HSD11B2 encodes hydroxysteroid 11-beta dehydrogenase 2 (405 aa). Catalyzes the conversion of biologically active 11beta-hydroxyglucocorticoids (11beta-hydroxysteroid) such as cortisol, to inactive 11-ketoglucocorticoids (11-oxosteroid) such as cortisone, in the presence of NAD(+). Highest expression in Kidney Medulla (286.7 TPM) and Kidney Cortex (284.1 TPM).

Apparent mineralocorticoid excess is caused by mutations in the HSD11B2 gene on chromosome 16.

The HSD11B2 protein participates in HSD11B2 dehydrogenates PREDL to PREDN and HSD11B1 hydrogenates PREDN to PREDL in hepatic cell pathways.

HSD11B2 is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 13.1.

Genetic testing for HSD11B2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for apparent mineralocorticoid excess has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

21 publications have been identified in PubMed for apparent mineralocorticoid excess. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

• Nalluri BT (2026). [PMID: 42064719](https://pubmed.ncbi.nlm.nih.gov/42064719/). *JCEM Case Rep*. [Case Report / Case Series]

• Carvajal CA (2026). [PMID: 41224990](https://pubmed.ncbi.nlm.nih.gov/41224990/). *Nature reviews. Endocrinology*. [Review / Meta-Analysis]

• Mulatero P (2026). [PMID: 41638800](https://pubmed.ncbi.nlm.nih.gov/41638800/). *Vitamins and hormones*. [Review / Meta-Analysis]

• Xie LR (2026). [PMID: 42103657](https://pubmed.ncbi.nlm.nih.gov/42103657/). *Zhonghua Nei Ke Za Zhi*. [Case Report / Case Series]

• Roy A (2026). [PMID: 41489919](https://pubmed.ncbi.nlm.nih.gov/41489919/). *Endocrinology, diabetes &amp; metabolism case reports*. [Case Report / Case Series]

• Ott M (2026). [PMID: 40238628](https://pubmed.ncbi.nlm.nih.gov/40238628/). *Clinical chemistry and laboratory medicine*. [Diagnostic / Biomarker]

• Thakkar S (2026). [PMID: 41608146](https://pubmed.ncbi.nlm.nih.gov/41608146/). *World journal of clinical cases*. [Case Report / Case Series]

• Wetche JL (2025). [PMID: 40467035](https://pubmed.ncbi.nlm.nih.gov/40467035/). *The Journal of nutrition*. [Case Report / Case Series]

• Vallabhaneni P (2025). [PMID: 40720003](https://pubmed.ncbi.nlm.nih.gov/40720003/). *CEN case reports*. [Case Report / Case Series]

• Alsaadoun SA (2025). [PMID: 40487050](https://pubmed.ncbi.nlm.nih.gov/40487050/). *International medical case reports journal*. [Case Report / Case Series]