ENDOCRINOLOGIC INVESTIGATIONS IN DELETIONS OF CHROMOSOME-18

Patients suffering from deletions of chromosome 18 (p-, q-) show regulary short stature. Endocrinological investigations were performed to prove if short stature is due to pituitary insufficiency. In three female patients with deletions of chromosome 18 and retarded bone age serum growth hormone was investigated after insulin induced hypoglycemia, after glucagon-propronaolol and after stimulation with growth homone releasing hormone. Thyreoid function, gonadal funktion and adrenal function were investigated too. All three patients showed growth hormone deficiency. In one patient there were found in addition hypothyroidism and gonadotrophine deficiency as well. In conlusion growth failure in some patients with deletions of chromosome 18 seems to due to pituitary insufficiency. In these patients treatment with recombinant growth hormone may increase growth velocity.