Short stature and other signs of early recognition of Turner syndrome

Today August 28 marks the World Turner Syndrome Day by the American endocrinologist Henry Turner, who in 1938 described this pathology for the first time.

It is a chromosomopathy, which affects women and results from the partial or total loss of an X chromosome in association with one or more clinical manifestations.

With the small size as the most distinguishing feature, the disease has an incidence of 1/2000 to 1/3000 newborns and can be diagnosed from pregnancy to about seven years of age, when the vast majority of cases are defined.

“It can occur in utero with stunted growth during pregnancy, birth defects that can be heart, kidney or lymphatic vessels, but it should be taken into account that there are cardinal signs of this disease, which are the left heart defect and the cystic hygroma which occurs due to poor development of lymph vessels accumulating fluid in the neck ”. Pediatric endocrinologist Claudia Hernández (MN 82949) began to explain to Infobae What “In newborns this pathology can be observed by a decrease in weight and height for gestational age, the presence of lymphedema (swelling) of the hands and feet, which must be excluded due to ‘an associated congenital malformation such as coarctation of the aorta ”.

Besides, Other features that will differentiate it from another newborn baby may be the winged neck and the low position of the ears.said the staff doctor of the endocrinology department of the Pedro de Elizalde pediatric hospital.

In childhood, the main feature that continues to be short stature is added that “Growth slows down around the age of three and is maintained during childhood, so in a patient in whom the causes of short stature are not explained, this disorder should be considered.”Hernández underlined, adding: “You may also notice features like almond-shaped eyes, large breasts, parted nipples, dysplastic nails.”.

“They also have kidney malformations such as horseshoe kidneys or pyelocalyced dilations.. And it can also be associated with recurrent ear infections, sensory deafness, thyroiditis, celiac disease, inflammatory diseases, cognitive problems, and only in 10% of cases there are varying degrees of intellectual disability, “added the pediatric endocrinologist Ana Keselman (MN 68069).), from the endocrinology department of the Ricardo Gutiérrez Children’s Hospital.

If up to this point the disease has not been detected, “In adolescence, delayed puberty, caused by ovarian failure in these patients, is characteristic in addition to the short stature and phenotype described above.Since by not producing sex steroids, the clinical features of puberty do not occur, as well as menarche or the first menstruation, ”said Hernández, who pointed out that although Turner syndrome can be diagnosed at different stages of growth, “The diagnosis is usually made between the ages of seven and seven and a half in late childhood.”

About diagnosis and treatment

“The diagnosis is confirmed by carrying out a karyotype”, explained Keselman, who is the secretary of the Argentinian Pediatric Society (SAP) National Child Endocrinology Committee.

And Hernández developed: “In patients who present with clinical features, a karyotype should be done, which is the determination in the blood that tells us the number, size and shape of chromosomes.”

And as it is often said in most diseases, “An early diagnosis can condition and optimize the treatment of short stature, delayed puberty and comorbidities of the syndrome”, he stressed.

The main treatment is aimed at treating short stature. And at this point, “the use of recombinant growth hormone was approved in 2007 in Argentina from the age of four Keselman pointed out. The treatment is applied daily subcutaneously and the time of the same is extended. The goal of it is to improve height during childhood and adulthood and for that it has to start early ”.

“This drug allows a short-term effect, which would be the resumption of growth and, in the long term, it improves the final height, bringing it closer to the general population,” added Hernández.

The second point to be addressed is delayed puberty, which is treated with the induction of puberty by hormonal therapy at the age of 11-12 years, which is the usual age of onset. “It seeks to mimic development as much as possible to obtain secondary sexual characteristics and thus strengthen self-esteem, cognitive motor function, the patient acquires adequate bone mass and improves the cardiovascular profile by affecting the pro-inflammatory state of the vascular system present in ovarian failure, ”explained Hernández.

“Other treatments should be done depending on what is found individually in each patient, such as the treatment of hypothyroidism, recurrent ear infections, necessary treatments for heart disease or hypertension, appropriate psycho-educational interventions, etc. several pediatric specialties such as endocrinology, cardiology, genetics, nutrition, otolaryngology, among others ”.

Asked about the impact of this disease on the quality of life of those who suffer from it and on their prognosis, the specialist considered that “Early detection and diagnosis are essential to be able to perform the necessary interventions adapted to the needs of each patient and thus improve their quality of life and lead a normal life.”

For Hernández, “what conditions the quality of life the most is the short stature and the lack of secondary sexual characteristics, which worsen self-esteem and hinder social integration, as well as the co-morbidities that could appear” .

“Cardiovascular problems are the main health problem for these patients. and not only because of the possibility of suffering from congenital heart disease, but also because of the existence of generalized cardiovascular disease which, added to hypertension, has a death rate four times higher than the population general in terms of ischemic heart disease and stroke. “, Underlined the specialist, who at this stage underlined that the average lifespan of these patients “is 10 to 13 years less than that of the general population and this is linked to whether or not there is cardiovascular disease, which is why control is so important both in childhood and in adulthood ”.

It should also be remembered that alterations in ophthalmological refraction, otorhinolaryngology (recurrent otitis and different degrees of deafness), orthopedic alterations such as scoliosis and syphosis, dermatological alterations (nevomelanocytes)

Finally, when asked if a patient with Turner syndrome leads a normal life, Hernández pointed out: “Of course, if a girl with Turner syndrome receives early intervention, proper medical care, with good follow-up and ongoing support, she can lead a normal life.”

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