Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.
Congenital lipodystrophy (MIM 269700), persistent Müllerian ducts (MIM 261550), and vitamin D resistant rickets (MIM 277440) were observed in an 8 1/2-year-old boy born to consanguineous parents. Measurements of hormone sensitive lipase activity from a sample of the suprapubic fat depot were normal. Although the insulin receptor appeared normal (including 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)2D3. Induction of 24-hydroxylase, used as a measure of responsiveness to 1,25(OH)2D3, was only mildly defective. Assessment of anti-Müllerian hormone (AMH) failed to show any abnormalities explaining the persistent Müllerian ducts. We speculate that a defect in general hormone action common to 1,25(OH)2D3, insulin, and AMH may exist in this patient although we can not exclude the unlikely possibility that he is homozygous for two or three individually rare mutations.
Van Maldergem
L
L
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium.
Bachy
A
A
Feldman
D
D
Bouillon
R
R
Maassen
J
J
Dreyer
M
M
Rey
R
R
Holm
C
C
Gillerot
Y
Y
D000328:Adult; D054304:Anti-Mullerian Hormone; D002478:Cells, Cultured; D003241:Consanguinity; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D003923:Diabetes Mellitus, Lipoatrophic; D012734:Disorders of Sex Development; D005260:Female; D005347:Fibroblasts / Q000737:chemistry; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000032:analysis; D006801:Humans; D007015:Hypophosphatemia, Familial; D007231:Infant, Newborn; D007328:Insulin / Q000378:metabolism / Q000494:pharmacology; D007334:Insulin-Like Growth Factor I / Q000494:pharmacology; D008297:Male; D009095:Mullerian Ducts; D010766:Phosphorylation; D012333:RNA, Messenger / Q000032:analysis; D011972:Receptor, Insulin / Q000378:metabolism; D018167:Receptors, Calcitriol / Q000032:analysis; D013250:Steroid Hydroxylases / Q000235:genetics; D002787:Sterol Esterase / Q000378:metabolism; D013577:Syndrome; D013735:Testicular Hormones / Q000032:analysis; D014421:Turkey; D065668:Vitamin D3 24-Hydroxylase
D006023:Glycoproteins; D006131:Growth Inhibitors; D007328:Insulin; D012333:RNA, Messenger; D018167:Receptors, Calcitriol; D013735:Testicular Hormones; D007334:Insulin-Like Growth Factor I; D054304:Anti-Mullerian Hormone; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; D065668:Vitamin D3 24-Hydroxylase; D011972:Receptor, Insulin; D002787:Sterol Esterase