Case report: familial growth hormone deficiency associated with Bartter's syndrome

Two children, a brother and a sister with growth retardation, and their short adult female sibling presented with isolated growth hormone deficiency. In addition, they had hypokalemic alkalosis and overactive renin-angiotensin-aldosterone system. The mother of these three individuals has short stature plus growth hormone deficiency. Other members of the pedigree have average stature. All the patients are normotensive. In addition to potassium and magnesium administration, the children were treated with growth hormone for more than 12 months. The growth velocity more than doubled during the therapy period. The association between Bartter's syndrome and isolated familial growth hormone deficiency is of interest because of the combination of these two rare conditions. To our knowledge, there are no published growth hormone studies on Bartter's syndrome, which is also characterized by short stature.