A 16-year-old girl is brought in for evaluation. See picture:
She has short stature, no sexual development, no pubic hair, no breast development.
What is the most appropriate test to reach the diagnosis?
Correct Answer A:
This is a classic presentation for Turner syndrome. In Turner syndrome (gonadal dysgenesis), girls are born with one of the two X chromosomes partially or completely missing. A karyotype will reveal her chromosome profile to be 45,X.
Girls with Turner syndrome have a webbed neck, a low hairline at the back of the neck, a broad chest with wide-spaced nipples, and poorly developed nails.
As a girl with Turner syndrome gets older, she has no menstrual periods (amenorrhea), and the breasts, vagina, and labia remain childlike rather than undergoing the changes of puberty. A girl or woman with Turner syndrome is virtually always short; obesity is common.
All of the following are associated with Turner syndrome, except:
Correct Answer D:
In Turner syndrome (gonadal dysgenesis), girls are born with one of the two X chromosomes partially or completely missing.
Many newborns with Turner syndrome have swelling (lymphedema) on the backs of their hands and tops of their feet. Swelling or loose folds of skin are often evident over the back of the neck. Many other abnormalities often develop, including a webbed neck, a low hairline at the back of the neck, a broad chest with wide-spaced nipples, and poorly developed nails.
As a girl with Turner syndrome gets older, she has no menstrual periods (amenorrhea), and the breasts, vagina, and labia remain childlike rather than undergoing the changes of puberty. The ovaries usually do not contain developing eggs. A girl or woman with Turner syndrome is virtually always short; obesity is common.
Other disorders often develop. Heart defects include narrowing of part of the aorta (coarctation of the aorta). Kidney and eye defects, diabetes mellitus, and thyroid diseases are common.
All of the following are appropriate steps in managing the patients in following figures, except:
This patient has Turner’s syndrome, which is not typically associated with central nervous system malformations or mental retardation, although they may have some mild learning disabilities. Lymphedema of the hands and feet at birth is common in Turner’s syndrome. Cystic hygroma is very common in Turner’s and may lead to hydrops fetalis and death in utero. When it resolves, webbing of the neck skin may be seen.
A. Congenital heart disease occurs in 20% of patients with Turner’s syndrome, most commonly coarctation of the aorta, aortic stenosis, and bicuspid aortic valve.
B. Renal anomalies are seen in 40% of patients with Turner’s syndrome, most commonly horseshoe kidney.
C. Turner’s syndrome is diagnosed by chromosome analysis. The most common karyotype is 45,X (60%), X chromosome abnormalities account for another 25% of cases, and 15% of patients have a mosaic karyotype, which may include a Y chromosome cell line.
E. Short stature and gonadal dysgenesis are typical in Turner’s syndrome. Growth hormone therapy is standard of care to improve height and oral estrogen/progesterone are used to induce secondary sexual characteristics, although most patients are sterile.
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