Good afternoon. My name is Denise Gruccio, and I am a nurse practitioner in the Turner Syndrome Program here at the Children's Hospital of Philadelphia. I am going to talk about Turner syndrome, a genetic disorder that occurs in 1 out of 2500 live female births. Turner syndrome results from either the partial or complete absence of the second sex chromosome. The 2 main features of Turner syndrome are short stature and gonadal failure. Short stature can occur in 98% and gonadal failure in 95% of girls with Turner syndrome.
There are several medical conditions that also can occur in Turner syndrome. These include cardiac defects, particularly left-sided heart defects, including coarctation of the aorta and bicuspid aortic valve. Girls with Turner syndrome can also have systemic hypertension. Renal anomalies can occur and include duplex kidney and duplex collecting system. Girls with Turner syndrome can have hearing loss, both sensorineural and conductive hearing loss, as well as chronic otitis media. They can have visual issues. They could have scoliosis. These girls also have an increased risk for several autoimmune disorders, including thyroiditis, type 1 diabetes, and celiac disease.
There are many other physical features common to girls with Turner syndrome. On examination you may note a high arched palate, low-set posteriorly rotated ears, webbed neck, and also a short neck. Their chest can appear broad and shield-like. They can have hypoplastic nipples. They can have cubitus valgus or a wide carrying angle. They can have an increased number of pigmented moles, lymphedema, and puffiness of the hands and feet. You may also see scoliosis, as previously mentioned.
It is important to remember that although girls with Turner syndrome can have many of these physical features, there are also some girls that can have very few of the physical features that I have listed. Therefore, it is very important that when evaluating a child demonstrating growth failure that is unexplained -- a height less than the fifth percentile, growth percentiles not in keeping with their family genetics, or lack of pubertal onset -- to still consider Turner syndrome in your differential. This is regardless of whether they have the physical features common in Turner syndrome. In these circumstances, order a karyotype through peripheral blood.
The ways that Turner syndrome can present can vary depending on the age of the child. The prenatal testing that is now done is often one source of making the diagnosis. That could include chorionic villus sampling, amniocentesis, and findings on ultrasound.
In the newborn period, Turner syndrome is often picked up if the child is born with a cardiac defect, presents with puffy hands or feet secondary to lymphedema, or if it is noted that the baby is born with webbing of the neck.
If not identified in the newborn period, sometimes a diagnosis is delayed until toddlerhood or even early school-age years when a child presents with growth failure or short stature. At times, the diagnosis of Turner syndrome is even delayed further and not diagnosed until a lack of pubertal onset is noted in the pubertal years.
We are often asked a lot of questions about treatment options for girls with Turner syndrome, specifically for their short stature and gonadal failure. Growth hormone is approved for use in girls with Turner syndrome to treat their short stature. Growth hormone is likely to improve their growth rate and likely to increase the final height outcome. We know that treating with growth hormone earlier leads to a better final height. It is recommended that growth hormone therapy be started as soon as growth failure is documented. In terms of treatment for gonadal failure, estrogen replacement therapy is used, and the initiation and progression of estrogen therapy is often done in a way to mimic the natural progression of puberty.
Thank you for your time.
Comment: In India the diagnosis of Turner's Syndrome is girls is generally missed at birth, and mostly made when growth failure occurs and parents report to pediatricians with a lack of puberty and short stature.
It is important to make sure that the common problems mentioned above are screened for by a visual and hearing assessment and an Ultrasound of the kidneys at least. Treatment is generally undertaken by the endocrinologist in our set up.