Same Phenotype in Children with Growth Hormone Deficiency and Resistance
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 chil...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/5902835 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849685364869955584 |
|---|---|
| author | Irene Ioimo Carmen Guarracino Cristina Meazza Horacio M. Domené Mauro Bozzola |
| author_facet | Irene Ioimo Carmen Guarracino Cristina Meazza Horacio M. Domené Mauro Bozzola |
| author_sort | Irene Ioimo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c3f5bf1431264b20a5c4b9a43be23faa |
| institution | DOAJ |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-c3f5bf1431264b20a5c4b9a43be23faa2025-08-20T03:23:11ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/59028355902835Same Phenotype in Children with Growth Hormone Deficiency and ResistanceIrene Ioimo0Carmen Guarracino1Cristina Meazza2Horacio M. Domené3Mauro Bozzola4University of Pavia, Piazzale Golgi 2, 27100 Pavia, ItalyUniversity of Pavia, Piazzale Golgi 2, 27100 Pavia, ItalyUniversity of Pavia, Piazzale Golgi 2, 27100 Pavia, ItalyCentro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE) CONICET-FEI, División de Endocrinología, Hospital de Niños “Ricardo Gutiérrez”, Buenos Aires, ArgentinaUniversity of Pavia, Piazzale Golgi 2, 27100 Pavia, ItalyBy 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.http://dx.doi.org/10.1155/2018/5902835 |
| spellingShingle | Irene Ioimo Carmen Guarracino Cristina Meazza Horacio M. Domené Mauro Bozzola Same Phenotype in Children with Growth Hormone Deficiency and Resistance Case Reports in Pediatrics |
| title | Same Phenotype in Children with Growth Hormone Deficiency and Resistance |
| title_full | Same Phenotype in Children with Growth Hormone Deficiency and Resistance |
| title_fullStr | Same Phenotype in Children with Growth Hormone Deficiency and Resistance |
| title_full_unstemmed | Same Phenotype in Children with Growth Hormone Deficiency and Resistance |
| title_short | Same Phenotype in Children with Growth Hormone Deficiency and Resistance |
| title_sort | same phenotype in children with growth hormone deficiency and resistance |
| url | http://dx.doi.org/10.1155/2018/5902835 |
| work_keys_str_mv | AT ireneioimo samephenotypeinchildrenwithgrowthhormonedeficiencyandresistance AT carmenguarracino samephenotypeinchildrenwithgrowthhormonedeficiencyandresistance AT cristinameazza samephenotypeinchildrenwithgrowthhormonedeficiencyandresistance AT horaciomdomene samephenotypeinchildrenwithgrowthhormonedeficiencyandresistance AT maurobozzola samephenotypeinchildrenwithgrowthhormonedeficiencyandresistance |