Testosterone 17-beta-dehydrogenase deficiency

disorder

SNOMED 50658006CUI C0268296

Overview

Testosterone 17-beta-dehydrogenase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Ambiguous external genitalia

Very frequent (80-99%)HP:0000062

Cryptorchidism

Very frequent (80-99%)HP:0000028

Female external genitalia in individual with 46,XY karyotype

Very frequent (80-99%)HP:0008730

Hypospadias

Very frequent (80-99%)HP:0000047

Infertility

Very frequent (80-99%)HP:0000789

Male pseudohermaphroditism

Very frequent (80-99%)HP:0000037

Prominent clitoris

Very frequent (80-99%)HP:0008665

Increased circulating androstenedione concentration

Frequent (30-79%)HP:0025380

Inguinal hernia

Frequent (30-79%)HP:0000023

Urogenital sinus anomaly

Frequent (30-79%)HP:0100779

Gynaecomastia

Occasional (5-29%)HP:0000771

Hypoplasia of penis

Occasional (5-29%)HP:0008736

Scrotal cleft

Occasional (5-29%)HP:0000048

Hypothyroidism

HP:0000821

Laboratory abnormality

HP:0001939

Related Conditions

Disorder of steroid metabolism(parent)

Enzymopathy(parent)

Congenital adrenal hyperplasia(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 50658006
UMLS CUI: C0268296
Fully Specified Name: Testosterone 17-beta-dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.