Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

Clin Endocrinol (Oxf). 2008 Jul;69(1):153-8. doi: 10.1111/j.1365-2265.2007.03148.x. Epub 2008 Jul 1.

Abstract

Objective: To assess the sizes of intra-abdominal organs of adult subjects with untreated severe congenital isolated GH deficiency (IGHD) due to lack of functional GHRH receptor (GHRH-R), and to verify whether there is proportionality between size of organ and adult stature and body surface area (BSA).

Subjects and methods: By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy. They were all homozygous for the same null mutation (IVS1 + 1G --> A) in the GHRH receptor gene (GHRH-R). They were compared with normal controls from the same region.

Results: After correction for BSA, subjects lacking a functional GHRH-R have normal prostate and ovaries size, small spleen and uterus, and large liver, pancreas and kidney.

Conclusions: Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Abdomen*
  • Adult
  • Body Height / genetics
  • Body Mass Index
  • Case-Control Studies
  • Female
  • Growth Disorders / congenital
  • Growth Disorders / genetics*
  • Growth Disorders / pathology*
  • Homozygote
  • Hormone Replacement Therapy
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / therapeutic use
  • Humans
  • Male
  • Middle Aged
  • Mutation / physiology
  • Organ Size* / drug effects
  • Organ Size* / genetics
  • Receptors, Neuropeptide / genetics*
  • Receptors, Pituitary Hormone-Regulating Hormone / genetics*

Substances

  • Receptors, Neuropeptide
  • Receptors, Pituitary Hormone-Regulating Hormone
  • Human Growth Hormone
  • somatotropin releasing hormone receptor