Case history
Case history #1
A 13-year-old girl is brought to a paediatrician by her mother, who is concerned about short stature and the lack of any signs of pubertal development. Her 11-year-old sister is 10 cm taller and has already had breast development. Parents are average in height with puberty at the age of 12 or 13 years. Past medical history is significant for frequent otitis media. Physical examination reveals a short girl of 135 cm (<1st percentile), weight of 55 kg with mild hypertension (130/80 mm Hg), and pubertal stage of Tanner I for breast development and Tanner II for pubic hair development. The remainder of the examination is normal apart from multiple melanocytic naevi on the face and arms, as well as a high-arched palate. A bone age x-ray of the wrist was consistent with an age of 11.5 years.
Case history #2
A newborn girl has generalised oedema, webbing of the neck, severe upper body hypertension, and left ventricular failure.
Other presentations
Short stature may sometimes be overlooked in girls from relatively tall families. About 16% of girls with Turner syndrome have spontaneous puberty (with normal menses and potential fertility) but have premature menopause. In one study, 37% of those with spontaneous menses continued to have menses for 9.2 ± 5 years.[7] Examination may then reveal short stature for her genetic potential.
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