IGHDIsolated Growth Hormone Deficiency
IGHDIdiopathic Growth Hormone Deficiency
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All of these twelve patients conformed to the clinical and diagnostic criteria for isolated IGHD and had GH peaks less than 10 ng/mL following two different provocative pharmacological stimuli (levodopa and ITT) prior to beginning treatment.
Patients who had received GH treatment during their childhood for IGHD and had been off GH treatment when they reached their final height were retested with ITT in our pediatric endocrinology department and among them 12 patients who agreed to participate in the study were followed-up prospectively.
Rodriguez Prieto et al., "Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus," Arquivos Brasileiros de Endocrinologia & Metabologia, vol.
Dattani, "Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD)," Indian Journal of Pediatrics, vol.
We studied two nonrelated patients from Argentina with severe short stature and IGHD type 2 attributable to the R183H GH-1 gene mutation and found that the evaluation of GH response to provocative tests might be misleading in these patients, depending on the type of assay used to assess GH secretion.
We report here on two prepubertal girls, belonging to two different families, with severe short stature and autosomal dominant IGHD. The initial work up was misleading because they had normal responses to two provocative tests of GH secretion, as measured by the SER 66/217 GH assay.
Familial IGHD is classified into four distinct types with different clinical manifestation and inheritance patterns.
A number of mutations within the specific locus of the GHRH-R gene have been reported in IGHD type 1b subjects, leading to loss of the receptor function and thus to growth failure.
Serum GH response to clonidine, glucagon and arginine stimulation tests revealed very poor response, with a peak GH value of 4.77 ng/mL, demonstrating IGHD (Table 1).
Some of the causes of congenital IGHD are GHRH-R gene defects.
Herein, we present a previously undescribed homozygous GHRH-R gene mutation, c.97C>T (p.Gln33*) in a child with IGHD type 1b.
In conclusion, we report a novel homozygous c.97C>T (p.Gln33*) GHRH-R mutation determined in a Greek infant girl with IGHD. Heterozygosity of the reported variant was not associated with pathological phenotypes in the unaffected family member c.97C>T.