Abstract for presentation at 11th International Congress of Human Genetics

Two Sisters with IMAGe Syndrome: Cytomegalic Adrenal Histopathology and Support for Autosomal Recessive Inheritance

  • Tiong Yang Tan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Larry Jameson, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago USA, United States
  • Peter Campbell, Victorian Institute of Forensic Medicine and Monash University, Melbourne, Australia, Australia
  • Paul Ekert, Department of Neonatology, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Margaret Zacharin, Department of Endocrinology, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Robin Forbes, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Ravi Savarirayan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia

    • Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM#300200) and autosomal recessive (OMIM#240200) forms are recognized. Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita and Genital abnormalities (IMAGe syndrome; OMIM#300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, adrenal hypoplasia congenita and dysmorphic features. Unusual histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the diagnosis in these siblings and that autosomal recessive inheritance is likely. The results of molecular genetic analysis of the SF1, DAX1 and STAR genes are presented. Other cases of IMAGe syndrome are reviewed.

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