11β-hydroxylase deficiency history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Mehrian Jafarizade, M.D [2]
Overview
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior
History
- History of pseudoprecocious puberty
- Family history of congenital adrenal hyperplasia
Common Symptoms
Hypertension in children or adolescents, occurs in approximately two-thirds of patients.[1][2][3][4]
In classic form of 11β-hydroxylase deficiency, female are identified with:
- Ambiguous genitalia
- Clitoral enlargement
- Labioscrotal fusion
- Hirsutism
- Menstrual irregularities
- Aggressive behavior
Male presents 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.
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
- Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH
Non-classic type is a rare and mild disease than the classic type.
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.