A seven-year-old female is being evaluated in the pediatric clinic for short stature. Her medical records reveal that she was small at birth. When she was approximately two years of age, her parents noticed that she was not growing as much as her peers. Her height and weight are below the 5th percentile on the normal growth chart. Her projected height is more than 2 standard deviations below her mid-parental height. She has short fourth metacarpal bones bilaterally and multiple nuchal folds. Her carrying angles in the upper extremities are increased. A diagnosis of Turner syndrome is suspected. Karyotyping is performed and the result is 45, XO. At this time, which of the following is necessary in the management of this patient?

Question

A seven-year-old female is being evaluated in the pediatric clinic for short stature.  Her medical records reveal that she was small at birth.  When she was approximately two years of age, her parents noticed that she was not growing as much as her peers.  Her height and weight are below the 5th percentile on the normal growth chart.  Her projected height is more than 2 standard deviations below her mid-parental height.  She has short fourth metacarpal bones bilaterally and multiple nuchal folds.  Her carrying angles in the upper extremities are increased.  A diagnosis of Turner syndrome is suspected.  Karyotyping is performed and the result is 45, XO.  At this time, which of the following is necessary in the management of this patient?

Quizplus · Accepted Answer

Explanation: The patient has classic Turner syndrome with 45,XO karyotype. This disease is characterized by short stature and hypogonadism. All patients who are initially diagnosed must be screened for the presence of other associated somatic abnormalities. The most important of these are the cardiac defects, which include coarctation of the aorta, bicuspid aortic valve, mitral valve prolapse, and hypoplastic heart. Since some of these defects cannot be picked up by clinical examination, an echocardiogram is necessary. The other associated defects are: visual and hearing deficits, kidney malformation (including horseshoe shaped kidney), and an increased predisposition for autoimmune endocrinopathy (especially primary hypothyroidism); therefore, in addition to an echocardiogram, all patients initially diagnosed with Turner syndrome require visual and hearing assessment, renal ultrasound, and TSH level measurement. (Choice B) Streak gonads in Turner's syndrome increase the patient's chances for malignancy when there is an associated mosaicism with a Y chromosome. In this case, there is no evidence of Y chromosome mosaicism; therefore, removal of the streak gonads is not necessary. (Choice C)Patients with Turner syndrome develop moderate to severe insulin resistance and diabetes when they are older. Blood sugar screening is performed based on the patient's clinical manifestations. Since this patient is very young and has no suggestive manifestations, screening for diabetes mellitus is not required at this time. (Choice D)Patients with Turner syndrome have hypogonadism, and eventually require estrogen replacement; however, if estrogen therapy is given at an early age, there may be premature fusion of the epiphysis, which will potentially decrease the patient's final height. Most physicians begin prescribing hormone replacement therapy when the patient reaches 14 years of age. Growth hormone is approved for use in patients with Turner's syndrome to improve their final height. (Choice E)Majority of patients with Turner's syndrome does not have significant pulmonary abnormalities. Pulmonary function tests are not required unless clinically indicated. Educational Objective: In addition to short stature and hypogonadism, patients with Turner syndrome may have several other somatic abnormalities, such as cardiac defects, visual impairment, hearing disability, hypothyroidism, and kidney malformations. Screening for these disorders is necessary at the time of diagnosis.

A Seven-Year-Old Female Is Being Evaluated in the Pediatric Clinic for Short