jul;15:374–379. doi: 10.1136/jcp.15.4.374. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mallin S. R. Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries. Ann Intern Med. 1969 Jan;70(1):69–75. doi: 10.7326/0003-4819-70-1-69. [DOI] [PubMed] [Google Scholar]
- Mantero F., Busnardo B., Riondel A., Veyrat R., Austoni M. Hypertension artérielle, alcalose hypokaliémique et pseudohermaphrodisme mâle par déficit en 17 alpha-hydroxylase. Schweiz Med Wochenschr. 1971 Jan 16;101(2):38–43. [PubMed] [Google Scholar]
- Moolenaar A. J., van Seters A. P. Gaschromatographic determination of steroids in the urine of patients with Cushing's syndrome. Acta Endocrinol (Copenh) 1971 Jun;67(2):303–315. doi: 10.1530/acta.0.0670303. [DOI] [PubMed] [Google Scholar]
- New M. I. Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. J Clin Invest. 1970 Oct;49(10):1930–1941. doi: 10.1172/JCI106412. [DOI] [PMC free article] [PubMed] [Google Scholar]

