Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
עודכן לאחרונה 26 יולי 2023
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Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
תיאור
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.
Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (atypical genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.
Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
11 beta hydroxylase deficiency
11b hydroxylase deficiency
Adrenal hyperplasia, hypertensive form
Deficiency of steroid 11-beta-monooxygenase
P450C11B1 deficiency
Steroid 11 beta hydroxylase deficiency
Related patient information and medicines
Patient information leaflet
היפרפלזיה מולדת של האדרנל
היפרפלזיה מולדת של האדרנל הוא inherited (genetic) condition causing swelling of the adrenal glands. The condition is associated with a decrease in the blood level of a hormone called cortisol and an increase in the level of male sex hormones (androgens) in both sexes. Others (mainly baby boys) develo... What is congenital adrenal.
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מחזור חודשי שהוחמץ
Polycystic ovary syndrome (PCOS) PCOS is a common condition which can cause periods to be very infrequent or sometimes stop altogether. Women ... If you are producing either too much hormone ( hyperthyroidism ) or too little ( hypothyroidism ), your periods may be affected. Congenital adrenal hyperplasia. This is a rare inherited condition where.
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מחלת אדיסון
מחלת אדיסון מטופל? a condition in which your adrenal glands are not working as well as they should. In Addis... Other causes Other less common adrenal gland causes include: Other infections which can sometimes affect both adrenals - eg, some bacterial infections (such as meningococcus or pneumococcus ), or HIV. Rare hereditary conditions - for.
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מתכננת להיכנס להריון
This leaflet offers עצה for women who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Hereditary conditions People with a history of a condition that runs in families may wish to have genetic testing before planning a pregnancy. Adult.
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תסמונת קושינג
The ACTH... The abnormal cells in the adenoma are not 'turned down' by feedback from the high levels of cortisol. Adrenal problems There are various rare disorders of the adrenal glands which can cause high levels of cortisol. These include: היפרפלזיה של יותרת הכליה - which means there is increased number and growth of the cells in the adrenal glands..
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חוסמי בטא
חוסמי בטא are תרופות that are used to treat a variety of conditions. Their full correct name is beta-adrenoceptor blocking medicines (or beta-adrenergic blocking agents), but they are commonly just called beta-blockers. How do beta-blockers work. Beta-blockers work by blocking the transmission of certain nerve impulses. The ends of some.
קריאה נוספת והפניות
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; MedlinePlus, National Library of Medicine.
- Krone N, Riepe FG, Gotze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grotzinger J, Peter M, Sippell WG. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8.
- Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008 Apr;19(3):96-9. doi: 10.1016/j.tem.2008.01.002. Epub 2008 Feb 21.
- Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijoo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11beta-hydroxylase deficiency. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20.
- Peter M. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency. Semin Reprod Med. 2002 Aug;20(3):249-54. doi: 10.1055/s-2002-35389.
- Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet A. 2003 Oct 15;122A(3):193-200. doi: 10.1002/ajmg.a.20108.
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