Syndrome of Turner

The syndrome of Turner is a chromosomal Maladie characterized by a Monosomie on the level of the pair of sexual chromosomes. Indeed the person reached has one X chromosome and is almost always sterile. The Phénotype is almost always female, but a male phenotype is possible exceptionally in the event of mosaic. The syndrome is also characterized by a small size, and other signs present in a different way in the patients: presence of a great number of nævi (beauty spots), Lymphœdème of the hands and feet with the birth, etc Certains cardiac problems , renal or auditive can also appear.

There exist cases where all the cells are concerned with this absence of X chromosome: in this case the chromosomic chart is known as 45X . In approximately 20% of the cases, one finds at the same time cells 45X and cells 46XX: it is then about a syndrome of Turner in mosaic .

The frequency of this syndrome is of a female birth on 2500, or 1 birth (male or female) on 5000. The syndrome of Turner is regarded as a Rare disease.

In certain cases, a spontaneous Puberty and a fertility can develop (mainly in the case of Turner in mosaic)

Description

At Nourisson

  • Small size
  • Lymphœdème of the hands and the feet
  • Excess of skin in the nape of the neck (syndrome of Bonnevie-Ulrich)

At the little girl and the teenager

  • Small size - Impubérisme (not in all the cases)

Facial Dysmorphie Cranio

  • triangular Face. palpebral Slit S obliques in bottom and outwards
  • Ptosis
  • lowered labial Epicanthus
  • Commissure
  • Hypoplasie of the lower Jawbone
  • Rétrognatisme

Neck-Thorax-abdomen

  • Hair established very low in the nape of the neck
  • broad Ptérygium colli
  • Thorax. Isolated nipples

Members

  • Ulna valgus
  • Shortening of 4th and 5th Métacarpien S.
  • Crushing of the shinbone intern

Skin and Superficial body growths

  • pigmentary Nævus

Genitals

  • normal pubic Pilosité
  • Pilosité axillaire goes away
  • Atrophie from the Gonade S
  • Utérus Hypoplasique

Malformations

  • Heart and vessels: coarctation of the Aorta
  • Kidneys: horseshoe kidneys
  • Skeleton: lowering of the shinbone intern (sign of Kosowizc), delay of the osseous age

Treatment

The small size is looked after by a treatment of Growth hormone until the maximum size is reached. Then begin a treatment by sex hormones from synthesis in order to allow the development of the young girls.

The treatments and the assumption of responsibility largely improved the situation of the young people turnériennes.

History

The syndrome was discovered by Henri Turner, an American doctor who described, in 1938, a in particular associating Syndrome, at a woman of small size, a impuberism without secondary sexual characters (Sein S and pilosity), and the frequent presence of a side cutaneous fold of the neck.

At the time, description was purely clinical, because one did not determine yet the Caryotype S. the first chromosomic charts go back to 1959. The following year, Mr Ford described the existence of monosomy X, i.e. the absence of an X chromosome, which characterizes the most frequent syndromes of Turner.

In 1965, the anomalies of X were described for the first time. The first treatments of the small size of the syndrome of Turner by the growth hormone, date from the Années 1990. (1986, Marketing authorization under protocol)

Source

  • Association groups Amitié Turner

External bond

  • Orphanet
  • Turner Syndrome Society

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