RESUMEN
Frequency of the congenital growth hormone [CH] deficiency is estimated to /4000 - 1/10.000 births. Its pathogenesis is multiple. We report 13 cases of congenital GH deficiency. Three cases [3 boys] are secondary to stalk interruption and GH deficiency is associated to ACTH deficiency in 2 cases and to gonadotropin deficiency in 2 cases but no patient has diabetes insipidus. shows a pituitary stalk interruption, an anterior pituitary hypoplasia and posterior pituitary ectopia. The causes of stalk interruption remain not clear. For the 10 other patients with congenital GH deficiency, genetic origin is suggested because of the clinical and biological presentation and by the normal MRI. GH deficiency is isolated in 5 cases in 10. We review the main mutations involved in GH deficiency [Prop-1, Pit-1, Lhx3 and Lhx4 genes]