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Gynaecology & Obstetrics General 0a291e0d

10 year old girl with primary amenorrhoea, wide-spaced nipples, streak-like gonads. The most likely diagnosis:

A
MRKH syndrome
B
Turner's syndrome
C
Swyer syndrome
D
Mixed gonadal dysgenesis
High-Yield Explanation
Turner Syndrome: 45,X Gonadal Dysgenesis: The cardinal features of 45,X gonadal dysgenesis are a variety of somatic anomalies, sexual infantilism at pubey secondary to gonadal dysgenesis, and sho stature. Typical manifestations of Turner's syndrome in adulthood include sho stature, hypogonadism, primary amenorrhoea, webbed neck, high-arched palate, wide-spaced nipples, hypeension, and renal abnormalities. Emotional disorders are common. Ref: Conte F.A., Grumbach M.M. (2011). Chapter 14. Disorders of Sex Determination and Differentiation. In D.G. Gardner, D. Shoback (Eds), Greenspan's Basic & Clinical Endocrinology, 9e.

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