Turner syndrome and autosomal dominant polycystic kidney disease

Abstract

Turner syndrome is a chromosomal disorder that involves multiple organ systems and is typically associated with short stature. A multidisciplinary approach with regular screening and surveillance is key to managing this condition's multiple comorbidities. We present a case of a young girl with Turner syndrome and associated short stature on growth hormone treatment who presented with cystic renal disease found to be autosomal dominant kidney disease. We propose reevaluation of renal screening guidelines in this population due to the potential association of growth hormone and cyst proliferation.

Keywords: Growth hormone; PKD1 mutation; Turner syndrome; polycystic kidney disease.

Figure 1.

Longitudinal and transverse images of the (a) left kidney, showing a septated cyst (Bosniak II) in the left lower pole (calipers), and (b) right kidney, showing a cyst with a thin septation (Bosniak II) in the right lower pole (calipers).