Turner Syndrome Discussion Response

Week 5 Clinical

There wasn’t any specific challenge this week. It is always challenging to fit the clinical rotation time into my work and family schedule. This office is busy and I’m getting the opportunity to see a lot of children. The nurse practitioners here will let us perform a lot of the exams and then also ask us about the course of treatment that we recommend. They will discuss with us why or why not they agree. This week many of our patients have been the same, we have a lot of ear infections and sinus infections. We test a lot for COVID and the flu. Not many of those come back positive. One patient from this week stands out from the rest. We had a 14-year-old female come in with Turner’s syndrome. She was there for a sinus infection, but it was interesting to meet someone with Turner’s syndrome. My patient JB was normotensive and in no apparent distress. Her blood pressure was 110/68, HR 76, RR 16, SpO2 99%. She was complaining of congestion, ear pressure, and sore throat. Upon exam, I could see thick yellow postnasal drainage down the back of her throat. Her turbinates were erythematous and edematous. The maxillary sinuses were tender upon palpation. She has been prescribed Augmentin for a sinus infection.

Turner syndrome is a chromosomal condition that only affects women. It causes a variety of symptoms in girls and women. There are varying degrees of manifestation with Turner’s syndrome. In general, women with Turner syndrome have female sex characteristics, but these characteristics are underdeveloped compared to the typical female.

The most well-known features of Turner syndrome include short stature, a shortened neck with a webbed appearance, a low hairline at the back of the neck, and low-set ears.

Girls with Turner syndrome grow more slowly than other children and tend to be shorter than average. The difference in growth becomes apparent around age five. Most girls with Turner syndrome are missing their ovaries or their ovaries do not function properly. At first, their ovaries develop normally but the eggs die, and the ovarian tissue disintegrates and disappears before birth. Without the estrogen made by their ovaries, girls with Turner syndrome will not develop breasts or start puberty. They will need hormone therapy to assist in the development of sex organs. Most women with Turner syndrome cannot become pregnant without assistive technology (U.S. National Library of Medicine, 2020).

Turner syndrome can cause problems with other systems besides the reproductive system. There are problems with their heart or major blood vessels such as the coarctation of the aorta. They generally have kidney problems, swelling of hands and feet, and are at higher risk for type 2 diabetes, osteoporosis, and thyroid issues (U.S. Department of Health and Human Services, 2016).

Even though my patient was not seeking treatment for a complication due to Turner’s syndrome, it was interesting to complete a physical exam on her and note the signs of the syndrome. She was 4’8, her neck was short, and her shoulders appeared wider than normal. Her extremities were in proportion, and she had FROM. I did not notice puffiness of the hands or feet, however, in some resources that I’ve read, that is mainly a symptom in babies. She denied kidney or heart problems and stated that with hormone therapy and new medications she should have a normal life expectancy.

References

U.S. Department of Health and Human Services. (2016, December 1). What are the symptoms of Turner syndrome? Eunice Kennedy Shriver National Institute of Child Health and Human Development. Retrieved November 14, 2021, from https://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms.

U.S. National Library of Medicine. (2020, September 8). Turner Syndrome: Medlineplus Genetics. MedlinePlus. Retrieved November 14, 2021, from https://medlineplus.gov/genetics/condition/turner-syndrome/.

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