ABSTRACT
This patient has Turner’s syndrome, characterised by short stature and primary amenorrhoea due to loss of part or all of an X chromosome. Other features include a broad square-shaped chest, widely spaced nipples, a webbed neck, a high palate and short fourth metacarpals. Most affected females have no pubertal development and primary amenorrhoea. There are some who develop normally and have secondary amenorrhoea. Patients with Turner’s syndrome may have other complications such as renal anomalies, cardiovascular disease/abnormalities (coarctation of the aorta, aortic valvular disease, aortic dissection, hypertension), osteoporosis, ocular abnormalities and hypothyroidism. Karyotype analysis is used to analyse the chromosomal composition of the individual, which would reveal an abnormal or missing X chromosome in these females (45XO).
