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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
Features include always present findings: Increased circulating dehydroepiandrosterone-sulfate concentration; and very common findings: Congenital adrenal hyperplasia. 49 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 6 | Increased circulating 17 hydroxypregnenolone concentration, Elevated circulating 17-hydroxyprogesterone concentration, Increased circulating dehydroepiandrosterone-sulfate concentration |
Hormones | 5 | Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplasia, Adrenal insufficiency |
Pregnancy and birth | 3 | Congenital adrenal hyperplasia, Neonatal hypoglycemia, Neonatal asphyxia |
Kidneys and urinary system | 1 | Renal salt wasting |
Muscles | 1 | Renal salt wasting |
Skin | 1 | Hyperpigmentation of the skin |
Digestive system | 1 | Vomiting |
Brain and nerves | 1 | Global developmental delay |
Growth and development | 1 | Failure to thrive |
HSD3B2 encodes hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (372 aa). 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. Highest expression in Adrenal Gland (1,702 TPM) and Small Intestine Terminal Ileum (7.9 TPM).
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is associated with mutations in the HSD3B2 gene on chromosome 1.
The HSD3B2 protein participates in Pregn-5-ene-3,20-dione-17-ol isomerizes to 17-hydroxyprogesterone, Pregnenolone is dehydrogenated to form pregn-5-ene-3,20-dione, and 17-Hydroxypregnenolone is dehydrogenated to form pregn-5-ene-3,20-dione-17-ol pathways.
HSD3B2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 13.1.
Genetic testing for HSD3B2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 25 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.
7 publications have been identified in PubMed for congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).
Anik M (2026). [PMID: 41111433](https://pubmed.ncbi.nlm.nih.gov/41111433/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
İsakoca M (2025). [PMID: 39713884](https://pubmed.ncbi.nlm.nih.gov/39713884/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Gawlik Z (2025). [PMID: 41079182](https://pubmed.ncbi.nlm.nih.gov/41079182/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Yazawa T (2024). [PMID: 39415787](https://pubmed.ncbi.nlm.nih.gov/39415787/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]
Bilyalova A (2024). [PMID: 38898483](https://pubmed.ncbi.nlm.nih.gov/38898483/). *Lab Anim Res*. [Review / Meta-Analysis]
Ertorer ME (2024). [PMID: 38587785](https://pubmed.ncbi.nlm.nih.gov/38587785/). *Endocrine*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center