A case of congenital hypopituitarism associated with a 1p31 microdeletion: A possible role for LEPR and JAK1

Mili Thakur, Doris Taha, Vinod K. Misra

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Context: Genetic defects affecting the expression and function of factors involved in pituitary development have been found to be associated with congenital hypopituitarism (CH). However, for most cases of CH, the etiology remains unknown. Case Description: We present an unusual case of an infant with CH, associated with septo-optic dysplasia with an absent anterior pituitary and an ectopic posterior pituitary gland, resulting from a de novo 8.04-Mb interstitial deletion of chromosome 1p31.1-1p31.3. The deleted region includes several genes that might be involved in pituitary development, including LEPR and JAK1. Conclusions: Haploinsufficiency of LEPR and/or JAK1 might be associated with CH. This finding suggests a role for LEPR-mediated glycoprotein 130 signaling in human pituitary development.

Original languageEnglish
Pages (from-to)278-282
Number of pages5
JournalJournal of the Endocrine Society
Volume1
Issue number4
DOIs
StatePublished - Apr 2017

Keywords

  • Chromosome 1p31
  • Congenital hypopituitarism
  • JAK1 gene
  • LEPR gene
  • Leptin
  • Microdeletion

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