Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome

Hormones (Athens). 2019 Mar;18(1):103-105. doi: 10.1007/s42000-018-0061-1. Epub 2018 Sep 25.

Abstract

Isolated GnRH Deficiency (IGD) that is either displayed as Kallmann Syndrome (KS) or normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is a rare Mendelian disorder with wide clinical and genetic variability. Apart from the arrest of pubertal development, IGD is also characterized by a variety of non- reproductive features including unilateral renal agenesis (URA), midline defects, dental & ocular defects and many more. In this analysis we explored the role of unilateral renal agenesis, as a screening tool for detection of genetic changes associated with IGD. We performed detailed genetic screening with Sanger sequencing in 14 genes associated with Isolated GnRH Deficiency as well as screening of intragenic deletions in the gene of anosmin 1-ANOS1 with MLPA. No genetic variation was detected, suggestive of an alternative genetic cause for URA in these normosmic patients, highlighting the necessity of further genetic screening.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Biomarkers
  • Child
  • Child, Preschool
  • Genetic Testing
  • Gonadotropin-Releasing Hormone / deficiency*
  • Humans
  • Kallmann Syndrome / diagnosis*
  • Kallmann Syndrome / genetics
  • Male
  • Puberty
  • Solitary Kidney / diagnosis*
  • Solitary Kidney / genetics

Substances

  • Biomarkers
  • Gonadotropin-Releasing Hormone