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


Roberto Salvatori, Division of Endocrinology, Johns Hopkins University, 1830 East Monument St. No. 333, Baltimore, MD 21287, USA. Tel.: +1 410 955 3921; Fax: +1 410 955 8172; E-mail:


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.