Abstract
A phenotypic female presented initially at the age of 17 years with amenorrhoea and delay of sexual development. Karyotype was male, 46 XY, and as gonads were absent, a diagnosis of congenital anorchia was made. The patient was treated with oestrogen. At the age of 23 years, she re-presented with tall stature and hypertension. She then had normal female habitus but absent pubic and axillary hair. Re-investigation showed that sex steroids and cortisol were absent and established the diagnosis as 17 alpha-hydroxylase deficiency. Treatment with hydrocortisone rapidly corrected the hypertension. Ultrasound examination confirmed the absence of gonads but showed that a small uterus was present. Measurement of serum cortisol is important for recognition of such patients, but further measurements of sex steroids, particularly progesterone, are needed to prove the diagnosis. We have found no previous reports of absent gonads in 17 alpha-hydroxylase deficiency. The association remains unexplained.
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Selected References
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- Abad L., Parrilla J. J., Marcos J., Gimeno F., López Bernal A. Male pseudohermaphroditism with 17 alpha-hydroxylase deficiency. A case report. Br J Obstet Gynaecol. 1980 Dec;87(12):1162–1165. doi: 10.1111/j.1471-0528.1980.tb04491.x. [DOI] [PubMed] [Google Scholar]
- Kagimoto K., Waterman M. R., Kagimoto M., Ferreira P., Simpson E. R., Winter J. S. Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet. 1989 Jun;82(3):285–286. doi: 10.1007/BF00291172. [DOI] [PubMed] [Google Scholar]
- New M. I., Josso N. Disorders of gonadal differentiation and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 1988 Jun;17(2):339–366. [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]
- Yanase T., Sanders D., Shibata A., Matsui N., Simpson E. R., Waterman M. R. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene. J Clin Endocrinol Metab. 1990 May;70(5):1325–1329. doi: 10.1210/jcem-70-5-1325. [DOI] [PubMed] [Google Scholar]
- de Lange W. E., Weeke A., Artz W., Jansen W., Doorenbos H. Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency. Therapy with dexamethasone and ethinyloestradiol. Acta Med Scand. 1973 Jun;193(6):565–571. [PubMed] [Google Scholar]