Ovarian Dysgenesis, Hypergonadotropic, With Short Stature And Recurrent Metabolic Acidosis

Hisama et al. (2001) reported 2 sisters with hypergonadotropic hypogonadism, marked short stature, and recurrent episodes of dehydration with metabolic acidosis. Both patients had normal intelligence and normal 46,XX karyotypes. Laboratory studies suggested mitochondrial dysfunction; however, results of mitochondrial DNA studies and of biochemical analysis of electron transport chain activity in skeletal muscle were normal. The authors suggested that these findings represent a new syndrome.