11β-hydroxylase deficiency overview: Difference between revisions

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{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}}
{{11β-hydroxylase deficiency}}
{{CMG}}; {{AE}} {{Ammu}}
 
{{CMG}}; {{AE}} {{MJ}}
==Overview==
==Overview==
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency arises due to a defect in the [[gene]] encoding the [[enzyme]] steroid 11β-hydroxylase which mediates the final step of [[cortisol]] synthesis in the [[adrenal gland|adrenal]]. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated steroids. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may be classified according to clinical presentation into 2 subtypes: classic form and the non-classic form. Mutations in the ''CYP11B1'' gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as [[adrenal crisis]], [[conn syndrome]], [[gastric outlet obstruction]], [[congenital adrenal hyperplasia due to 17-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]], [[hypertension]], [[hypokalemia]], [[hypomagnesemia]], [[infertility]], [[polycystic ovarian syndrome]], [[malignant hypertension]], [[Stein-Leventhal syndrome]], and [[viral gastroenteritis]]. The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals the United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. The most potent risk factor in the development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is the presence of [[family history]] of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Prenatal screening for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency by injection a dose of 11-deoxycortisol into the [[amniotic fluid]] is recommended for patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. If left untreated, patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may progress to develop malignant hypertension. Common complications of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include [[muscle weakness]], [[metabolic alkalosis]], and [[azoospermia]]. [[Prognosis]] is generally good with treatment. On abdominal [[CT scan]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. On abdominal [[MRI]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. Immunohistochemical staining of the adrenal gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells. The mainstay of therapy for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is glucocorticoid therapy. The predominant therapy for ambiguous genitalia in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is the surgical correction.
11β-hydroxylase deficiency is the second most common type of [[congenital adrenal hyperplasia]]. This disease results from a defect in [[CYP11B1]] on [[chromosome 8]]. [[CYP11B1]] [[gene]] encodes an enzyme called [[11β-hydroxylase]] in the path of [[steroid biosynthesis]]. Lack of [[11β-hydroxylase]] enzyme in different amounts results in accumulation of [[Deoxycortisol|11-deoxycortisol]], and decrease amounts of [[cortisol]] and [[11-deoxycorticosterone]]. The most potent [[risk factor]] in the development of 11β-hydroxylase deficiency is the presence of [[family history]] of 11β-hydroxylase deficiency. 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]]. Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], elevated [[androstenedione]], elevated urinary 17-ketosteroids, and decreased [[renin]]. Treatment for 11β-hydroxylase deficiency in children is administration of [[glucocorticoids]]. The treatment option in women is spironolactone. Girls with [[ambiguous genitalia]] mostly undergo [[reconstructive surgery]] such as clitoroplasty and [[vaginoplasty]].
 
==Historical Perspective==
==Historical Perspective==
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated steroids.<ref name="pmid13376579">{{cite journal| author=BONGIOVANNI AM, EBERLEIN WR| title=Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. | journal=J Biol Chem | year= 1956 | volume= 223 | issue= 1 | pages= 85-94 | pmid=13376579 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13376579  }} </ref> In 1999,  White was the first to discover the association between homozygous mutation in the ''CYP11B1'' gene and development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.<ref name="pmid2022736">{{cite journal| author=White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A| title=A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. | journal=J Clin Invest | year= 1991 | volume= 87 | issue= 5 | pages= 1664-7 | pmid=2022736 | doi=10.1172/JCI115182 | pmc=PMC295260 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2022736  }} </ref>
11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated [[steroids]]. In 1999,  White was the first to discover the association between homozygous [[mutation]] in the [[CYP11B1]] [[gene]] and development of 11β-hydroxylase deficiency.
==Classification==
==Classification==
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may be classified according to clinical presentation into 2 subtypes: classic form and the non-classic form.
11β-hydroxylase deficiency may be classified according to the clinical presentation into 2 subtypes: the classic form and the non-classic form of the 11β-hydroxylase deficiency.
==Pathophysiology==
==Pathophysiology==
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency arises due to a defect in the [[gene]] encoding the [[enzyme]] [[steroid 11β-hydroxylase]] which mediates the final step of [[cortisol]] synthesis in the [[adrenal gland|adrenal]]. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is transmitted in [[autosomal recessive]] pattern. On gross pathology, thickening of [[adrenal gland]] and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid-depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
11β-Hydroxylase deficiency is a type of [[congenital adrenal hyperplasia]] resulting from a defect in [[CYP11B1]] on [[chromosome 8]]. [[CYP11B1]] [[gene]] encodes an enzyme called [[11β-hydroxylase]] in the path of [[steroid biosynthesis]]. This enzyme is located in the zona fasciculate, and converts [[Deoxycortisol|11-deoxycortisol]] to [[cortisol]] and [[11-deoxycorticosterone]]. Lack of [[11β-hydroxylase]] enzyme in different amounts results in accumulation of [[Deoxycortisol|11-deoxycortisol]], and decrease amounts of [[cortisol]] and [[11-deoxycorticosterone]]. There is an elevation of [[adrenocorticotropic hormone]] results in overproduction of [[11-deoxycorticosterone]] (DOC) by mid-childhood. [[11-deoxycorticosterone]] is a weak [[mineralocorticoid]], but because of high amounts in this disease can cause [[mineralocorticoid excess]] effects such as salt retention, volume expansion, and [[hypertension]]. Non-classic forms mostly doesn't have verifiable [[mutations]] and mild 11β-hydroxylase deficiency is currently considered a very rare cause of [[hirsutism]] and [[infertility]].
==Causes==
==Causes==
Mutations in the ''CYP11B1'' gene cause Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Mutations in the [[CYP11B1]] gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.
==Differentiating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency from other Diseases==
 
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as [[adrenal crisis]], [[conn syndrome]], [[gastric outlet obstruction]], [[congenital adrenal hyperplasia due to 17-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]], [[hypertension]], [[hypokalemia]], [[hypomagnesemia]], [[infertility]], [[polycystic ovarian syndrome]], [[malignant hypertension]], [[Stein-Leventhal syndrome]], and [[viral gastroenteritis]].
==11β-hydroxylase deficiency from other Diseases==
11β-hydroxylase deficiency must be differentiated from diseases that cause [[ambiguous genitalia]] such as [[21-hydroxylase deficiency]], [[17 alpha-hydroxylase deficiency]], 3 beta-hydroxysteroid dehydrogenase deficiency and Gestational [[hyperandrogenism]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals the United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually affects individuals of the Jewish race.
The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals the United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually affects individuals of the Jewish race.
==Risk Factors==
==Risk Factors==
The most potent risk factor in the development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is the presence of [[family history]] of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
The most potent [[risk factor]] in the development of 11β-hydroxylase deficiency is the presence of [[family history]] of 11β-hydroxylase deficiency..
==Screening==
==Screening==
Prenatal screening for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency by injection a dose of 11-deoxycortisol into the amniotic fluid is recommended for patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
There is insufficient evidence to recommend routine screening for 11β-hydroxylase deficiency.
==Natural history, Complications and Prognosis==
==Natural history, Complications and Prognosis==
If left untreated, patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may progress to develop [[malignant hypertension]]. Common complications of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include [[muscle weakness]], [[metabolic alkalosis]], and [[azoospermia]]. [[Prognosis]] is generally good with treatment.
If left untreated, patients with 11β-hydroxylase deficiency may progress to develop [[malignant hypertension]]. Common [[complications]] of 11β-hydroxylase deficiency include [[muscle weakness]], [[metabolic alkalosis]], [[menstrual irregularities]] in women, [[acne]], [[hirsutism]], and [[infertility]]. Prognosis is generally good with treatment.
==History and Symptoms==
==History and Symptoms==
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include [[acne]], [[oligomenorrhea]], and aggressive behavior.
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]].
==Physical Examination==
==Physical Examination==
Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hyperpigmentation]], [[hypertension]], and ambiguous genitalia.
Patients with 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with 11β-hydroxylase deficiency is usually remarkable for [[Gynaecomastia|gynecomastia]], [[hyperpigmentation]], [[hypertension]], and [[ambiguous genitalia]].
==Laboratory Findings==
==Laboratory Findings==
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.
Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], elevated [[androstenedione]], elevated urinary 17-ketosteroids, and decreased [[renin]].
==CT==
==CT==
On abdominal [[CT scan]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
On abdominal [[CT scan]], 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
==MRI==
==MRI==
On abdominal [[MRI]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
On abdominal [[MRI]], 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
==Ultrasound==
==Ultrasound==
[[Ultrasound]] may be helpful in the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Findings on [[ultrasound]] suggestive of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include testicular masses, adnexal structures, and gonadal abnormalities.
On [[ultrasound]], 11β-hydroxylase deficiency is characterized by enlarged, wrinkled, and cerebriform [[adrenal glands]]. Also [[testicular masses]] can be seen in the setting of classical disease.


==Other Imaging Findings==
==Other Imaging Findings==
Immunohistochemical staining of the adrenal gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells.
There is no other imaging studies available for the diagnosis of 11β-hydroxylase deficiency.
==Other Diagnostic Studies==
==Other Diagnostic Studies==
Immunohistochemical staining of the adrenal gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells.
[[Prenatal diagnosis]] may be used in diagnosis of 11β-hydroxylase deficiency. Different tests which may be used are: [[amniotic fluid]] sampling and oligonucleotide [[hybridization]] of [[deoxyribonucleic acid]] ([[DNA]]) obtained from [[Chorionic villus sampling|chorionic villus biopsies]]; and utilize fetal [[DNA]] extracted from maternal blood through noninvasive methods.
==Medical Therapy==
==Medical Therapy==
The mainstay of therapy for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is [[glucocorticoid|glucocorticoid therapy]].
Treatment for 11β-hydroxylase deficiency in children is administration of [[glucocorticoids]]. The response to therapy should be monitored by laboratory tests and clinical findings. The treatment option in women is spironolactone. If pregnancy is not desired, [[spironolactone]] plus [[oral contraceptive pills]] can be combined with replacement doses of [[hydrocortisone]]. In adult males, replacement doses of [[hydrocortisone]] should be administered to avoid the development of [[Adrenal tumor|adrenal rest tumors]].
==Surgery==
==Surgery==
The predominant therapy for ambiguous genitalia in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is the surgical correction.
In patients with 11β-hydroxylase deficiency, girls with [[ambiguous genitalia]] mostly undergo [[reconstructive surgery]] such as clitoroplasty and [[vaginoplasty]].
==Prevention==
==Prevention==
Prenatal diagnosis of 11-beta-hydroxylase deficiency is conducted to prevent the complication of the disease in future life and treated with prenatal dexamethasone treatment.
[[Prenatal diagnosis]] of 11β-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal [[dexamethasone]] treatment.
==Reference==
==Reference==
{{Reflist}}
{{Reflist}}

Latest revision as of 17:27, 3 August 2017

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

Overview

11β-hydroxylase deficiency is the second most common type of congenital adrenal hyperplasia. This disease results from a defect in CYP11B1 on chromosome 8. CYP11B1 gene encodes an enzyme called 11β-hydroxylase in the path of steroid biosynthesis. Lack of 11β-hydroxylase enzyme in different amounts results in accumulation of 11-deoxycortisol, and decrease amounts of cortisol and 11-deoxycorticosterone. The most potent risk factor in the development of 11β-hydroxylase deficiency is the presence of family history of 11β-hydroxylase deficiency. 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. Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin. Treatment for 11β-hydroxylase deficiency in children is administration of glucocorticoids. The treatment option in women is spironolactone. Girls with ambiguous genitalia mostly undergo reconstructive surgery such as clitoroplasty and vaginoplasty.

Historical Perspective

11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated steroids. In 1999, White was the first to discover the association between homozygous mutation in the CYP11B1 gene and development of 11β-hydroxylase deficiency.

Classification

11β-hydroxylase deficiency may be classified according to the clinical presentation into 2 subtypes: the classic form and the non-classic form of the 11β-hydroxylase deficiency.

Pathophysiology

11β-Hydroxylase deficiency is a type of congenital adrenal hyperplasia resulting from a defect in CYP11B1 on chromosome 8. CYP11B1 gene encodes an enzyme called 11β-hydroxylase in the path of steroid biosynthesis. This enzyme is located in the zona fasciculate, and converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone. Lack of 11β-hydroxylase enzyme in different amounts results in accumulation of 11-deoxycortisol, and decrease amounts of cortisol and 11-deoxycorticosterone. There is an elevation of adrenocorticotropic hormone results in overproduction of 11-deoxycorticosterone (DOC) by mid-childhood. 11-deoxycorticosterone is a weak mineralocorticoid, but because of high amounts in this disease can cause mineralocorticoid excess effects such as salt retention, volume expansion, and hypertension. Non-classic forms mostly doesn't have verifiable mutations and mild 11β-hydroxylase deficiency is currently considered a very rare cause of hirsutism and infertility.

Causes

Mutations in the CYP11B1 gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.

11β-hydroxylase deficiency from other Diseases

11β-hydroxylase deficiency must be differentiated from diseases that cause ambiguous genitalia such as 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency and Gestational hyperandrogenism.

Epidemiology and Demographics

The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals the United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually affects individuals of the Jewish race.

Risk Factors

The most potent risk factor in the development of 11β-hydroxylase deficiency is the presence of family history of 11β-hydroxylase deficiency..

Screening

There is insufficient evidence to recommend routine screening for 11β-hydroxylase deficiency.

Natural history, Complications and Prognosis

If left untreated, patients with 11β-hydroxylase deficiency may progress to develop malignant hypertension. Common complications of 11β-hydroxylase deficiency include muscle weakness, metabolic alkalosis, menstrual irregularities in women, acne, hirsutism, and infertility. Prognosis is generally good with treatment.

History and Symptoms

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.

Physical Examination

Patients with 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with 11β-hydroxylase deficiency is usually remarkable for gynecomastia, hyperpigmentation, hypertension, and ambiguous genitalia.

Laboratory Findings

Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin.

CT

On abdominal CT scan, 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.

MRI

On abdominal MRI, 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.

Ultrasound

On ultrasound, 11β-hydroxylase deficiency is characterized by enlarged, wrinkled, and cerebriform adrenal glands. Also testicular masses can be seen in the setting of classical disease.

Other Imaging Findings

There is no other imaging studies available for the diagnosis of 11β-hydroxylase deficiency.

Other Diagnostic Studies

Prenatal diagnosis may be used in diagnosis of 11β-hydroxylase deficiency. Different tests which may be used are: amniotic fluid sampling and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus biopsies; and utilize fetal DNA extracted from maternal blood through noninvasive methods.

Medical Therapy

Treatment for 11β-hydroxylase deficiency in children is administration of glucocorticoids. The response to therapy should be monitored by laboratory tests and clinical findings. The treatment option in women is spironolactone. If pregnancy is not desired, spironolactone plus oral contraceptive pills can be combined with replacement doses of hydrocortisone. In adult males, replacement doses of hydrocortisone should be administered to avoid the development of adrenal rest tumors.

Surgery

In patients with 11β-hydroxylase deficiency, girls with ambiguous genitalia mostly undergo reconstructive surgery such as clitoroplasty and vaginoplasty.

Prevention

Prenatal diagnosis of 11β-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.

Reference