Reported use and effect of growth hormone (GH) therapy in children with GSD is limited. We report on the use of substitutive GH treatment in a poorly growing adolescent female with GSD type Ib. The patient's growth velocity increased from a baseline level of 2.5 cm/y to an average growth velocity during GH therapy of 8.7 cm/y.

2017年2月1日 · Background: Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH deficiency.

Glycogen Storage Disease Ia (GSD Ia, Von Gierke’s Disease) is caused by pathogenic variants in the G6PC gene which encodes glucose-6-phosphatase. Deficiency of glucose-6-phosphatase impairs the processes of gluconeogenesis and glycogenolysis by preventing conversion of glucose-6-phosphate to glucose.

2010年10月26日 · Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a...

患儿因生长激素缺乏所导致的身材矮小，称为生长激素缺乏症（growth hormone deficiency，GHD），又称垂体性侏儒症。 GHD是儿科临床常见的内分泌疾病之一，大多为散发性，少部分为家族性遗传。

Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack of one or more enzymes involved in the synthesis or degradation of glycogen and are characterized by deposits or abnormal types of glycogen in tissues. Their frequency is very low and they are considered rare diseases.

2022年6月16日 · The most probable cause is disruption of the growth hormone (GH)–insulin-like growth factor (IGF) I axis in patients with GSD Ia . Growth hormone can efficiently and safely treated children with short stature, including growth hormone deficiency (GHD), idiopathic short stature (ISS), and small for gestational age (SGA), as well as children ...

2021年7月31日 · 成人GHD指成人垂体前叶生长激素(growth hormone, GH)合成与分泌功能受到损害，GH完全或部分缺乏，并导致代谢紊乱。 成人GHD根据起病年龄分为儿童期发病(childhood-onset)和成人期发病(adult-onset)。

2019年6月22日 · GSD type I (GSD I) is caused by defective glycogenolysis and gluconeogenesis and is classified into two subtypes: GSD Ia (Von Gierke disease/glucose-6-phosphatase/G6Pase deficiency) and GSD Ib (glucose-6-phosphate transporter/G6PT deficiency) .

生长激素激发试验是用盐酸精氨酸刺激生长激素的分泌，判断生长激素储备功能是否正常。由于任何一种刺激实验都有15%的假阳性率（指gh分泌低下），因此，必须在两项刺激实验结果都不正常时，方能确诊ghd。