Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

An autosomal recessive form of congenital adrenal hyperplasia due to defective CORTICOSTEROID biosynthesis, which results in ANDROGEN excess, VIRILIZATION, and HYPERTENSION. The defect causes decreased synthesis of CORTISOL and CORTICOSTERONE in the ZONA FASCICULATA of the ADRENAL GLAND, resulting in accumulation of the precursors CORTODOXONE and 11-deoxycorticosterone, resulting in arterial hypertension. Mutations in the CYP11B1 gene have been identified. OMIM: 202010

Also Known As:

11 Beta Hydroxylase Deficiency; 11-Beta-hydroxylase deficiency; 11B Hydroxylase Deficiency; Adrenal Hyperplasia IV; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency; Adrenal Hyperplasia, Hypertensive Form; Adrenal hyperplasia 4; Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency; CYP11B1 deficiency congenital; Congenital adrenal hyperplasia type 4; Hypertensive form of adrenal hyperplasia; Increased urinary 11-deoxytetrahydrocorticosterone level; P450C11B1 deficiency; Steroid 11 Beta Hydroxylase Deficiency; Steroid 11-Beta-Hydroxylase Deficiency; congenital CYP11B1 deficiency

Networked: 99 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
2.	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
3.	Hypertension (High Blood Pressure)
4.	Virilism (Virilization)
5.	Hirsutism

Experts

1.	Baldazzi, Lilia: 2 articles (05/2020 - 05/2014)
2.	Balsamo, Antonio: 2 articles (05/2020 - 05/2014)
3.	Fanelli, Flaminia: 2 articles (05/2020 - 05/2014)
4.	Grötzinger, Joachim: 2 articles (05/2020 - 05/2014)
5.	Holterhus, Paul-Martin: 2 articles (05/2020 - 05/2014)
6.	Kulle, Alexandra E: 2 articles (05/2020 - 05/2014)
7.	Menabò, Soara: 2 articles (05/2020 - 05/2014)
8.	Polat, Seher: 2 articles (05/2020 - 05/2014)
9.	Riepe, Felix G: 2 articles (05/2020 - 05/2014)
10.	Bulsari, Krupali: 2 articles (03/2018 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:

1.	SteroidsIBA 03/01/2001 - "Of the monogenic disorders, steroid 21- and 11 beta-hydroxylase deficiency are two of the few in which prenatal treatment is effective and influences postnatal life." 06/01/1995 - "The occurrence of 11 beta-hydroxylase deficiency of 17-hydroxylated steroids only, however, remains enigmatic. " 11/01/1989 - "Patients having increased levels of the three indicated steroids are diagnosed as having combined 21- and 11 beta-hydroxylase deficiency. " 03/01/1986 - "Plasma and urinary steroid measurements are reported in 2 normotensive newborn female siblings with virilized external genitalia due to 11 beta-hydroxylase deficiency. " 03/01/1986 - "Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine."
2.	Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)IBA 10/01/1997 - "In this study we report analysis of the CYP11B1 genes of three patients thought to suffer from non-classic 11 beta-hydroxylase deficiency. " 06/01/1996 - "In the following study the CYP11B1 genes from eight individuals with 11 beta-hydroxylase deficiency were screened for mutations using single strand conformation polymorphism (SSCP) analysis. " 07/05/2023 - "A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency." 12/01/2021 - "CYP11B1 variants (c.1201-1G>A, c.1200+1del, c.412C>T, c.1024C>T, c.1012dup, c.623G>A) were identified in all six subjects suspected for 11 beta-hydroxylase deficiency. " 05/01/2020 - "Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations."
3.	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 05/01/1982 - "2. In the present study similar parameters were determined in a family of four including two children with CAH due to 11 beta-hydroxylase deficiency (11-OHDS), and a family of twelve including three sibs (two females, one genotypically male) with CAH due to 17 alpha-hydroxylase deficiency (17-OHDS). " 06/01/1994 - "17 alpha-Hydroxylase/17,20-lyase deficiency is one of two hypertensive forms of congenital adrenal hyperplasia and is inherited as an autosomal recessive trait; although rare, it probably exists with twice the frequency of the 11 beta-hydroxylase deficiency. " 04/01/1990 - "The CPR in three patients with multiple pituitary deficiency ranged from 7 to 16 mumoles d-1 m-2, and the CPR in three patients with congenital adrenal hyperplasia (CAH) due to 11 beta-hydroxylase deficiency (11 beta OHD) and 17 alpha-hydroxylase deficiency (17 alpha OHD) from 0.1 to 2.11 mumoles d-1 m-2. " 03/01/2018 - "11-Beta-hydroxylase deficiency (11βOHD) and 17-hydroxylase/17,20-lyase deficiency (17OHD) are rare causes of CAH. " 01/01/1997 - "11 beta-Hydroxylase deficiency was diagnosed relatively frequently (13.5%) among our patients with congenital adrenal hyperplasia; one girl had 17 alpha-hydroxylase deficiency and one boy had 3 beta-hydroxy steroid dehydrogenase deficiency. "
4.	EnzymesIBA 09/01/1980 - "These findings are consistent with previous in vitro studies and studies in patients with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency, suggesting that a single enzyme system is responsible for both 11 beta- and 18-hydroxylation of DOC in the adrenal zona fasciculata. " 09/01/2009 - "These mutations abolish normal enzyme activity, leading to a severe phenotype of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency." 10/01/1991 - "The subjects were divided into 3 groups: those with androgen excess (A+) comprised a group of 13 patients with classical 21-hydroxylase deficiency and one with 11-beta-hydroxylase deficiency; a normal or reduced androgen (a+) group was represented by one patient with late-onset 21-hydroxylase deficiency and one with congenital adrenal hypoplasia; and a group with absent androgen (A-) consisted of 5 patients with a cholesterol side-chain cleaving-enzyme deficiency. " 05/01/1986 - "Nine patients (29%) had evidence of steroid biosynthetic enzyme deficiencies, either mild congenital adrenal hyperplasia or the heterozygote state; after ACTH, 4 of these patients had elevated 17-prog in the range of values in heterozygote carriers of 21-hydroxylase deficiency, 2 had elevated levels of 11-deoxycortisol compatible with 11 beta-hydroxylase deficiency, and 3 had elevated levels of 17-Preg and DHEA, suggestive of 3 beta-hydroxysteroid dehydrogenase deficiency. "
5.	Cortodoxone (11 Deoxycortisol)IBA 10/01/1989 - "Stimulated 11-deoxycortisol values [less than 400 ng/dL (11.6 nmol/L)] ruled out any cases of nonclassical 11 beta-hydroxylase deficiency. " 03/01/1986 - "Analysis of metabolites in urine is an additional specific marker to plasma 11-deoxycortisol measurement for the diagnosis of 11 beta-hydroxylase deficiency in early infancy." 01/01/1993 - "Kinetics and metabolism of 11-deoxycortisol in a patient with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency." 04/01/1991 - "to determine the 11-deoxycortisol (S) response and incidence of 11 beta-hydroxylase deficiency in hyperandrogenism. " 03/01/1980 - "It is suggested that the determination of 11-deoxycortisol in amniotic fluid be a prenatal diagnostic test for 11 beta-hydroxylase deficiency congenital adrenal hyperplasia."
6.	Hydrocortisone (Cortisol)FDA LinkGeneric 01/01/1985 - "The diagnosis of 11 beta-hydroxylase deficiency was finally established on the basis of elevated plasma eleven-deoxycortisol (compound S) (greater than 0.6 mumol/l) and confirmed by the normalisation of the blood pressure during hydrocortisone therapy. " 10/01/1997 - "Steroid 11 beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. " 12/01/1995 - "Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxy-cortisol to cortisol) is responsible for less than 5% of cases of classic congenital adrenal hyperplasia, but it is relatively frequent in Israel, among Jews of Moroccan origin. " 06/01/1995 - "(2) In 11 beta-hydroxylase deficiency, it was puzzling to find 18-hydroxylated compounds, and, in isolated hypoaldosteronism, normal cortisol, since 11 beta- and 18-hydroxylation were thought to be regulated together. " 06/01/1994 - "Steroid 11 beta-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. "
7.	AndrogensIBA 08/01/1969 - "Androgen metabolism in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency." 03/29/1986 - "Mild clinical signs of increased androgen production in children and adolescents (premature pubarche, advanced bone maturation, tall stature) and in women (hirsutism, primary or secondary amenorrhea, or oligomenorrhea) have proven in the last few years to be attributable to mild types of congenital adrenal hyperplasia due to 21- or 11 beta-hydroxylase deficiency in quite a large proportion of patients. " 01/01/2017 - "Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. " 01/01/1994 - "Excessive secretion of androgens and mineralocorticoids occurs in 11 beta-hydroxylase deficiency (the second most frequent form of congenital adrenal hyperplasia). " 08/01/1994 - "Mutations in the CYP11B1 gene cause steroid 11 beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia characterized by signs of androgen excess and by hypertension. "
8.	Adrenocorticotropic Hormone (ACTH)FDA Link 02/14/1998 - "11 beta-hydroxylase deficiency diagnosis was made when DCT response, its net increment and the DCT/CT ratio after ACTH were 2 SD above the normal mean: 7 women were detected. " 03/01/1980 - "Hormonal response to ACTH stimulation and HLA genotyping were determined in families of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia. " 11/01/1981 - "Other conditions with hypertension and depressed PRA include ACTH and DOC secreting tumors, primary hyperpituitarism, syndromes of 17-hydroxylase and 11-beta-hydroxylase deficiency. " 10/01/1996 - "The diagnosis of 11 beta-hydroxylase deficiency has been presumed when the serum 11-deoxycortisol response to ACTH stimulation exceeded three times the 95th percentile of controls. " 09/27/1990 - "The women with hirsutism were divided into four groups based on their individual responses to ACTH stimulation: patients with a possible 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency, those with a possible 21-hydroxylase deficiency, those with a possible 11 beta-hydroxylase deficiency, and those with no apparent defect in steroidogenesis. "
9.	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 08/01/1992 - "Seven patients had 21 hydroxylase (21-OH) deficiency while one had 11 beta hydroxylase deficiency. " 07/01/1983 - "Thus a single defect will mimic at one and the same time a 21-hydroxylase and a 11 beta-hydroxylase deficiency." 06/01/2022 - "Ovarian and paraovarian ARTs were detected during the pathological evaluation of gonadectomy materials in four patients (20%) (two with simple virilizing 21-hydroxylase and two with 11-beta-hydroxylase deficiency) with previously normal pelvic imaging. " 12/01/1997 - "The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome." 03/01/1990 - "A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region."
10.	MineralocorticoidsIBA 10/01/1984 - "Comparative studies in 14 untreated patients with 11 beta-hydroxylase deficiency, who had moderate to severe manifestations of mineralocorticoid excess, revealed DOC levels (38-1384 ng/dl) that were remarkably similar to those of patients with HA and PHA. " 07/01/1986 - "Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency." 01/01/1992 - "The assay proved useful (1) in monitoring for the recurrence of a mineralocorticoid-secreting tumor and (2) when adrenal production of DOC was not fully suppressed in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. " 02/01/1991 - "Mineralocorticoids in the mechanism of gynecomastia in adrenal hyperplasia caused by 11 beta-hydroxylase deficiency." 01/01/1994 - "Excessive secretion of androgens and mineralocorticoids occurs in 11 beta-hydroxylase deficiency (the second most frequent form of congenital adrenal hyperplasia). "

Therapies and Procedures

1.	Therapeutics 03/01/1982 - "Similar findings obtained in the patient with 11 beta-hydroxylase deficiency who was studied after 6 weeks without replacement therapy. " 01/01/1985 - "The diagnosis of 11 beta-hydroxylase deficiency was finally established on the basis of elevated plasma eleven-deoxycortisol (compound S) (greater than 0.6 mumol/l) and confirmed by the normalisation of the blood pressure during hydrocortisone therapy. " 02/01/1993 - "The present report describes the case of a patient suffering from congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency who developed an acute adrenal crisis, unprovoked by stress, following interruption of glucocorticoid replacement therapy. "
2.	Cardiopulmonary Resuscitation (CPR) 04/01/1990 - "The CPR in three patients with multiple pituitary deficiency ranged from 7 to 16 mumoles d-1 m-2, and the CPR in three patients with congenital adrenal hyperplasia (CAH) due to 11 beta-hydroxylase deficiency (11 beta OHD) and 17 alpha-hydroxylase deficiency (17 alpha OHD) from 0.1 to 2.11 mumoles d-1 m-2. "
3.	Castration 06/01/2022 - "Ovarian and paraovarian ARTs were detected during the pathological evaluation of gonadectomy materials in four patients (20%) (two with simple virilizing 21-hydroxylase and two with 11-beta-hydroxylase deficiency) with previously normal pelvic imaging. "
4.	Adrenalectomy 08/01/1996 - "11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy."