Adrenal-Restrictive HSD3B1 Genotype

**Semantic type:** Laboratory or Test Result

**Definition:** A genetic finding indicating that a subject exhibits homozygous expression of adenine at position 1100 of the coding sequence of the HSD3B1 gene. This sequence encodes asparagine at amino acid residue 367 of the 3 beta-hydroxysteroid dehydrogenase/Delta 5->4-isomerase type 1 protein (steroid Delta-isomerase) and is associated with increased proteasomal degradation of steroid Delta-isomerase and a decreased rate of conversion of dehydroepiandrosterone (DHEA) to androstenedione. Expression of this form of steroid Delta-isomerase may both affect the progression of prostate and other hormone-responsive cancers and have an impact on therapeutic efficacy.

**Synonyms:** - Adrenal Restrictive HSD3B1(1245A) - Adrenal Restrictive HSD3B1(1245A) Positive - HSD3B1 (1245A) Positive - HSD3B1 (1245A/A) - HSD3B1 (1245C) Negative - HSD3B1 1245A Positive - HSD3B1 1245C Negative - HSD3B1 1245C Negative - HSD3B1(1245A) Positive - HSD3B1(1245C) Negative - Homozygous HSD3B1 NM_000862.2:c.1100C>A