If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Thyroid disorders produced by alternative providers. NHS websitewww.nhs.uk/conditions (overactive) www.nhs.uk/conditions (underactive) Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? British Thyroid Foundation Tel: 01423 810 093Email: via websiteWebsite: btf-thyroid.org The Foundation is a Registered Charity in England and Wales No. 1006391. It provides information and support to affected adults and families of children with thyroid disorders. Group details last reviewed September 2023. Thyroid UK Email: via websiteWebsite: thyroiduk.org The Organisation is a Registered Charity in England and Wales No. 1125270. It provides information and support for people with diagnosed and undiagnosed thyroid disorders. Group details last reviewed September 2023. Support is also available from a group of families of children with hypothyroidism under the umbrella of Metabolic Support UK (see entry Inherited Metabolic diseases).
Is there support? British Thyroid Foundation Tel: 01423 810 093Email: via websiteWebsite: btf-thyroid.org The Foundation is a Registered Charity in England and Wales No. 1006391. It provides information and support to affected adults and families of children with thyroid disorders. Group details last reviewed September 2023. Thyroid UK Email: via websiteWebsite: thyroiduk.org The Organisation is a Registered Charity in England and Wales No. 1125270. It provides information and support for people with diagnosed and undiagnosed thyroid disorders. Group details last reviewed September 2023. Support is also available from a group of families of children with hypothyroidism under the umbrella of Metabolic Support UK (see entry Inherited Metabolic diseases).
Is there support? British Thyroid Foundation Tel: 01423 810 093Email: via websiteWebsite: btf-thyroid.org The Foundation is a Registered Charity in England and Wales No. 1006391. It provides information and support to affected adults and families of children with thyroid disorders. Group details last reviewed September 2023. Thyroid UK Email: via websiteWebsite: thyroiduk.org The Organisation is a Registered Charity in England and Wales No. 1125270. It provides information and support for people with diagnosed and undiagnosed thyroid disorders. Group details last reviewed September 2023. Support is also available from a group of families of children with hypothyroidism under the umbrella of Metabolic Support UK (see entry Inherited Metabolic diseases).
Triple-X syndrome is a chromosomal condition which occurs only in females. A chromosome is a rod-like structure present in the nucleus of all cells in the body, with the exception of the red blood cells, which stores genetic information. Normally humans have 23 pairs of chromosomes, 46 chromosomes in total. The 23 pair, otherwise referred to as the sex chromosomes, stores genetic information which determines our sex. A male has a XY pair and a female has a XX pair of chromosomes. A female affected by triple-X syndrome has an XX pair of chromosomes, as well as additional X chromosome, resulting in the formation of XXX. In addition to there being an extra X chromosome in every cell a mosaic form also occurs where only a percentage of body cells contain XXX while the remainder carry XX. The extent to which an individual is affected by the mosaic condition will depend upon the proportion of cells with XXX to XX throughout the body. In this article What are the symptoms of triple-X syndrome? The effect of having an extra X chromosome can be very varied. Some females with triple-X syndrome show no, or very few, symptoms and are entirely ‘normal’, whilst others have a lot of typical features. At birth, girls with triple-X syndrome are usually normally developed, although babies may be floppy (hypotonic) and weight may be slightly lower than average. Many girls have a ‘growth spurt’ up until the age of eight years and women tend to be a little taller than average. With the ‘full blown’ condition, girls with triple-X syndrome are at risk of delays in neuromotor development, which can lead to coordination problems including both gross motor skills and/or fine motor skills. Learning ability and/or impaired social relationship skills may also be present. Behavioural problems including tantrums, shyness and emotional immaturity are rather more frequent than in girls with XX chromosomes. Delays in speech and language development are frequent. Sexual development is normal and triple-X women are fertile though there is a slight increased risk of sex chromosome changes in their children. Individuals with triple-X syndrome have no increased risk of any diseases during childhood or in adult life. How is triple-X syndrome diagnosed? Because many girls with triple X syndrome are healthy and have a normal appearance, they may remain undiagnosed all their lives, or the diagnosis may be discovered while investigating for other reasons. After birth, triple X syndrome can be diagnosed by performing a chromosome analysis on a blood sample. How is triple-X syndrome treated? Management of the condition involves offering girls and women with appropriate support so they can develop to their full potential. There is no cure for the condition. Girls with triple-X syndrome are at risk of becoming socially isolated, particularly in the face of environmental stressors. A supportive and encouraging environment providing psychological, social and motor stimulation is, therefore, beneficial. Speech and language therapy may be beneficial. Inheritance patterns and prenatal diagnosis Inheritance patternsTriple-X syndrome occurs sporadically and is not usually passed on from a mother with triple-X syndrome to her daughters. However, there is an increased risk of the condition occurring in the children of older mothers. Prenatal diagnosisChorionic villus sampling at ten to 12 weeks or amniocentesis at about 16 weeks is available to all mothers with triple X syndrome, and routinely to older mothers, to confirm or exclude triple X syndrome. What support is there for people diagnosed with triple-X syndrome and their families? If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service. We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process. We’ve listed some support groups below and you can also meet other parents online in our closed Facebook group. Triple-X Family Network Support Group Tel: 020 8690 9445Email: helenclements@hotmail.com This is a small support network, established in 1997. It offers support to families of affected children and has information available. There are over 360 families in touch with the network. Group details last updated October 2015. Credits Medical text written August 2002 by Contact a Family. Approved August 2002 by Dr R Stanhope. Last updated February 2013 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. This entry is pending review, and certain details may no longer be up to date. Please ring our helpline or email our Rare Conditions Information Officer for more information.
Also known as: Bonnevie-Ullrich; Gonadal Dysgenesis (XO); Monosomy X; Turner-Ullrich; XO syndrome Background Dr Henry Turner reported a number of girls with the features of Turner syndrome in a paper in 1938. It is a chromosomal condition affecting 1 in 2,000 girls where the second X chromosome is absent or a part of it is missing. It is one of the most common chromosomal disorders. Credits Medical written November 1995 by Dr R Stanhope. Last updated March 2012 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London, UK. What are the symptoms? Turner syndrome is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility. Growth hormone secretion is nearly always normal. The ovaries normally produce the sex hormones oestrogen and progesterone during puberty however, most girls who have Turner syndrome will not produce these sex hormones, which means that they: may not start their periods naturally may not fully develop breasts may be infertile (unable to conceive a baby). Other physical features associated with Turner syndrome may include coarctation of the aorta (narrowing of part of the aorta – the major artery leading out of the heart), webbing of the neck (skin fold that runs along the sides of the neck down to the shoulders), wide spaced nipples and puffy hands and feet. This is due to lymphoedema – a condition where when excess fluid is unable to drain from the organs and body and leaks into the surrounding tissues. Sleeping and feeding difficulties may occur in early childhood and though intelligence spans the normal range there can be learning and behavioural difficulties. Verbal abilities are often found to be significantly better than visuo-spatial abilities (abilities to judge spaces and shapes). Many affected girls experience difficulties in their peer relationships. They may seem immature, have poor social skills and be unassertive, shy and socially anxious. They may also have difficulties related to poor concentration, distractibility and overactivity. There is a risk of low self-esteem, and social withdrawal and depression in adulthood. That said, many adult women attain high goals in their personal, academic and occupational lives. How is it diagnosed? The diagnosis is confirmed by examination of chromosomes from the blood cells (karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism. How is it treated? Despite normal growth hormone secretion, treatment with growth hormone has demonstrated an increase in final stature. At an appropriate age, girls are given oestrogen and progesterone replacement therapy in order to develop secondary sexual characteristics, such as breasts, pubic hair and the introduction of regular periods, which is important to keep the uterus (womb) healthy. If learning difficulties are experienced, then appropriate support, especially in an education setting should be given. Psychological support may be needed if young women experience problems with low self-esteem, self-image and depression. Inheritance patterns and prenatal diagnosis Inheritance patternsThis is a sporadic event and is not linked to the age of the mother. It is very rare to have a second child with Turner syndrome. Prenatal diagnosisTurner syndrome is sometimes suspected in pregnancy during a routine ultrasound. In these cases, it is usually lymphoedema that is noted. Chorionic villus sampling at nine to 12 weeks and amniocentesis at 16 weeks. Is there support? Turner Syndrome Support Society Helpline: 0300 111 7520Email: turner.syndrome@tss.org.ukWebsite: tss.org.uk The Society is a Registered Charity in England and Wales No. 1080507, and in Scotland No. SCO 37932. It offers support, advice and information to girls and women with Turner Syndrome and their families. The Society holds an annual conference and open days around the UK. Members have access to a membership network for social contact with others throughout the UK. Group details last updated January 2016.
What are the symptoms? Turner syndrome is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility. Growth hormone secretion is nearly always normal. The ovaries normally produce the sex hormones oestrogen and progesterone during puberty however, most girls who have Turner syndrome will not produce these sex hormones, which means that they: may not start their periods naturally may not fully develop breasts may be infertile (unable to conceive a baby). Other physical features associated with Turner syndrome may include coarctation of the aorta (narrowing of part of the aorta – the major artery leading out of the heart), webbing of the neck (skin fold that runs along the sides of the neck down to the shoulders), wide spaced nipples and puffy hands and feet. This is due to lymphoedema – a condition where when excess fluid is unable to drain from the organs and body and leaks into the surrounding tissues. Sleeping and feeding difficulties may occur in early childhood and though intelligence spans the normal range there can be learning and behavioural difficulties. Verbal abilities are often found to be significantly better than visuo-spatial abilities (abilities to judge spaces and shapes). Many affected girls experience difficulties in their peer relationships. They may seem immature, have poor social skills and be unassertive, shy and socially anxious. They may also have difficulties related to poor concentration, distractibility and overactivity. There is a risk of low self-esteem, and social withdrawal and depression in adulthood. That said, many adult women attain high goals in their personal, academic and occupational lives. How is it diagnosed? The diagnosis is confirmed by examination of chromosomes from the blood cells (karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism. How is it treated? Despite normal growth hormone secretion, treatment with growth hormone has demonstrated an increase in final stature. At an appropriate age, girls are given oestrogen and progesterone replacement therapy in order to develop secondary sexual characteristics, such as breasts, pubic hair and the introduction of regular periods, which is important to keep the uterus (womb) healthy. If learning difficulties are experienced, then appropriate support, especially in an education setting should be given. Psychological support may be needed if young women experience problems with low self-esteem, self-image and depression. Inheritance patterns and prenatal diagnosis Inheritance patternsThis is a sporadic event and is not linked to the age of the mother. It is very rare to have a second child with Turner syndrome. Prenatal diagnosisTurner syndrome is sometimes suspected in pregnancy during a routine ultrasound. In these cases, it is usually lymphoedema that is noted. Chorionic villus sampling at nine to 12 weeks and amniocentesis at 16 weeks. Is there support? Turner Syndrome Support Society Helpline: 0300 111 7520Email: turner.syndrome@tss.org.ukWebsite: tss.org.uk The Society is a Registered Charity in England and Wales No. 1080507, and in Scotland No. SCO 37932. It offers support, advice and information to girls and women with Turner Syndrome and their families. The Society holds an annual conference and open days around the UK. Members have access to a membership network for social contact with others throughout the UK. Group details last updated January 2016.
What are the symptoms? Turner syndrome is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility. Growth hormone secretion is nearly always normal. The ovaries normally produce the sex hormones oestrogen and progesterone during puberty however, most girls who have Turner syndrome will not produce these sex hormones, which means that they: may not start their periods naturally may not fully develop breasts may be infertile (unable to conceive a baby). Other physical features associated with Turner syndrome may include coarctation of the aorta (narrowing of part of the aorta – the major artery leading out of the heart), webbing of the neck (skin fold that runs along the sides of the neck down to the shoulders), wide spaced nipples and puffy hands and feet. This is due to lymphoedema – a condition where when excess fluid is unable to drain from the organs and body and leaks into the surrounding tissues. Sleeping and feeding difficulties may occur in early childhood and though intelligence spans the normal range there can be learning and behavioural difficulties. Verbal abilities are often found to be significantly better than visuo-spatial abilities (abilities to judge spaces and shapes). Many affected girls experience difficulties in their peer relationships. They may seem immature, have poor social skills and be unassertive, shy and socially anxious. They may also have difficulties related to poor concentration, distractibility and overactivity. There is a risk of low self-esteem, and social withdrawal and depression in adulthood. That said, many adult women attain high goals in their personal, academic and occupational lives.
How is it diagnosed? The diagnosis is confirmed by examination of chromosomes from the blood cells (karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism.
How is it treated? Despite normal growth hormone secretion, treatment with growth hormone has demonstrated an increase in final stature. At an appropriate age, girls are given oestrogen and progesterone replacement therapy in order to develop secondary sexual characteristics, such as breasts, pubic hair and the introduction of regular periods, which is important to keep the uterus (womb) healthy. If learning difficulties are experienced, then appropriate support, especially in an education setting should be given. Psychological support may be needed if young women experience problems with low self-esteem, self-image and depression.
Inheritance patterns and prenatal diagnosis Inheritance patternsThis is a sporadic event and is not linked to the age of the mother. It is very rare to have a second child with Turner syndrome. Prenatal diagnosisTurner syndrome is sometimes suspected in pregnancy during a routine ultrasound. In these cases, it is usually lymphoedema that is noted. Chorionic villus sampling at nine to 12 weeks and amniocentesis at 16 weeks.
Is there support? Turner Syndrome Support Society Helpline: 0300 111 7520Email: turner.syndrome@tss.org.ukWebsite: tss.org.uk The Society is a Registered Charity in England and Wales No. 1080507, and in Scotland No. SCO 37932. It offers support, advice and information to girls and women with Turner Syndrome and their families. The Society holds an annual conference and open days around the UK. Members have access to a membership network for social contact with others throughout the UK. Group details last updated January 2016.