Mouse Anti-Mouse Ighd Hybridoma [8.3]

ObjectiveThe prevalence of isolated growth hormone deficiency (IGHD) among short-statured children in Jordan, where consanguineous marriage (CM) is common, is unknown. No studies have investigated the relationship between degrees of consanguinity and IGHD. This study aimed to determine the prevalence of IGHD among short-statured children referred to a university hospital in Jordan and its relationship with different degrees of consanguinity. DesignWe conducted a 24-month cross-sectional observational trial at an outpatient tertiary care center in Amman, Jordan. PatientsWe obtained detailed family histories, medical evaluations and laboratory tests for 94 short-statured children (50 boys and 44 girls aged 6-16years). MeasurementsComplete and partial GHD were defined as peak GH responses of 5 and 7g/l (15 and 21mIU/l) [IRMA/DiaSorin (R)], respectively, in both exercise and insulin tolerance tests. ResultsGHD was diagnosed in 691% of the short children, including 86% (43/50) of the children of consanguineous parents (833%, 938% and 818% of children of first cousins, first cousins once removed and second cousins, respectively) and 50% (20/44) of the children of nonconsanguineous parents (P=0039, 0002 and 0013, respectively). However, there was no statistically significant difference in the prevalence of small pituitary MRI between GH-deficient children of consanguineous parents and those of nonconsanguineous parents (286% vs 136%, P=03). ConclusionsThe prevalence of IGHD among referred short children in Jordan was exceptionally high and significantly higher in the children of CM. In countries where CM is common, preconception counselling and rigorous surveillance for GHD in short children may be indicated.

Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor (GHRH-R) genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low but detectable levels of growth hormone (GH), short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c. 97C> T), leading to a premature stop codon. Administration of recombinant human GH improved linear growth. This is the first report of a c. 97C> T mutation of the GHRH-R gene.