Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
17 alpha-hydroxylase deficiency physical examination
Introduction
Overview
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
Physical Examination
Appearance of the Patient
- Patient is stable and well-appeared
Chest
Vital Signs
Genitourinary
- Sexual infantilism
- No pubic or axillary hair
In the partial form of 17 alpha-hydroxylase deficiency:
- Ambiguous genitalia in genetically pre-puberty male patients with inguinal testes and a blind vaginal pouch.[1][2][3]
References
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]