5α-reductase deficiency

{
  "id": "MLC-T-CHM-000022",
  "term": "5α-reductase deficiency",
  "field": "Chemistry",
  "definition": "A genetic disorder characterized by the inability to convert testosterone to dihydrotestosterone (DHT) due to a mutation in the gene encoding 5α-reductase type 2. This condition primarily affects individuals with a 46,XY karyotype, leading to ambiguous genitalia at birth. The inheritance pattern is autosomal recessive.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "5α-reductase",
    "autosome",
    "recessive"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 799 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/5a-reductase-deficiency/"
}