American Journal of Medical Genetics · 1996 · 35 citations · 35 references
MedicineEndocrinologyPhysiologyEndocrine GeneticsHormone BiochemistryPediatric EndocrinologyCongenital Endocrine DisordersDiabetes MellitusEndocrine Metabolic DisordersInborn Errors Of MetabolismLipid MetabolismMetabolic SyndromeAnti-müllerian Hormone AssessmentCongenital Insulin Receptor DefectsCongenital Metabolic DisordersCongenital Metabolic EndocrinopathiesHormone-sensitive LipaseInsulin ActionPersistent Müllerian Duct SyndromeVitamin D-resistant Rickets
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.
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