Question:medium
A mother brings her daughter who has short stature and webbing of the neck, among other features. What will an ultrasound examination show?
A mother brings her daughter who has short stature and webbing of the neck, among other features. What will an ultrasound examination show?
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Think of the gonadal pathology that results from the chromosomal anomaly causing short stature and neck webbing in females.
Updated On: Jun 23, 2026
- Hepatomegaly with altered echotexture
- Single kidney
- Echo showing tricuspid stenosis
- Streak ovaries with small uterus
Show Solution
The Correct Option is D
Solution and Explanation
Diagnosis: Turner Syndrome -- USG shows streak ovaries with small uterus
The features of short stature + webbing of neck in a female are hallmarks of Turner Syndrome (45,XO).
Pathophysiology of gonadal failure in Turner syndrome:
- Caused by complete or partial absence of one X chromosome
- The ovaries initially form but the egg cells undergo accelerated atresia before birth
- By puberty, ovaries are replaced by fibrous streaks (streak gonads) with no functional follicles
- Absence of oestrogen leads to failure of pubertal development and primary amenorrhoea
- The uterus and fallopian tubes are present but remain small and underdeveloped
USG findings:
- Streak ovaries: thin, echogenic fibrous bands in the adnexa
- Small uterus (prepubertal size even in adolescence)
Other features of Turner syndrome:
- Cardiac: bicuspid aortic valve (most common), coarctation of aorta
- Renal: horseshoe kidney
- Lymphoedema at birth
- Shield chest, wide carrying angle
Management: Oestrogen replacement for feminisation; growth hormone for short stature
\[\boxed{\text{Streak ovaries with small uterus}}\]
The features of short stature + webbing of neck in a female are hallmarks of Turner Syndrome (45,XO).
Pathophysiology of gonadal failure in Turner syndrome:
- Caused by complete or partial absence of one X chromosome
- The ovaries initially form but the egg cells undergo accelerated atresia before birth
- By puberty, ovaries are replaced by fibrous streaks (streak gonads) with no functional follicles
- Absence of oestrogen leads to failure of pubertal development and primary amenorrhoea
- The uterus and fallopian tubes are present but remain small and underdeveloped
USG findings:
- Streak ovaries: thin, echogenic fibrous bands in the adnexa
- Small uterus (prepubertal size even in adolescence)
Other features of Turner syndrome:
- Cardiac: bicuspid aortic valve (most common), coarctation of aorta
- Renal: horseshoe kidney
- Lymphoedema at birth
- Shield chest, wide carrying angle
Management: Oestrogen replacement for feminisation; growth hormone for short stature
\[\boxed{\text{Streak ovaries with small uterus}}\]
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