Partial androgen insensitivity syndrome

disorder

SNOMED 122811000119101CUI C0268301

Overview

Partial androgen insensitivity syndrome 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.

Cryptorchidism

Always present (100%)HP:0000028

Aplasia of the ovary

Very frequent (80-99%)HP:0010463

Elevated circulating luteinizing hormone level

Very frequent (80-99%)HP:0011969

High serum testosterone level

Very frequent (80-99%)HP:0030088

Increased circulating antimullerian hormone concentration

Very frequent (80-99%)HP:0031102

Male infertility

Very frequent (80-99%)HP:0003251

Male sexual dysfunction

Very frequent (80-99%)HP:0040307

uterus absent

Very frequent (80-99%)HP:0000151

Abnormal circulating estrogen level

Frequent (30-79%)HP:0025132

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Cryptorchidism, bilateral

Frequent (30-79%)HP:0008689

Gynaecomastia

Frequent (30-79%)HP:0000771

Hypospadias

Frequent (30-79%)HP:0000047

Abnormality of secondary sexual hair

Occasional (5-29%)HP:0009888

Azoospermia

Occasional (5-29%)HP:0000027

Blind-ended vagina

Occasional (5-29%)HP:0040314

Fused labia majora

Occasional (5-29%)HP:0025486

Germ cell neoplasia

Occasional (5-29%)HP:0100728

High pitched voice

Occasional (5-29%)HP:0001620

Increased estradiol level

Occasional (5-29%)HP:0025134

Insulin insensitivity

Occasional (5-29%)HP:0008189

Perineal hypospadias

Occasional (5-29%)HP:0000051

Primary amenorrhea

Occasional (5-29%)HP:0000786

Prominent clitoris

Occasional (5-29%)HP:0008665

Scrotal cleft

Occasional (5-29%)HP:0000048

Short penis

Occasional (5-29%)HP:0000054

Urogenital sinus anomaly

Occasional (5-29%)HP:0100779

Abnormality of the rib cage

HP:0001547

Absent ductus deferens

HP:0012873

Decreased activity of gonads

HP:0000135

Related Conditions

MAIS - minimal androgen insensitivity syndrome(child)

Androgen resistance syndrome(parent)

Male pseudohermaphroditism(parent)

Quick Facts

SNOMED CT: 122811000119101
UMLS CUI: C0268301
Fully Specified Name: Partial androgen insensitivity syndrome (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.