Question

A mother brings her daughter who has short stature and webbing of the neck, among other features. What will an ultrasound examination show?

• A. Hepatomegaly with altered echotexture
• B. Single kidney
• C. Echo showing tricuspid stenosis
• D. Streak ovaries with small uterus

Hint:

Think of the gonadal pathology that results from the chromosomal anomaly causing short stature and neck webbing in females.

Answer 1

The Correct Option is D

Step 1: Identify the syndrome from the clinical features.
Short stature combined with webbing of the neck (pterygium colli) in a female patient is the classic presentation of Turner syndrome (45,X or 45,XO karyotype). Other features of Turner syndrome include: shield chest, wide carrying angle (cubitus valgus), primary amenorrhoea, absent secondary sexual characteristics, low posterior hairline, and lymphoedema of hands and feet at birth (Bonnevie-Ullrich syndrome in neonates).

Step 2: Recall the gonadal pathology in Turner syndrome.
In Turner syndrome, the ovaries fail to develop normally. The egg cells die prematurely before birth and the ovarian tissue degenerates into fibrous tissue -- called streak ovaries (gonadal dysgenesis). The uterus, fallopian tubes, and vagina are usually present but underdeveloped (small uterus) due to the absence of ovarian oestrogen stimulation.

Step 3: USG findings in Turner syndrome.
Ultrasound will show: streak ovaries (thin, fibrotic bands replacing normal ovarian tissue) and a small, underdeveloped uterus. This leads to primary amenorrhoea and infertility.

Step 4: Other associated findings.
Cardiac anomalies (bicuspid aortic valve, coarctation of aorta) and renal anomalies (horseshoe kidney) are associated but less commonly detected on USG in this context.

Conclusion: USG will show streak ovaries with a small uterus.