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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Familial Glucocorticoid Deficiency Type 2 in Two Neonates

Journal of Perinatology volume 23, pages 62–66 (2003)Cite this article

Abstract

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by glucocorticoid deficiency, elevated plasma adrenocorticotropic hormone (ACTH) levels and preserved aldosterone/renin secretion. Adrenocorticotropic receptor mutations occur in about 40% of patients (FGD type 1), whereas the rest of the cases are associated with a normal receptor (FGD type 2). More than 50 cases have been reported in the literature so far. We report two cases of type 2 FGD from two related families who presented in the newborn period with varying clinical features. Direct sequencing of the genomic DNA of the patients failed to reveal mutations or other defects in the coding sequence of the ACTH receptor. Linkage analysis excluded mutations on the MC2-R gene outside the coding region. To our knowledge, these are the first two cases of FGD reported from the Middle East.

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Authors and Affiliations

  1. Department of Neonatal Medicine and Surgery, Mafraq Hospital, Abu Dhabi, United Arab Emirates

    Pallath Ramachandran MD, MRCP & Mohamad Reza Sedaghatian MD, FAAP

  2. INSERM-INRA U418, Hospital Debrousse, Lyon, France

    Armelle Penhoat PhD, Danielle Naville PhD & Martine Begeot PhD

  3. Department of Laboratory and Medical Research, Mafraq Hospital, Abu Dhabi, United Arab Emirates

    Laila Osama Abdel-Wareth FRCPC

Authors
  1. Pallath Ramachandran MD, MRCP
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  2. Armelle Penhoat PhD
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  3. Danielle Naville PhD
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  4. Martine Begeot PhD
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  5. Laila Osama Abdel-Wareth FRCPC
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  6. Mohamad Reza Sedaghatian MD, FAAP
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Ramachandran, P., Penhoat, A., Naville, D. et al. Familial Glucocorticoid Deficiency Type 2 in Two Neonates. J Perinatol 23, 62–66 (2003). https://doi.org/10.1038/sj.jp.7210813

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