The following description of Turner Syndrome (TS) and explanation of some of the issues involved in living with Turner syndrome are not definitive and a doctor or endocrine specialist should always be consulted whenever a diagnosis of Turner syndrome has been given.

 

The Turner Syndrome Support Society [UK] and other International Turner Syndrome support groups can help with practical information on living daily with TS and can in most cases offer contact with other girls and women with TS and their families. Information about Turner syndrome can be found on the internet and in books; sadly this information is not always correct, and the TSSS therefore strongly recommends that anyone concerned about TS should consult a health professional who specialises in Turner syndrome.

In brief

Turner syndrome (TS) is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births.

Confirmation of a diagnosis of TS is by karyotype but a suspected diagnosis can be made by a series of characteristic physical features i.e. web neck, broad chest and widely spaced nipples, low hairline and increased carrying angle of the elbows and other features. Two main clinical features of TS are short stature and non-functioning ovaries. Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet. Pre-natal diagnosis is sometimes made by chorionic villous sampling, amniocentesis or ultra sound. However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present. The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.

Turner Syndrome (TS)

The majority of girls and women with TS are healthy and happy and lead normal lives.

Turner syndrome is named after an American endocrinologist Dr Henry Turner who, in 1938 described seven women patients with similar physical features including short stature and the absence of female sexual characteristics, increased skin folds in the neck and a wide carrying angle of the arms. Earlier [1930] a German paediatrician, Otto Ullrich, had described the same physical characteristics in female patients. TS is sometimes known as Ullrich-Turner syndrome. It was not until 1959 after the technique for analysing human chromosomes was developed that it was reported that one of the X chromosomes was missing in TS. Later it was shown that the X chromosome can be missing from just some of the body cells or only part of the X chromosome can be missing.

Chromosomes

Chromosome analysis [karyotype] is how a diagnosis of TS is confirmed.

Chromosomes are genetic material inherited 50/50 from both parents. Normally each cell in the body has 23 pairs of chromosomes which make 46 chromosomes in total. One pair of chromosomes are the sex chromosomes and these determine the sex of a baby. In a male there will be an X and a Y chromosome[46XY] and in a female there will be two X chromosomes [46XX]. In TS there is only one X chromosome instead of the usual two [45X or 45XO] the O represents the missing X chromosome. The missing X chromosome, [from either the mother’s egg or the father’s sperm] is an accident and is lost during the cell division that follows conception. 45XO is known as classic TS. Sometimes the X chromosome is missing from only some of the cells [46XX/45XO] and this is known as Turner mosaic. There are a number of other variations in the karyotype for TS, including ring chromosomes. Sometimes a small part of a Y chromosome may be present in TS this is known as mixed gonadal dysgenesis. A geneticist will give a full description of a karyotype and genetic counselling is recommended for all those diagnosed as having TS.

Physical features and clinical characteristics

TS baby's hand and feet with lymphoedema.

The term ‘syndrome’ is used to describe a collection or combination of symptoms which result from a single cause, it does not necessarily mean that all are present in the person who has a syndrome. There are number of physical features and clinical characteristics which may or may not be present in the girl/woman with Turner syndrome. The following is not a comprehensive list but gives some of the possible features of TS:

• Lymphoedema of hands and feet [puffy hands and feet]
• Broad chest and widely spaced nipples
• Droopy eyelids
• Low hairline
• Low-set ears
• Spoon shaped, or small, or hyperconvex nails
• Short fourth toe and short fingers
• Web neck
• High arch palate [which can sometimes lead to feeding problems in babies with TS]
• Short stature
• Cubitus Valgus [carrying angle of the arms where it is difficult to straighten the elbow]
• Otitis media [middle ear infections]
• Hearing problems
• Myopia [short sightedness]
• Pigmented naevi [moles]
• Infertility
• High blood pressure
• Kidney and urinary tract problems
• Coarctation [narrowing or constriction of the aorta]
• Thyroid problems
• Small lower jaw [can lead to orthodontic problems]
• Osteoporosis [due to lack of oestrogen, a result of ovarian failure]
• Diabetes mellitus
• Behavioural problems
• Learning difficulties/spatial awareness problems [not mental retardation]

 

Our story starts when we found out we were expecting we have 3 beautiful children but there was always part of the jigsaw missing we had lost 7 babies so we knew this was our last chance, at the time we were living in Northern Ireland with my husbands job we were put in touch with a proff Andy Shennen who took and interest in women who had lost babies so we flew to St Thomas hosptial in London to meet with him it was on that day we saw you Matilda for the first time a tiny little blob on a very big screen.

He offered to put us on the Mavric trial and i went in to have an abdonimal stitch put in to give us the best chance of keeping you as we returned to Northern Ireland i got sick and was placed in hosptial it was the next few days our world was turned up side down we were told that Matilda had a large cystic hygroma I was sent for a CVS and those few days while we waited for the results felt like a lifetime were were told it could be Turners Syndrome which we had never heard of before but Matilda was a little fighter each scan she was hanging on and proving the doctors all wrong as my tummy grew I knew she was going to be ok. We got the phone call that it was infact Turners Syndrome and to go into see the consultant he gave us the choice to not carry on with the pregnancy but we wanted to give Matilda the best chance we could. We did everything we could to find out about Turners and spoke with many people about it.. I was amazed how little people knew about this even doctors. when I was 17weeks i went for a routine scan as me and my husband chris sat there i had this awful feeling overcome me as she put the jelly on my tummy my husband squeezed my hand that little bit harder... She just said I am very sorry she has passed away i then waited 3weeks and on 4th May 2011 Matilda went to be with the Angels.. I want to raise money and awarness about Turners Syndrome and hope that in time less babies are lost through this. thankyou

 

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