Same Phenotype in Children with Growth Hormone Deficiency and Resistance

Irene Ioimo,Mauro Bozzola,Horacio M Domené,Carmen Guarracino,Cristina Meazza

doi:10.1155/2018/5902835

Irene Ioimo, Mauro Bozzola + Show 3 more

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https://doi.org/10.1155/2018/5902835

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Abstract

By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. The second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulating levels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. These classical cases show the importance of differential diagnosis in children with severe short stature.

Highlights

By definition, about 2.5% of children show a short stature due to several causes, including familiar background, genetic and chromosomal abnormalities, hypothyroidism, and chronic diseases such as celiac and Crohn’s disease [1].Paediatric growth disease can be secondary to growth hormone-insulin-like growth factor-I (GH-IGF-I) axis disorders, such as GH deficiency (GHD) or GH insensitivity (GHI), both characterized by serum low levels of IGF-I [2].e first approach to a short child is clinical and based on the medical history and a physical examination focused on finding abnormal signs and dysmorphic features
Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar
We studied two children with short stature and similar phenotypes. e first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak

Summary

Introduction

About 2.5% of children show a short stature due to several causes, including familiar background, genetic and chromosomal abnormalities, hypothyroidism, and chronic diseases such as celiac and Crohn’s disease [1].Paediatric growth disease can be secondary to growth hormone-insulin-like growth factor-I (GH-IGF-I) axis disorders, such as GH deficiency (GHD) or GH insensitivity (GHI), both characterized by serum low levels of IGF-I [2].e first approach to a short child is clinical and based on the medical history and a physical examination focused on finding abnormal signs and dysmorphic features. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. E first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak

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