17 alpha-hydroxylase deficiency physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Patients with 17 alpha-hydroxylase deficiency usually appear normal. Physical examination of patients with 17 alpha-hydroxylase deficiency is usually remarkable for gynaecomastia, hypertension, and sexual infantilism.

Physical Examination

Appearance of the Patient

  • Patient is stable and well-appeared

Chest

Vital Signs

Genitourinary

In the partial form of 17 alpha-hydroxylase deficiency:

References

  1. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
  2. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
  3. Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.

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