17α-Hydroxylase deficiency in a genetic male and female sibling pair

Irene N. Sills, Margaret H. MacGillivray, James A. Amrhein, Claude J. Migeon, Ralph E. Peterson

Research output: Contribution to journalArticle

Abstract

The diagnosis of congenital adrenal hyperplasia due to a deficiency of the enzyme 17α-hydroxylase was made in a genetic male and female sibling pair born of parents who were first cousins. The genetic male was a phenotypic female who presented with primary amenorrhea and mild hypertension. The genetic female exhibited absence of secondary sexual characteristics and severe hypertension. The plasma steroid data confirmed the diagnosis of 17α-hydroxylase deficiency in both subjects: low 17α-hydroxyprogesterone, elevated desoxycorticosterone, elevated corticosterone and elevated progesterone. These are the first case reports of 17α-hydroxylase deficiency in a male-female sibling pair, and they add support to the hypothesis that this is an autosomal recessive disorder.

Original languageEnglish (US)
Pages (from-to)473-479
Number of pages7
JournalInternational Journal of Gynecology and Obstetrics
Volume19
Issue number6
DOIs
StatePublished - Dec 1981

Keywords

  • 17α-Hydroxylase
  • Autosomal recessive disorder
  • Congenital adrenal hyperplasia
  • Elevated desoxycorticosterone
  • Hypertension
  • Hypokalemia
  • Phenotypic female
  • Sodium retention

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Fingerprint Dive into the research topics of '17α-Hydroxylase deficiency in a genetic male and female sibling pair'. Together they form a unique fingerprint.

  • Cite this

    Sills, I. N., MacGillivray, M. H., Amrhein, J. A., Migeon, C. J., & Peterson, R. E. (1981). 17α-Hydroxylase deficiency in a genetic male and female sibling pair. International Journal of Gynecology and Obstetrics, 19(6), 473-479. https://doi.org/10.1016/0020-7292(81)90007-2