17 beta-hydroxysteroid dehydrogenase type 3 deficiency

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In a boy of Polish descent with cortisone reductase deficiency (CORTRD1; 604931 ), previously studied by Draper et al. (2003) , Lavery et al. (2008) identified homozygosity for a 948C-G transversion in exon 4 of the H6PD gene, resulting in a tyr316-to-ter (Y316X) substitution, predicted to truncate the protein by 575 amino acids. The mutation was not found in 120 control chromosomes, and functional analysis of the mutation in HEK293 cells demonstrated total loss of function. No mutations or sequence variants were detected in the HSD11B1 gene ( 600713 ).

A 2016 case before the Family Court of Australia [18] was widely reported in national, [19] [20] [21] and international media. [22] The judge ruled that parents were able to authorize the sterilization of their 5-year old child. The child had previously been subjected to intersex medical interventions including a clitorectomy and labiaplasty , without requiring Court oversight - these were described by the judge as surgeries that "enhanced the appearance of her female genitalia". [18] Organisation Intersex International Australia found this "disturbing", and stated that the case was reliant on gender stereotyping and failed to take account of data on cancer risks. [23]

HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1) is a Protein Coding gene. Diseases associated with HSD11B1 include Cortisone Reductase Deficiency 2 and Hyperandrogenism Due To Cortisone Reductase Deficiency . Among its related pathways are Metabolism and Steroid hormone biosynthesis . Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 11-beta-hydroxysteroid dehydrogenase (NADP+) activity . An important paralog of this gene is HSD11B1L .

The biological activity of steroid hormones is regulated at the pre-receptor level by several enzymes including 17 beta-hydroxysteroid dehydrogenases (17 beta -HSD). The latter are present in many microorganisms, invertebrates and vertebrates. Dysfunctions in human 17 beta-hydroxysteroid dehydrogenases result in disorders of biology of reproduction and neuronal diseases, the enzymes are also involved in the pathogenesis of various cancers. 17 beta-hydroxysteroid dehydrogenases reveal a remarkable multifunctionality being able to modulate concentrations not only of steroids but as well of fatty and bile acids. Current knowledge on genetics, biochemistry and medical implications is presented in this review.

17 beta-hydroxysteroid dehydrogenase type 3 deficiency

17 beta-hydroxysteroid dehydrogenase type 3 deficiency

HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1) is a Protein Coding gene. Diseases associated with HSD11B1 include Cortisone Reductase Deficiency 2 and Hyperandrogenism Due To Cortisone Reductase Deficiency . Among its related pathways are Metabolism and Steroid hormone biosynthesis . Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 11-beta-hydroxysteroid dehydrogenase (NADP+) activity . An important paralog of this gene is HSD11B1L .

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