Symptoms of Turner syndrome

Almost all girls with Turner syndrome will grow up to be shorter than average, with underdeveloped ovaries.

Girls with Turner syndrome will also have distinctive features and associated health conditions, some of which may be apparent from birth.

They may be born with swollen hands and feet, caused by a build-up of excess fluid in the surrounding tissues. This is known as Lymphoedema , and it usually clears soon after birth.

Other features that may have developed in the womb include:

• thick neck tissue
• swelling of the neck (cystic hygroma)
• being a small baby
• heart conditions
• kidney abnormalities

Growth

Babies with Turner syndrome may grow at a normal rate until three years of age. After this age, their growth slows down.

At puberty (usually at age 8 to 14), a girl with Turner syndrome will not have the normal growth spurt, even with female oestrogen hormone replacement (HRT).

Girls with Turner syndrome are typically short in relation to the height of their parents. On average, adult women with untreated Turner syndrome are 20cm (8 inches) shorter than adult women without the syndrome. Treatment with additional high-dose growth hormone reduces this difference by about 5cm (about 2 inches) on average.

During puberty, a girl's ovaries usually begin to produce the sex hormones oestrogen and, once fully mature, progesterone. These trigger periods to begin.

Around 90% of girls with Turner syndrome will not produce enough of these sex hormones, which means:

• they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT)
• they may begin sexual development but not complete it
• they may not start their monthly periods naturally
• it's likely they will be infertile (unable to have a baby) without assistance

Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. This means they are able to have a normal sex life following treatment with female hormones.

Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about three years later with added progesterone to bring on monthly periods.

A minority (10%) of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number (1%) become spontaneously pregnant.

Other symptoms

There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. Some of these are listed below.

General features

• a particularly short, wide neck (webbed neck)
• a broad chest and widely spaced nipples
• arms that turn out slightly at the elbows
• a low hairline
• mouth abnormalities, which can cause problems with the teeth
• a large number of moles
• small, spoon-shaped nails
• a short fourth finger or toe

Eyes

• eyes that slant downwards
• droopy eyelids (ptosis)
• a squint (strabismus)
• lazy eye (amblyopia)
• cataracts cloudy patches in the lens at the front of the eye
• short-sightedness (myopia)

Ears

• low-set ears
• recurring middle ear infections (otitis media) and glue ear during early childhood
• hearing loss this can occur in later life, but is often more severe and develops earlier than the normal age-related decline in hearing

Associated conditions

Turner syndrome is often associated with a number of other health conditions. Some of these include:

• heart murmur where the heart makes a whooshing or swishing noise between beats; this is sometimes linked to a narrowing of the main blood vessel in the heart (the aorta) and high blood pressure
• kidney and urinary tract problems this can increase the risk of developing urinary tract infections (UTIs) and high blood pressure
• underactive thyroid gland (hypothyroidism) this occurs in around 10-30% of women with Turner syndrome; regular blood tests are needed to detect it early before it causes symptoms
• high blood pressure (hypertension)
• osteoporosis (brittle bones) in adult life, this may developif oestrogen isn't adequately replaced by HRT
• scoliosis (abnormal curvature of the spine) this should be screened for
• diabetes a lifelong condition that causes a person's blood sugar level to become too high
• obesity this increases the risk of type 2 diabetes and stroke, and can be reversed by following a healthy diet with regular exercise
• lymphoedema this can occur at any age, not just in newborn babies
• bleeding in the digestive system caused byabnormalities in the blood vessels in the intestines
• other digestive conditions conditions such as Crohn's disease and ulcerative colitis are more common in females with Turner syndrome, but are still rare

Learning difficulties

Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties.

Social intelligence

About a third of girls with Turner syndrome have problems understanding social relationshipsbecause ofthe way their brain develops.

This can make it difficultto sustain friendships and leads to relationship problems in later life, both at home and at work.

Spatial awareness and numeracy

Spatial awareness is the ability to understand where you are in relation to objects or other people.

More than8 out of 10 females with Turner syndrome have difficulty understanding spatial relationships. This may cause problems when learning to drive orfollowing directions on a map.

A similar number have some degree of difficulty learning or understanding maths. This is known as dyscalculia.

Attention and hyperactivity problems

Typically, girls with Turner syndrome will go through a phase in childhood that involves:

• physical overactivity, such as constant fidgeting and restlessness
• acting impulsively, such as breaking rules or having no sense of danger
• having a short attention span and being easily distracted

Attention and hyperactivity problemsusually begin when the girl is a toddler, but may not be a serious problem until the girl starts school at four or five years of age. Girls with Turner syndrome may have difficulty settling in class.

Medicines usually given to treat symptomsof attention deficit hyperactivity disorder (ADHD) may not beas effective in cases of Turner syndrome.

The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.