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

BMC Medical Genomics

Mingming Yuan¹  Ling Hou¹  Yanqin Ying¹  Xiaoping Luo¹  Xi Yang¹  Zhuoguang Li² 

[1] Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jie Fang Avenue, Hankou, 430030, Wuhan, People’s Republic of China;Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jie Fang Avenue, Hankou, 430030, Wuhan, People’s Republic of China;Department of Endocrinology, Shenzhen Children’s Hospital, 518038, Shenzhen, People’s Republic of China;

关键词: Isolated growth hormone deficiency;    GH1;    Gene;    Mutation;   

DOI  :  10.1186/s12920-021-01057-z

来源: Springer

【 摘 要 】

BackgroundA 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 presentationWe 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.ConclusionThis 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.

【 授权许可】

CC BY