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 history and symptoms
Introduction
Overview
Overview
Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.
Symptoms
Symptoms
Symptoms of 17 alpha-hydroxylase deficiency include:[2][3][1]
- Delayed puberty
- Primary amenorrhea
- Absence of secondary sexual characteristics
- Minimal body hair
References
References
- ↑ 1.0 1.1 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.
- ↑ 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]