Isolated growth hormone deficiency, ovarian dysgenesis and Turner stigmata with normal chromosomal complement.

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.