Clinical features

All girls with Turner's syndrome grow slowly, the pubertal growth spurt failing to occur and adult height usually between 1.25 and 1.5 metres; average 1.42 metres.

A wide range of somatic features are reported but are present with varying frequency. The most common are:

• webbed neck
• broad shield chest with widely spaced nipples
• cubitus valgus
• short fourth metacarpal
• lymphoedema of the extremities in the neonate - particularly the feet
• low set ears in up to 80%
• low hairline
• hypoplastic nails
• hypertension, which may be idiopathic or may be secondary to coarctation of the aorta

At puberty many are overweight with normal I.Q. - on average 95 - but no secondary sexual characteristics. The internal genitalia remain small - characteristic 'streak' gonads behind the broad ligament, in the usual position of the ovary, consisting of fibrous tissue and devoid of germ cells. The external genitalia and breasts remain infantile and they have primary amenorrhoea.