Turner syndrome

Also called 45,X or Monosomy X

Turner syndrome is a genetic condition that only affects girls and women. It happens when one of the 2 X chromosomes is missing or partly missing. It commonly causes short height and the ovaries not working properly, which can mean puberty does not start and infertility. It can also affect the heart, kidneys and hearing.

Last updated Nov 9, 2026

What it is

Growth hormone treatment in childhood can increase adult height. Oestrogen treatment is used to start puberty and protect the bones.

Regular checks of the heart, kidneys, hearing, thyroid and blood pressure are recommended throughout life.

Common signs

  • Short height
  • Puberty not starting or periods stopping early
  • Swollen hands and feet at birth
  • A wide or webbed neck
  • Heart or kidney problems
  • Hearing loss

How it is usually diagnosed

  • A chromosome blood test (karyotype)
  • Sometimes found during pregnancy tests

Records worth keeping

Keeping these together makes each appointment easier, especially when you see a new doctor:

  • Karyotype results
  • Growth charts
  • Endocrinology and cardiology letters
  • Heart and kidney scan reports

Questions to ask your doctor

  • Would growth hormone help my child?
  • What checks are needed and how often?
  • What are the options for having children in future?

When to get help right away

Call 112 or go to the nearest emergency department if you have:

  • Sudden chest, back or tummy pain, especially in pregnancy: call 112

This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.

Sources