3 beta-Hydroxysteroid dehydrogenase deficiency

disorder

SNOMED 54470008CUI C0342471

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Increased circulating dehydroepiandrosterone-sulfate concentration

Always present (100%)HP:0034589

Congenital adrenal hyperplasia

Very frequent (80-99%)HP:0008258

Abnormal serum dehydroepiandrosterone level

Frequent (30-79%)HP:0500022

Adrenocorticotropic hormone excess

Frequent (30-79%)HP:0011749

Ambiguous genitalia due to virilization

Frequent (30-79%)HP:0000061

Ambiguous genitalia in males

Frequent (30-79%)HP:0000033

Decreased aldosterone production

Frequent (30-79%)HP:0004319

Decreased fertility in males

Frequent (30-79%)HP:0012041

Decreased testosterone

Frequent (30-79%)HP:0040171

Dehydration

Frequent (30-79%)HP:0001944

Elevated circulating 17-OHP

Frequent (30-79%)HP:0031213

Gynaecomastia

Frequent (30-79%)HP:0000771

Hyperkalemia

Frequent (30-79%)HP:0002153

Hypocortisolism

Frequent (30-79%)HP:0008163

Hyponatremia

Frequent (30-79%)HP:0002902

Hypospadias

Frequent (30-79%)HP:0000047

Hypotension

Frequent (30-79%)HP:0002615

Impaired cortisol response to corticotropin releasing hormone stimulation test

Frequent (30-79%)HP:0031078

Increased circulating 17 hydroxypregnenolone concentration

Frequent (30-79%)HP:0033809

Increased circulating androstenedione concentration

Frequent (30-79%)HP:0025380

Increased plasma renin

Frequent (30-79%)HP:0000848

Increased testosterone

Frequent (30-79%)HP:0030088

Melanoderma

Frequent (30-79%)HP:0000953

Neonatal hypoglycemia

Frequent (30-79%)HP:0001998

Prominent clitoris

Frequent (30-79%)HP:0008665

Salt wasting

Frequent (30-79%)HP:0000127

Vomiting

Frequent (30-79%)HP:0002013

Abnormality of the labia majora

Occasional (5-29%)HP:0012881

Azoospermia

Occasional (5-29%)HP:0000027

Cognitive delay

Occasional (5-29%)HP:0001263

Related Conditions

Congenital adrenal hyperplasia(parent)

Enzymopathy(parent)

Inborn error of metabolism(parent)

Disorder of steroid metabolism(parent)

Quick Facts

SNOMED CT: 54470008
UMLS CUI: C0342471
Fully Specified Name: 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.