Pediatric Primary Care Case Studies (136 page)

-   A pediatric endocrinologist for growth hormone and estrogen therapy to increase her height and then to induce puberty at the appropriate time

-   A pediatric cardiologist for evaluation and monitoring of her cardiac status

-   A pediatric genetics clinic for further discussion of Turner syndrome and its influences on Jane and the family

   Evaluations to assess needs for care:

-   By an audiologist for hearing loss

-   By an ophthalmologist

-   By an orthodontist

-   An educational evaluation by her school’s personnel

You also describe the current national guidelines for them and begin the screening and on-going monitoring protocol for Turner syndrome (Bondy, 2007). Thus, you also order T
₄
and thyroid stimulating hormone (TSH) tests for thyroid function, celiac screen (TTG-Ab), liver function tests, fasting blood sugar, lipids, CBC, and creatinine and BUN for kidney functioning.

You also give the family the Web site for the Turner Syndrome Society of the United States with the suggestion that meeting other girls who also have Turner syndrome might be very helpful to Jane, and meeting their parents would be helpful to Mr. and Mrs. Murphy.

You consider whether Jane would benefit from some counseling regarding her self-esteem and feelings about being teased due to her size. You decide to wait on this given the number of other evaluations scheduled. Perhaps with more information, the initiation of growth hormone therapy, and meeting some other girls with the condition, Jane will begin to feel better about herself, but you note that this issue needs monitoring both short-term and long-term.

When do you want to see this family back again?

You schedule the family to return to the clinic after the evaluations have occurred to review Jane’s overall health status and to see how various therapy programs are evolving.

The family returns in 3 months, having been to the endocrinologist, cardiologist, urologist, ophthalmologist, audiologist, genetics clinic, and orthodontist. She also has an educational evaluation scheduled in the next few weeks. The endocrinologist has started her on growth hormone treatment, which has been accepted positively by Jane. The cardiologist identified a bicuspid aortic valve but does not want to do anything at this time to repair it. Her blood pressure is normal. The urologist was surprised to learn that Jane has Turner syndrome and will follow her regularly, but did not find significant urological problems at this time. Her hearing and vision are normal so she will return for annual evaluations. The geneticist provided them with more information about Turner syndrome, its inheritability, and the health issues they need to monitor.

Jane reports that when kids tease her, she tells them that she has Turner syndrome and is hoping that she will grow a bit faster now that she is getting treatment. Her friends are supportive. Her mother and father are beginning to accept the fact that their daughter has a genetic condition with many health issues to face as she matures, but are hopeful that with good care she can avoid significant problems. They have not yet made contact with the Turner Syndrome Society but know when the next meeting in their area is to be held and plan to attend with Jane.

You congratulate them on their progress navigating all the healthcare evaluations and assure them that you will be available at any time and will continue to oversee the various specialties’ plans to help Jane. You also alert them that positive mental health and strong self-esteem are important for Jane and suggest that they return any time they see Jane becoming stressed so appropriate mental health interventions can be instituted.

What are some other issues you need to address with the family in the future?

You will need to address the following with the Murphys:

•   Obesity is a common problem for individuals with Turner syndrome. Jane needs a healthy diet and plenty of exercise. You will monitor her weight carefully as she moves into adolescence.

•   Finding a sport that Jane can be successful in, such as dance, gymnastics, or swimming.

•   The probability that Jane will not have children or will achieve pregnancy with difficulty.

•   The long-term health problems such as diabetes and autoimmune diseases that Jane needs to be monitored for.

•   Scoliosis may emerge as an issue when she is growing more rapidly.

•   Many girls with Turner syndrome have neurocognitive problems such as visual-spatial deficits, poorer nonverbal memory, problems perceiving social situations appropriately, and attention deficits, which may yet emerge in Jane. They will need to monitor her progress in school and socially because educational help can be provided to keep her functioning at age level if such problems arise.

Not all of these can be addressed at once, but these will need to be priorities for discussion over the next several years.

Key Points from the Case

1. Young females with short stature require a variety of evaluations including a genetic evaluation for the possibility of Turner syndrome.

2. An individual diagnosed with Turner syndrome can have a variety of organs affected, and a thorough work-up is required once a diagnosis is made.

3. Future issues such as growth, reproduction, obesity, diabetes, vision, hearing, cardiovascular system, autoimmune disorders, learning, psychological, and other issues will also need to be monitored by the primary care provider.

REFERENCES

Bondy, C., for the Turner Syndrome Consensus Study Group. (2007). Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.
Journal of Clinical Endocrinology and Metabolism, 92
(1), 10–25.

Donaldson, M. D. C., Gault, E. J., Tan, K. W., & Dunger, D. B. (2006). Optimizing management in Turner syndrome: from infancy to adult transfer.
Archives of
Diseases in Children, 91
, 513–520.

Doswell, B., Visootsak, V., Brady, A., & Graham, J. M. (2006). Turner syndrome: an update and review for the primary care pediatrician.
Clinical Pediatrics, 45
, 301–313.

Frias, J. L., Davenport, M. L., Committee on Genetics, & Section on Endocrinology. (2003). Health supervision for children with Turner syndrome.
Pediatrics
,
111(3)
, 692–702.

McCauley, E., Ross, J. L., Kushner, H., & Cutler Jr., G. (1995). Self-esteem and behavior in girls with Turner syndrome.
Journal of Developmental and
Behavioral Pediatrics, 16
, 82–88.

Nielsen, J., & Wolhert, M. (1991). Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.
Human Genetics, 87
, 81–83.

Romans, S., Stefanatus, G., Roeltgen, D., Kushner, H., & Ross, J. L. (1998). Transition to young adulthood in Ullrich-Turner syndrome: neurodevelopmental changes.
American Journal of Medical Genetics, 79
, 140–147.

Ross, J., Zinn, A., & McCauley, E. (2000). Neurodevelopment and psychosocial aspects of Turner syndrome.
Mental Retardation and Developmental
Disabilities Research Reviews, 6
, 135–141.

Tsezou, A., Hadyiathanasiou, C., Gourgiotis, D., Galla, A., Kavazarakis, E., Pasparaki, A., et al. (1999). Molecular genetics of Turner syndrome: correlation to clinical phenotype and response to growth hormone.
Clinical Genetics, 56
, 441–446.

Tyler, C., & Edman, J. C. (2004). Down syndrome, Turner syndrome and Klinefelter syndrome: primary care throughout the lifespan.
Primary Care Clinics in Office
Practice, 31
, 627–648.

Index

Note: Entries followed by “b” indicate boxes; “f” figure; “t” tables
.

A

AAFP (American Academy of Family Physicians),
346
–357

AAP (American Academy of Pediatrics)

diagnostic criteria of

AOM,
351
–352

childhood obesity,
90

OME,
346
–357

recommendations of

autism screening,
27
–28,
35
,
39

bilirubin level testing,
501

fluid replacement,
397
–398

four-stage overweight approach,
95

GBS sepsis screening,
494

genetic condition treatment,
512

immunization,
504

ABA (Applied Behavior Analysis) program,
37
–38