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.
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).


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.
Oliveira
Carla R P
CR
Division of Endocrinology, Federal University of Sergipe, Aracaju, Brazil.
Salvatori
Roberto
R
Nóbrega
Luciana M A
LM
Carvalho
Erick O M
EO
Menezes
Menilson
M
Farias
Catarine T
CT
Britto
Allan V O
AV
Pereira
Rossana M C
RM
Aguiar-Oliveira
Manuel H
MH
D000005:Abdomen; D000328:Adult; D001827:Body Height / Q000235:genetics; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D006720:Homozygote; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D009929:Organ Size / Q000187:drug effects / Q000235:genetics; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*
D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D019382:Human Growth Hormone; C048250:somatotropin releasing hormone receptor