Disease Atlas / Disease detail

Turner syndrome

An atlas of X-chromosome loss or alteration, short stature, ovarian insufficiency, and lifelong cardiovascular and endocrine care.

Turner syndrome · 45,X syndrome · monosomy X

MONDO:0019499Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · d60fa547c0a8

Disease class: Turner syndrome results when one X chromosome is absent or structurally altered.
Core mechanism: About half have 45,X monosomy.
Genes or cause: Some have mosaicism or partial deletion.
Typical features: Short stature is the most common feature.
Variability: Ovarian insufficiency affects puberty and fertility.
Diagnosis: Cardiac, aortic, and kidney abnormalities can occur.
Management: Karyotype testing confirms diagnosis.
Treatment and research: Prenatal suspicion is confirmed after birth.
Reading evidence: Growth hormone can increase adult height in selected patients.
Key caution: Estrogen supports pubertal induction and bone health.

A structured guide for understanding the disease and preparing for clinical conversations.

Turner syndrome results when one X chromosome is absent or structurally altered.

Short stature is the most common feature.

About half have 45,X monosomy.

Some have mosaicism or partial deletion.

Ovarian insufficiency affects puberty and fertility.

Cardiac, aortic, and kidney abnormalities can occur.

Karyotype testing confirms diagnosis.

Prenatal suspicion is confirmed after birth.

Pregnancy is planned after cardiovascular risk assessment.

Karyotype, cardiovascular, endocrine, hearing, and reproductive plans require review.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.