congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

MONDO:0008727Mondo

Findings

No curated finding names congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0008727), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Congenital onset

Features

45 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Elevated circulating 17-hydroxyprogesterone concentrationHPOHP:0031213
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Increased circulating dehydroepiandrosterone-sulfate concentrationHPOHP:0034589
- 3 of 3 reported patients
Congenital adrenal hyperplasiaHPOHP:0008258
- Very frequent (80% to 99% of cases)
HyperkalemiaHPOHP:0002153
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
HyponatremiaHPOHP:0002902
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

HSD3B2HGNC:5218
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: congenital adrenal hyperplasia
reproductive system disorder

Other names

2 names

Resolves to: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Also called: 3-beta HSD deficiencyCAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Show the remaining 33

Decreased circulating cortisol levelHPOHP:0008163
- Frequent (30% to 79% of cases)
Decreased fertility in malesHPOHP:0012041
- Frequent (30% to 79% of cases)
Decreased serum testosterone concentrationHPOHP:0040171
- Frequent (30% to 79% of cases)
DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
GynecomastiaHPOHP:0000771
- Frequent (30% to 79% of cases)
Hyperpigmentation of the skinHPOHP:0000953
- Frequent (30% to 79% of cases)
HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
HypotensionHPOHP:0002615
- Frequent (30% to 79% of cases)
Increased circulating androstenedione concentrationHPOHP:0025380
- Frequent (30% to 79% of cases)
Increased circulating renin concentrationHPOHP:0000848
- Frequent (30% to 79% of cases)
Increased serum testosterone levelHPOHP:0030088
- Frequent (30% to 79% of cases)
Neonatal hypoglycemiaHPOHP:0001998
- Frequent (30% to 79% of cases)
Renal salt wastingHPOHP:0000127
- Frequent (30% to 79% of cases)
VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
CryptorchidismHPOHP:0000028
- 2 of 4 reported patients
- Occasional (5% to 29% of cases)
Increased circulating 17 hydroxypregnenolone concentrationHPOHP:0033809
- 3 of 6 reported patients
Abnormal labia majora morphologyHPOHP:0012881
- Occasional (5% to 29% of cases)
AzoospermiaHPOHP:0000027
- Occasional (5% to 29% of cases)
Decreased testicular sizeHPOHP:0008734
- Occasional (5% to 29% of cases)
Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Female external genitalia in individual with 46,XY karyotypeHPOHP:0008730
- Occasional (5% to 29% of cases)
Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
HirsutismHPOHP:0001007
- Occasional (5% to 29% of cases)
Male pseudohermaphroditismHPOHP:0000037
- Occasional (5% to 29% of cases)
Neonatal asphyxiaHPOHP:0012768
- Occasional (5% to 29% of cases)
Penoscrotal hypospadiasHPOHP:0000808
- 1 of 4 reported patients
- Occasional (5% to 29% of cases)
Premature adrenarcheHPOHP:0012412
- Occasional (5% to 29% of cases)
Adrenal insufficiencyHPOHP:0000846
- 1 of 4 reported patients
Bifid scrotumHPOHP:0000048
- 1 of 4 reported patients
MicropenisHPOHP:0000054
- 1 of 4 reported patients
MicrophallusHPOHP:0030260
- 1 of 4 reported patients
Perineal hypospadiasHPOHP:0000051
- 1 of 4 reported patients
Scrotal hypospadiasHPOHP:0012853
- 1 of 4 reported patients