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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
Author(s) -
Oliveira Carla R. P.,
Salvatori Roberto,
Nóbrega Luciana M. A.,
Carvalho Erick O. M.,
Menezes Menilson,
Farias Catarine T.,
Britto Allan V. O.,
Pereira Rossana M. C.,
AguiarOliveira Manuel H.
Publication year - 2008
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2007.03148.x
Subject(s) - ighd , endocrinology , medicine , short stature , dwarfism , biology , hormone , growth hormone deficiency , growth hormone , gene , genetics
Summary 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.