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.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency history and symptoms
Introduction
Overview
Overview
Symptoms of 11β-hydroxylase deficiency include female patients with ambiguous genitalia, clitoromegaly, labial fusion, hirsutism, menstrual irregularities, aggressive behavior; male patients present with increased penile size in newborns, acne. Children who are not diagnosed at birth, may present with premature adrenarche, adult body odor, axillary and pubic hair development, faster growth and bone age in premature adrenarche.
Common Symptoms
Common Symptoms
In classic form of 11β-hydroxylase deficiency, male and female and children clinical findings are as follows:
Female
- Ambiguous genitalia
- Clitoromegaly
- Labial fusion
- Hirsutism
- Menstrual irregularities
- Aggressive behavior
Male
Children
Children who are not diagnosed at birth, may present with:
- Premature adrenarche
- Adult body odor
- Axillary and pubic hair development
- Faster growth and bone age in premature adrenarche
- Hypertension in children or adolescents, occurs in approximately two-thirds of patients[1][2][3][4]
Less Common Symptoms
Less Common Symptoms
Female
- Cognitive function disturbance such as IQ impairment
- Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
Male
- Testicular masses due to testicular adrenal rest tumors; these tumors caused by high level of ACTH
- Gonadal dysfunction as a result of testicular adrenal rest tumors
- Infertility due to seminiferous tubule obstruction
Non-classic type is a rare and mild disease than the classic type.
References
References
- ↑ White PC, Curnow KM, Pascoe L (1994). “Disorders of steroid 11 beta-hydroxylase isozymes”. Endocr. Rev. 15 (4): 421–38. doi:10.1210/edrv-15-4-421. PMID 7988480.
- ↑ de Simone G, Tommaselli AP, Rossi R, Valentino R, Lauria R, Scopacasa F, Lombardi G (1985). “Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension”. Hypertension. 7 (2): 204–10. PMID 2984117.
- ↑ Hochberg Z, Benderly A, Kahana L, Zadik Z (1986). “Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency”. J. Clin. Endocrinol. Metab. 63 (1): 36–40. doi:10.1210/jcem-63-1-36. PMID 3011843.
- ↑ Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984). “Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency)”. J. Clin. Endocrinol. Metab. 58 (2): 384–7. doi:10.1210/jcem-58-2-384. PMID 6607265.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Mehrian Jafarizade, M.D [2]