Isolated growth hormone deficiency type Ⅳ caused by a missense mutation in the growth hormone releasing hormone receptor(GHRHR) gene: One case report
10.3760/cma.j.cn311282-20240617-00265
- VernacularTitle:生长激素释放激素受体(GHRHR)基因错义突变致孤立性生长激素缺乏症Ⅳ型一例
- Author:
Yongjun WANG
1
;
Yikun ZHOU
1
;
Xingyu WANG
1
Author Information
1. 昆明理工大学附属医院（云南省第一人民医院）内分泌代谢疾病科，昆明 650000
- Publication Type:Journal Article
- Keywords:
Mutation;
GHRHR gene;
Dwarfism;
Isolated growth hormone deficiency, type Ⅳ
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(3):245-249
- CountryChina
- Language:Chinese
-
Abstract:
Isolated growth hormone deficiency(IGHD) type Ⅳ is associated with genetic mutations in the growth hormone releasing hormone receptor(GHRHR) gene. This report presents a case of IGHD type Ⅳ with undetectable growth hormone level and an absent response to the insulin-induced hypoglycemia test, indicating complete growth hormone deficiency. Next-generation sequencing identified a novel homozygous missense mutation, c. 680T>C(p.Leu227Pro*), in the GHRHR gene in the patient and her sister. Protein functional analysis suggests that this mutation disrupts the structure and stability of the GHRHR protein, impairing its function. Genetic and clinical evaluation confirms that the c. 680T>C(p.Leu227Pro*) mutation is pathogenic and inherited in an autosomal recessive pattern. A literature review of IGHD type Ⅳ mutation hotspots is included to support clinical diagnosis and management.
