Isolated 17,20-lyase deficiency is a rare autosomal recessive genetic endocrine disorder characterized by impaired production of the sex steroid hormones androgen and estrogen. It results from mutations in the CYP17A1 gene or in its redox partner genes POR or CYB5A, which disrupt the enzyme's 17,20-lyase function while leaving its separate 17-alpha-hydroxylase activity intact. The disorder primarily affects the endocrine system, specifically the hypothalamic-pituitary-gonadal axis and the steroid hormone biosynthesis pathway. Unlike combined 17-alpha-hydroxylase/17,20-lyase deficiency, this isolated form does not affect glucocorticoid or mineralocorticoid production, and so it does not cause adrenal hyperplasia or hypertension, distinguishing it from that related condition.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Isolated 17,20-lyase deficiency (Wikipedia)
lead sentence 1
Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which is characterized by a complete or partial loss of 17,20-lyase activity and, in turn, impaired production of the androgen and estrogen sex steroids.
Lead: disease category
Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which is characterized by a complete or partial loss of 17,20-lyase activity and, in turn, impaired production of the androgen and estrogen sex steroids.
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