11β-hydroxylase deficiency history and symptoms

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

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.

In classic form of 11β-hydroxylase deficiency, male and female and children clinical findings are as follows:

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]

Cognitive function disturbance such as IQ impairment
Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)

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.

↑ 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.