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Trait

Elevated circulating 17-hydroxyprogesterone concentration

An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.

HPO HP:0031213

Summary

Also called
Elevated circulating 17-hydroxyprogesterone, Elevated circulating 17-OHP
Body system
Abnormality of the endocrine system

3 genes linked to Elevated circulating 17-hydroxyprogesterone concentration

Changes in these genes cause rare conditions in which Elevated circulating 17-hydroxyprogesterone concentration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2AlwaysIn 2 conditions
PORcytochrome p450 oxidoreductaseAlwaysIn 2 conditions
CYP11B1cytochrome P450 family 11 subfamily B member 1Very often (80–99%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Increased circulating progesterone

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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