Leydig Cell Hypoplasia due to Inactivating Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Mutation Presenting as a 46,XY DSD

  • Sunil K. Sinha
  • Amrit Bhangoo
  • Svetlana TenEmail author
  • Joerg Gromoll
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


Leydig cell hypoplasia (LCH) due to inactivating mutations of luteinizing hormone receptor gene (LHCGR) is a relatively rare form of 46,XY disorder of sex development (DSD). LCH is inherited in an autosomal recessive manner, which leads to aberration of Leydig cell differentiation and ultimately subnormal androgen production both pre- and postnatally. In males, two distinct phenotypes have been described in the literature depending on the degree of remaining activity of LHCGR. Leydig cell hypoplasia type 1 (LCH type 1) represents more severe form with 46,XY DSD while Leydig cell hypoplasia type 2 (LCH type 2) is more diverse with micropenis to several degrees of undervirilization. We identified one kindred with 27-bp insertion in exon 1 causing 46,XY DSD.


ACTH Stimulation Test Signal Peptide Cleavage Site Autosomal Recessive Manner Luteinizing Hormone Receptor Gene Leydig Cell Differentiation 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Sunil K. Sinha
    • 1
  • Amrit Bhangoo
    • 2
  • Svetlana Ten
    • 2
    Email author
  • Joerg Gromoll
    • 3
  1. 1.Division of Pediatric Endocrinology, Department of Paediatric EndocrinologyMaimonides Medical Centre, State University of New York Downstate Children’s Hospital & Infant’s and Children Hospital of Brooklyn at MaimonidesBrooklynUSA
  2. 2.Department of Paediatric EndocrinologyState University of New York Downstate Children’s Hospital & Infant’s and Children Hospital of Brooklyn at MaimonidesBrooklynUSA
  3. 3.Institute of Reproductive Medicine, University of MuensterMünsterGermany

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