An 18 year old white female presented with short stature and amenorrhoea. Her height was 135 cm, weight 46.6 kg; she had a broad neck, a high arched palate, short fifth metacarpals bilaterally, short third, fourth and fifth metatarsals bilaterally and minimal breast development. Although the clinical picture strongly suggested Turner's syndrome, investigations revealed: (a) normal female 46,XX chromosomal pattern on analyses of skin, lymphocytes and ovarian tissue; (b) undetectable serum growth hormone levels; (c) pre-pubertal oestradiol-17 beta levels; (d) only very occasional primordial follicles on ovarian biopsy with a thickened capsule; and (e) basal LH and FSH levels of 6.8 to 9.6 mIU/ml which rose after LRH injection to 90 and 26 mIU/ml, respectively. The patient has the unusual combination of growth hormone deficiency, gonadal dysgenesis and Turner stigmata with a normal chromosomal complement.