Adrenal hyperplasia 2

Also Known As:

3 Beta-Hsd Deficiency; 3 alpha beta-HSD deficiency; 3 alpha beta-hydroxysteroid dehydrogenase deficiency; 3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of; 3 beta-ol Dehydrogenase Deficiency; 3-Beta Hydroxysteroid Dehydrogenase Deficiency; 3b-Hydroxysteroid Dehydrogenase Deficiency; 3beta-Hsd Deficiency; 3beta-Hsd Deficiency Congenital Adrenal Hyperplasia; 3beta-Hydroxysteroid Dehydrogenase Deficiency; HSDB3; Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency

Networked: 66 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
2.	Adenoma (Adenomas)
3.	Hirsutism
4.	Adrenal Insufficiency (Adrenal Gland Hypofunction)
5.	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Experts

1.	Heubi, James E: 2 articles (10/2009 - 04/2003)
2.	Jacquemin, Emmanuel: 2 articles (10/2009 - 04/2003)
3.	Setchell, Kenneth D R: 2 articles (10/2009 - 04/2003)
4.	Simard, Jacques: 2 articles (06/2005 - 08/2002)
5.	Morel, Yves: 2 articles (04/2005 - 08/2002)
6.	Marui, S: 2 articles (03/2005 - 01/2000)
7.	Chang, Ying Tai: 2 articles (06/2002 - 06/2002)
8.	David, Raphael: 2 articles (06/2002 - 06/2002)
9.	Mason, J Ian: 2 articles (06/2002 - 06/2002)
10.	Pang, Songya: 2 articles (06/2002 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Adrenal hyperplasia 2:

1.	EnzymesIBA 01/01/1997 - "Distinct approaches have been used for a better understanding of the structure-function relationships of these 3 beta-HSD enzymes: i) affinity radiolabeling studies of the human type I 3 beta-HSD; ii) identification and the functional consequences of the human type-II 3 beta-HSD mutations detected in patients with 3 beta-HSD deficiency. " 03/01/2018 - "Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit." 02/01/1993 - "We propose that increased activity of the enzyme P450c17 alpha in the adrenal cortex is responsible for most of what is often termed late-onset 3 beta-HSD deficiency." 11/01/1996 - "During pregnancy, maternal problems are confined to women with 21-hydroxylase deficiency, 11b-hydroxylase deficiency, and 3b-hydroxysteroid dehydrogenase deficiency because other adrenal enzyme deficiencies are incompatible with fertility. " 12/01/1994 - "The present study strongly suggests that unlike the salt-losing and nonsalt-losing forms of classical 3 beta HSD deficiency, NC3 beta HSDD is not due to a mutant type II 3 beta HSD enzyme. "
2.	3-Hydroxysteroid Dehydrogenases (3 beta Hydroxysteroid Dehydrogenase)IBA 12/01/1994 - "No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency." 03/01/1994 - "Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency." 01/01/1989 - "Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1." 11/01/1996 - "Classic 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) deficiency congenital adrenal hyperplasia (CAH) results from a mutation in the type II 3 beta HSD gene encoding adrenal and gonadal 3 beta HSD. " 10/01/1994 - "We report mutations of the type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene in two siblings, male and female, with congenital adrenal hyperplasia caused by classical nonsalt-losing 3 beta HSD deficiency. "
3.	Proteins (Proteins, Gene)FDA Link 11/01/2000 - "Recent studies have highlighted the fact that various mutations appear to have a drastic effect upon the stability of the protein, therefore providing molecular evidence of a new mechanism involved in classical 3beta-HSD deficiency. " 08/01/2002 - "Moreover, various mutations appear to have a drastic effect upon stability of the protein, therefore providing molecular evidence of a new mechanism involved in classical 3beta-HSD deficiency. " 01/01/2000 - "Most previous studies have failed to demonstrate any mutations in the type II 3beta hydroxysteroid dehydrogenase (HSD3B2) gene in patients satisfying the hormonal criteria of nonclassic 3beta-hydroxysteroid dehydrogenase deficiency, suggesting that a mutant 3beta-hydroxysteroid dehydrogenase protein is not the cause of this disorder. " 01/01/1996 - "Both codon 273 and 318 mutations yielding frameshift and premature stop codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3 beta-HSD protein, thereby causing salt-wasting 3 beta-HSD deficiency in the patient. "
4.	SaltsIBA 02/01/1994 - "The sequence of the type II 3 beta-HSD gene was determined by direct sequencing of asymmetric PCR products in three male infants suffering from a severe salt-losing form of 3 beta-HSD deficiency and belonging to three families originating from Afghanistan and Pakistan. " 11/01/1993 - "These data indicate a homozygous combined missense/frameshift mutation in exon IV of the type II 3 beta-HSD gene resulting in severe salt-wasting adrenal and gonadal 3 beta-HSD deficiency in the patient." 05/01/1993 - "Moreover, the present findings provide a molecular explanation for the enzymatic heterogeneity responsible for the severe salt-losing form to the clinically inapparent salt-wasting form of classical 3 beta-HSD deficiency.(ABSTRACT TRUNCATED AT 400 WORDS)" 05/01/1993 - "The structures of the highly homologous type I and II 3 beta-HSD genes have been analyzed in three male pseudohermaphrodite 3 beta-HSD deficient patients from unrelated families in order to elucidate the molecular basis of classical 3 beta-HSD deficiency from patients exhibiting various degrees of severity of salt losing. " 10/01/1988 - "We conclude that this patient had a mild and non-salt losing 3 beta-HSD deficiency in the zona reticularis with normal fasciculata and high glomerulosa function."
5.	Adrenocorticotropic Hormone (ACTH)FDA Link 01/01/1997 - "In this study, type II 3 beta-HSD gene from 4 girls who were diagnosed as NC3 beta-HSD deficient, base on the adrenal steroidogenic responses to ACTH, was analyzed to determine whether NC3 beta-HSD deficiency was an allelic variant of classical 3 beta-HSD deficiency by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). " 01/01/1997 - "Eight (13.8%) hirsute women had elevated basal DHEAS and ACTH-stimulated DHEAS as well as delta 5-17P responses indicative of 3 beta-HSD deficiency. " 11/01/1996 - "The hormonal criterion for ACTH-stimulated delta 5-17P levels in patients with mild variant 3 beta HSD deficiency, therefore, is predicted to be higher than 10 SD above the normal mean value." 11/01/1996 - "The ACTH-stimulated delta 5-17P levels and delta 5-17P/F ratios in the PP children without type II 3 beta HSD gene mutation were exceedingly lower than the respective reported hormonal data for children with 3 beta HSD deficiency CAH with proven type II 3 beta HSD gene mutation. " 01/01/1995 - "Post-ACTH 17-OHPreg/17-OHP ratios in serum discriminated patients with and without 3 beta-HSD deficiency using a cutoff value of 13 instead of mean + 2 SD for age-related control values (6.7 and 11.6 for girls with Tanner stage II-III and IV-V, respectively). "
6.	SteroidsIBA 03/01/2001 - "The delta-5 steroid abnormality for the nonclassic 3 beta-HSD deficiency CAH, proven by genotype study, is substantially greater than the hormonal criteria for the disorder published before the advent of molecular information on the gene encoding adrenals and gonads in humans. " 02/01/2001 - "This steroid is indeed the most relevant steroid for the diagnosis of 3beta-hydroxysteroid dehydrogenase deficiency. " 02/01/1998 - "The hormonal criteria for bona fide mild variants of 3beta-HSD deficiency and etiology of mild Delta5 steroid abnormality in the patients remain to be investigated." 02/01/1998 - "This indicates that the mild Delta5 steroid abnormality is not due to a variant of 3beta-HSD deficiency CAH. " 02/01/1994 - "Four homozygotes are described, all of which showed elevated levels of delta 5 steroids consistent with 3 beta-HSD deficiency. "
7.	3 beta-hydroxysteroid dehydrogenase type IIIBA 04/01/2008 - "Three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3beta-HSD deficiency. " 06/01/2005 - "Finally, the elucidation of the molecular basis of 3beta-HSD deficiency has highlighted the fact that mutations in the HSD3B2 gene can result in a wide spectrum of molecular repercussions, which are associated with the different phenotypic manifestations of classical 3beta-HSD deficiency and also provide valuable information concerning the structure-function relationships of the 3beta-HSD superfamily. " 08/01/2002 - "Thus, the elucidation of the molecular basis of 3beta-HSD deficiency has highlighted the fact that mutations in the HSD3B2 gene can result in a wide spectrum of molecular repercussions, which are associated with the different phenotypic manifestations of classical 3beta-HSD deficiency and also provide valuable information concerning the structure-function relationships of the 3beta-HSD superfamily." 08/01/2002 - "To date a total of 34 mutations (including 5 frameshift, 4 nonsense, 1 in-frame deletion, 1 splicing, and 23 missense mutations) have been identified in the HSD3B2 gene in 56 individuals from 44 families suffering from classical 3beta-HSD deficiency. " 01/01/2000 - "We screened the HSD3B2 gene for mutations in girls with premature pubarche and a hormonal diagnosis of 3beta-hydroxysteroid dehydrogenase deficiency. "
8.	Oxidoreductases (Dehydrogenase)IBA 06/01/2002 - "We investigated two novel point mutations in the human type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing a mild and a severe form of 3beta-HSD deficiency congenital adrenal hyperplasia. " 06/29/2021 - "We found that steroidogenesis-related genes (hydroxysteroid 17-beta dehydrogenase 3 (17β-hsdb3), hydroxysteroid 17-beta dehydrogenase 7 (17β-hsdb7), hydroxysteroid 17-beta dehydrogenase 12 (17β-hsdb12), and cytochrome P450 family 19 subfamily a (cyp19a1b)) were significantly downregulated in miR-430 knockdown groups. " 06/01/2002 - "A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia." 01/01/2000 - "Most previous studies have failed to demonstrate any mutations in the type II 3beta hydroxysteroid dehydrogenase (HSD3B2) gene in patients satisfying the hormonal criteria of nonclassic 3beta-hydroxysteroid dehydrogenase deficiency, suggesting that a mutant 3beta-hydroxysteroid dehydrogenase protein is not the cause of this disorder. "
9.	Hydroxysteroid DehydrogenasesIBA 03/01/1994 - "Three beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta HSD) deficiency is a form of congenital adrenal hyperplasia characterized by severe impairment of steroid biosynthesis in the adrenals and gonads. " 01/01/2000 - "Most previous studies have failed to demonstrate any mutations in the type II 3beta hydroxysteroid dehydrogenase (HSD3B2) gene in patients satisfying the hormonal criteria of nonclassic 3beta-hydroxysteroid dehydrogenase deficiency, suggesting that a mutant 3beta-hydroxysteroid dehydrogenase protein is not the cause of this disorder. " 01/01/1989 - "Three-beta-hydroxysteroid dehydrogenase (HSDB3) is the enzyme which catalyses the oxidative conversion of delta 5-3 beta-hydroxy steroids to the delta 4-3-keto configuration and is therefore involved in the biosynthesis of all classes of hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, and estrogens. "
10.	GlucocorticoidsIBA 01/01/1996 - "Thus, although the family history suggested possible 3 beta-HSD deficiency disorder, suppressed adrenal function caused by excess glucocorticoid therapy in this child at 7 yr of age did not allow hormonal diagnosis. " 11/01/1993 - "We report pubertal maturation and dynamic studies of gonadotropin and gonadal hormone secretion in long term glucocorticoid-treated siblings with nonsalt-wasting classic adrenal and gonadal 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) deficiency. " 01/01/1989 - "Three-beta-hydroxysteroid dehydrogenase (HSDB3) is the enzyme which catalyses the oxidative conversion of delta 5-3 beta-hydroxy steroids to the delta 4-3-keto configuration and is therefore involved in the biosynthesis of all classes of hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, and estrogens. "

Therapies and Procedures

Therapeutics

10/01/2009 - "Liver biopsies performed in 14 patients after at least 5 years of CA therapy showed marked improvement, especially in patients with the 3beta-HSD deficiency. "
01/01/1996 - "Thus, although the family history suggested possible 3 beta-HSD deficiency disorder, suppressed adrenal function caused by excess glucocorticoid therapy in this child at 7 yr of age did not allow hormonal diagnosis. "
10/01/1991 - "Long-term infertility in late-onset 3 beta-ol-dehydrogenase deficiency: successful pregnancy following dexamethasone and in vitro fertilization (IVF) therapy."
09/01/1996 - "Although none of the subjects with PCOS proved to have mild 3 beta-HSD deficiency, the majority of them (58%) met the criteria for 17,20 lyase hyperactivity before and after GnRH-a therapy. "