SYNDROME OF LIPOATROPHIC DIABETES, VITAMIN-D-RESISTANT RICKETS, AND PERSISTENT MULLERIAN DUCTS IN A TURKISH BOY BORN TO CONSANGUINEOUS PARENTS

Congenital lipodystrophy (MIM 269700), persistent Mullerian ducts (MIM 261550), and vitamin D resistant rickets (MIM 277440) were observed i n an 8 1/2-year-old boy born to consanguineous parents, Measurements o f hormone sensitive lipase activity from a sample of the suprapubic fa t depot were normal. Although the insulin receptor appeared normal (in cluding autophosphorylation), insulin action, assessed by induction of total mRNA, was decreased. The vitamin D receptor was normal in size and amount, with a slight decrease in affinity for 1,25(OH)(2)D-3. Ind uction of 24-hydroxylase, used as a measure of responsiveness to 1,25( OH)(2)D-3, was only mildly defective, Assessment of anti-Mullerian hor mone (AMH) failed to show any abnormalities explaining the persistent Mullerian ducts, We speculate that a defect in general hormone action common to 1,25(OH)(2)D-3, insulin, and AMH may exist in this patient a lthough we can not exclude the unlikely possibility that he is homozyg ous for two or three individually rare mutations. (C) 1996 Wiley-Liss, Inc.