Nearly 10,000 women are affected by Turner syndrome in France, a genetic anomaly that causes short stature and potentially heart or kidney malformations.
Turner syndrome is a genetic abnormality which most often results in a small size and one failure of the ovaries to function. Turner syndrome affects 1 in 2,500 women, i.e. nearly 10,000 women in France. “Turner syndrome is linked to a chromosomal abnormality: that is to say,all or part of one of the X chromosomes is missing in womenexplains Professor Barat, pediatric endocrinologist at Bordeaux University Hospital. This will have several consequences on patients who suffer from it, such as small sizea lack of development of the ovaries as well as cardiac and/or renal abnormalities“. If the manifestations of Turner syndrome can be very variable depending on the patient, in general, we find growth retardation and lack of pubertal development. “Certain morphological abnormalities are also suggestive of the syndrome: lower ear implantation, shorter neck, nipples a little apart, etc.” adds Professor Barat.
Karyotype helps confirm the diagnosis
After clinical examination, in the event of suspicion of Turner syndrome, the doctor will request the establishment of a karyotype from a blood sample. If the diagnosis is confirmed, the patient must then be followed regularly by a specialist in the pathology and additional examinations may be requested: Pelvic ultrasound in order to visualize the ovaries, Echocardiography to study the heart and vessels, ophthalmological and ENT follow-upetc. “It also happens that the diagnosis is made antenatally, following the discovery during an ultrasound of a thickening of the neck, short stature or a heart defect that alerts the doctor” confides Professor Barat.
The height prognosis of an affected woman is 1.44 m
Before puberty, the implementation of treatment with growth hormone allows young patients to reach a height greater than 1.50 m. “You should know that the height prognosis of a woman with Turner syndrome is 1.44 m, specifies Professor Barat. The sooner we treat, the more the patient will be able to benefit from a gain in size.. At the time of puberty, hormone replacement therapy will allow pubertal development and will reduce the risk of osteoporosis“. Women with Turner syndrome have a uterus and may benefit from in vitro fertilization. “On the other hand, these patients being at risk, before any pregnancy, a health check-up – cardiovascular, nephrological, etc. – will be drawn up to verify that there are no particular contraindications and the woman will be monitored throughout the duration of her pregnancy” warns the pediatric endocrinologist. If Turner syndrome allows a completely normal survival, certain comorbidity factors – cardiac damage, etc. – should not be neglected.
Thanks to Professor Barat, pediatric endocrinologist at Bordeaux University Hospital and president of the French Society of Pediatric Endocrinology and Diabetology.