A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6kb deletion

2007 ◽  
Vol 17 (3) ◽  
pp. 249-253 ◽  
Author(s):  
Yoshitaka Hayashi ◽  
Takashi Kamijo ◽  
Michiyo Yamamoto ◽  
Yoshiharu Murata ◽  
John A. Phillips ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Missense Mutation ◽  
Hormone Deficiency ◽  
Initiation Codon ◽  
Compound Heterozygous ◽  
Isolated Growth Hormone Deficiency ◽  
Compound Heterozygous Mutations

scholarly journals Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xi Yang ◽  
Mingming Yuan ◽  
Zhuoguang Li ◽  
Yanqin Ying ◽  
Ling Hou ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Genetic Testing ◽  
Growth Hormone Deficiency ◽  
Hormone Replacement ◽  
Hormone Deficiency ◽  
Compound Heterozygous ◽  
Isolated Growth Hormone Deficiency ◽  
Genetic Test Results ◽  
Type Ia ◽  
Deficiency Type

Abstract Background A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment. Case presentation We analyzed and summarized the clinical data and genetic test results from a patient with IGHD admitted in March 2019 to the Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. We described the results from a 1-year-9-months old female, whose chief complaint was “growth retardation for more than one year”. Her birth length was 49.0 cm, and her birth weight was 3.05 kg. Suboptimal intake (breastfeeding) jaundice lasted for approximately two months following birth. When evaluated at the age of 1-year-9-months old, the patient’s height was 61.0 cm (− 7.24 SD), and her weight was 6.4 kg (− 1.50 SD). The patient’s physical characteristics included yellowish hair, large and unclosed anterior fontanelles, raised forehead, and a low and flat nose. The major abnormalities observed from the auxiliary examinations included low GH (< 0.05 μg/l), low IGF-1 (16.99 μg/l), and elevated TSH (6.97 mIU/l). Genetic testing revealed two heterozygous variants: a splicing mutation (NG_011676.1(NM_022560.4): c.10 + 1G>T, inherited from her mother) in intron 1 of the GH1 gene and a deletion that encompassed the same gene (chr17: 61973811–61996255, inherited from her father). After hormone replacement therapy with L-thyroxine and recombinant human GH (rhGH), the patient’s thyroid function returned to normal, and her serum IGF-1 level significantly improved, which resulted in an accelerated increase in height. Conclusion This study described a case of IGHD caused by novel compound heterozygous mutations in the GH1 gene. This study suggested that closer attention should be directed to genetic testing and diagnosis based on clinical characteristics to avoid misdiagnosis.

scholarly journals Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus

2012 ◽  
Vol 56 (8) ◽  
pp. 558-563 ◽  
Author(s):  
Ana Keselman ◽  
Paula A. Scaglia ◽  
María Soledad Rodríguez Prieto ◽  
María Gabriela Ballerini ◽  
María Eugenia Rodríguez ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Pcr Amplification ◽  
Hormone Deficiency ◽  
Compound Heterozygous ◽  
Molecular Defect ◽  
Laboratory Findings ◽  
Gene Deletions ◽  
Isolated Growth Hormone Deficiency ◽  
Type Ia

Isolated growth hormone deficiency (IGHD) may result from deletions/mutations in either GH1 or GHRHR genes. The objective of this study was to characterize the molecular defect in a girl presenting IGHD. The patient was born at 41 weeks of gestation from non-consanguineous parents. Clinical and biochemical evaluation included anthropometric measurements, evaluation of pituitary function, IGF-I and IGFBP-3 levels. Molecular characterization was performed by PCR amplification of GH1 gene and SmaI digestion of two homologous fragments flanking the gene, using genomic DNA from the patient and her parents as templates. At 1.8 years of age the patient presented severe growth retardation (height 61.2 cm, -7.4 SDS), truncal obesity, frontal bossing, doll face, and acromicria. MRI showed pituitary hypoplasia. Laboratory findings confirmed IGHD. GH1 gene could not be amplified in samples from the patient while her parents yielded one fragment of the expected size. SmaI digestion was consistent with the patient being compound heterozygous for 6.7 and 7.6 Kb deletions, while her parents appear to be heterozygous carriers for either the 6.7 or the 7.6 Kb deletions. We have characterized type IA IGHD caused by two different GH1 gene deletions, suggesting that this condition should be considered in severe IGHD, even in non-consanguineous families. Arq Bras Endocrinol Metab. 2012;56(8):558-63

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances

2014 ◽  
Vol 35 (3) ◽  
pp. 376-432 ◽  
Author(s):  
Kyriaki S. Alatzoglou ◽  
Emma Alice Webb ◽  
Paul Le Tissier ◽  
Mehul T Dattani
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Childhood And Adolescence ◽  
Isolated Growth Hormone Deficiency ◽  
Recent Advances

scholarly journals Insulin Sensitivity and β-Cell Function in Adults with Lifetime, Untreated Isolated Growth Hormone Deficiency

2012 ◽  
Vol 97 (3) ◽  
pp. 1013-1019 ◽  
Author(s):  
Carla R. P. Oliveira ◽  
Roberto Salvatori ◽  
Jose A. S. Barreto-Filho ◽  
Ivina E. S. Rocha ◽  
Andrea Mari ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Insulin Sensitivity ◽  
Growth Hormone Deficiency ◽  
Cell Function ◽  
Hormone Deficiency ◽  
Β Cell ◽  
Isolated Growth Hormone Deficiency ◽  
Β Cell Function

Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

1993 ◽  
Vol 152 (6) ◽  
pp. 509-512 ◽  
Author(s):  
Á. Haraldsson ◽  
C. J. A. M. van der Burgt ◽  
C. M. R. Weemaes ◽  
B. Otten ◽  
J. A. J. M. Bakkeren ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Antibody Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency ◽  
Mulibrey Nanism
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