11β-hydroxylase deficiency history and symptoms: Difference between revisions

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==Overview==
==Overview==
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior
Symptoms of 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior
==History==
==History==
* History of pseudoprecocious puberty
* History of pseudo-[[precocious puberty]]
* Family history of congenital adrenal hyperplasia
* Family history of congenital adrenal hyperplasia
==Common Symptoms==
==Common Symptoms==

Revision as of 15:01, 3 August 2017

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

Overview

Symptoms of 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior

History

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

  1. 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.
  2. 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.
  3. 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.
  4. 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.