Atypical Presentation and Novel StAR Protein Gene Mutation in a 46,XY Female with Lipoid Congenital Adrenal Hyperplasia

Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

Congenital lipoid adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis and is the most severe form of congenital adrenal hyperplasia. It is an autosomal recessive disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The StAR protein facilitates the entry of cholesterol into the mitochondria. When this protein is defective, cholesterol cannot be converted to pregnenolone, and hence steroidogenesis cannot be initiated. Eventually all adrenal and gonadal steroidogenesis is destroyed. Patients usually present with adrenal salt-wasting crisis in the first 2 months of life. Those with a 46,XY karyotype have complete sex reversal; however, the phenotype can be variable. Adrenal insufficiency has been reported to occur later in life and patients can have partially virilized or even normal male genitalia. We report an atypical female patient with a 46,XY karyotype, who had mild genital virilization and presented with adrenal crisis at 6 months of age. She carries a previously unreported StAR protein gene mutation.

Keywords

Cholesterol Cortisol Syria Testosterone Turkey 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Adrenal Steroid Disorders Program, Division of Pediatric EndocrinologyMount Sinai School of MedicineNew YorkUSA
  2. 2.Endocrinologie Moléculaire et Maladies RaresCBPELyon-BronFrance
  3. 3.Service de Biochimie Endocrinienne et MoleculaireHospices Civils de Lyon, Hopital DebrousseLyonFrance
  4. 4.Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Department of PediatricsMount Sinai School of MedicineNew YorkUSA

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