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.
A 15-year-old female is brought to the hospital by her mother because she has never had menstrual periods and the mother is concerned. On physical examination the girl appears short, has a webbed neck. Four-limb blood pressures were also evaluated: higher blood pressures were noted in the arms while the ones of the lower extremities were normal.
Which of the following is the best way to confirm this girl’s diagnosis?
Correct Answer C:
This girl has primary amenorrhea, a webbed neck, and a significant difference between the blood pressure in the upper and lower extremities (suggesting possible coarctation of the aorta). These findings suggest Turner syndrome as the most likely diagnosis. The best way to confirm this diagnosis is a standard 30 cell Karyotype, which in Turner syndrome would reveal 45, XO cell line or a cell line with deletion of the short arm of the X chromosome.
→ An echocardiography (choice A) is useful in evaluating cardiovascular abnormalities of Turner syndrome such as the coarctation of the aorta; while this is an important characteristic of Turner syndrome, it is not the best way to confirm it.
→ FSH, LH, and Estrogen (choice B) are likely to be abnormal in this patient. With estrogen being low while FSH and LH are elevated; this, however, is not the best way to confirm Turner syndrome.
→ Brain MRI (choice D) would be useful in cases of amenorrhea caused by pituitary pathology such as craniopharyngioma, it is not the best way to confirm Turner syndrome.
→ Bone age assessment (choice E) will be useful in the management of this patient as hormone therapy is being considered; however, this is not the best way to confirm Turner syndrome.
Key point:
What is the condition most commonly mistaken for appendicitis in children?
Mesenteric lymphadenitis is an inflammation of the lymph nodes on the wall of the mesentery (the covering of the intestines). It is often a childhood illness, though occasionally seen in adults. It is a very common cause of abdominal pain in children, mimicking appendicitis, and often difficult to differentiate from appendicitis. It is estimated that 1 in 5 children diagnosed with appendicitis actually have mesenteric lymphadenitis.
The main symptom is abdominal pain. This is often located in the right lower abdomen or right iliac fossa. It is a colicky abdominal pain which just resolves momentarily without any intervention. The sufferer, usually a child, may be completely pain free between attacks. Characteristically, the pain moves from one spot to the other on the abdomen, in keeping with the movement of the bowel loops in the abdominal cavity.
Asking the child to turn to the left side will demonstrate this shift as the area of pain and tenderness will move along with the bowel to the left.
In appendicitis, the pain may initially start around the umbilicus, then moves over to the right iliac fossa. Once it settles there, it does not move around any longer.
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