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«Turner Syndrome A Guide for Parents and Patients SERIES 1 SERIES 2 SERIES 3 SERIES 4 SERIES 5 SERIES 6 SERIES 7 SERIES 8 SERIES 9 SERIES 10 SERIES 11 ...»

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“Some older girls had not been told until adolescence. They wished they could have been told earlier because it was worse not knowing and wondering what was wrong”.

FEATURES OF TURNER SYNDROME

These are the features associated with Turner Syndrome. It Is very Important to remember that it is unlikely for any girl to have all the associated features. Parents with a baby may be concerned that their daughter will attain some more physical characteristics as she gets older. This is not so. as the physical characteristics do not change markedly through life.

Features (in alphabetical order not order of importance or frequency).

• Broad chest with widely spaced nipples

• Chronic middle-ear infections

• Constriction or narrowing of the aorta (coarctation)

• Cubitus Valgus (increased carrying angle of the elbows)

• Diabetes mellitus

• Droopy eyelids (ptosis)

• Dry skin

• Eczema

• Feeding difficulties in early life (usually associated with the high arched palate)

• Folds of skin on the ridge of the eye

• Gastrointestinal problems

• Hearing problems

• Heart murmur

• High blood pressure

• Hypothyroidism (reduced thyroid function)

• Infertility

• Keloid formation (formation of raised scar tissue)

• Kidney and urinary tract problems

• Learning difficulties

• Long-sightedness (hypermetropia)

• Low hairline

• Low-set ears

• Lymphoedaema (build-up of fluid in the limbs)

• Micrognathia (small jaw)

• Narrow high arched palate

• Non-functioning ovaries

• Pigmented naevi (moles)

• Short fingers and toes

• Short-sightedness (myopia)

• Short stature

• Soft spoon-shaped nails which turn up at the tips

• Squint

• Webbed neck SUMMARY The diagnosis of Turner Syndrome is often possible at birth (or even before the baby is born) but it is more usually identified in early childhood when growth progressively slows down or, even later, when puberty fails to occur. As soon as the diagnosis is made, it is recommended that every girl with Turner Syndrome should be referred to the care of a growth specialist (Paediatric Endoncrinologist) who is experienced in the overall management of Turner Syndrome. In very rare cases, there can be an additional chromosome abnormality, and it is therefore very important to have an accurate chromosome analysis (karyotype) done to confirm the diagnosis. As adults, with the advice of a specialist, it is important to continue adequate hormone replacement therapy in the form of oestrogens, probably past the normal age for the menopause. This is required for several reasons, including the prevention of osteoporosis and maintenance of a healthy womb. In addition, blood pressure and thyroid function should be regularly monitored.

“I came to the conclusion that people should be made more aware of Turner Syndrome and what it is. I also came to that conclusion because of the trouble all the girls I know had in getting a diagnosis”.

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