上海交通大学：《儿科学》课程PPT教学课件（讲稿，双语版）第十九讲 生长激素缺乏症

Growth Hormone Deficiency 生长激素缺乏症 Xue Fan gu md phd Xinhua Hospital Shanghai jiao Tong University School of medicine

Growth Hormone Deficiency 生长激素缺乏症 Xue Fan Gu, MD, PhD Xinhua Hospital Shanghai Jiao Tong University School of Medicine

Short stature Below the 3rd percentile or -2SD than that of his or her peers Short stature has many causes the pathologic short stature should be suspected in children who have an abnormal growth velocity or who are significantly short for their family

Short stature • Below the 3rd percentile or －2SD than that of his or her peers • Short stature has many causes, the pathologic short stature should be suspected in children who have an abnormal growth velocity or who are significantly short for their family

Growth hormone Chemistry: 191 animo acid, 22-KDa protein Action To growth of the epiphyseal regions of the long bones, also via induce local IGF-I production in the epiphyseal plate at the both level of mRNa and protein. to promote the cell proliferation. a variety of metabolic effect, such as Anabolic action on protein metabolic, lipolysis, animo acid transport in diaphragm and heart. “ Dia ketogenic” action on large gh dose. The effects in normal aging and catabolic conditions are under investigation

Growth Hormone Chemistry：191 animo acid，22-KDa protein Action： • To growth of the epiphyseal regions of the long bones, also via induce local IGF-1 production in the epiphyseal plate at the both level of mRNA and protein. • to promote the cell proliferation. • A variety of metabolic effect, such as Anabolic action on protein metabolic, lipolysis, animo acid transport in diaphragm and heart. • “Diabetogenic” action on large GH dose. • The effects in normal aging and catabolic conditions are under investigation

SS GHRH 下丘脑一GH一IGF轴 门静脉 // GH GHAIGF-I Liver Bone muscle GH GHIIGF other tissues and organs IGF-I General circulation

下丘脑－GH－IGF轴

08 20424 04 08

Etiology of gh deficiency Genetic forms It can be transmitted as an autosomal recessive, autosomal dominat or X-linked recessive trait Abnormalities of the genes: GHrH receptor, Pouifi, Propl, ghl, gh receptor, IGF-1 etc. Acquired forms The gh axis is more susceptible to disruption by acquired conditions that are the other hypothalamic-pituitary axes. Craniopharyngioma, eosinophilic granuloma tuberculosis, Trauma, radiotherapy for malignancies

Etiology of GH deficiency Genetic forms It can be transmitted as an autosomal recessive, autosomal dominat or X-linked recessive trait. Abnormalities of the genes: GHRH receptor, Pouifi, Prop1, GH1, GH receptor, IGF-1 etc. Acquired forms The GH axis is more susceptible to disruption by acquired conditions that are the other hypothalamic-pituitary axes. Craniopharyngioma, eosinophilic granuloma, tuberculosis, Trauma, radiotherapy for malignancies

Clinical manifestations Short stature: slow growth in height, Congenital form: birth length is below the mean, 2-4Sd below the mean by 1 vear of age Acquired form: normal initially, growth faillure gradually appear and progress Delayed closure of the epiphyses. The head is round the face is short and broad The neck is short, the voice is high-pitched, the genitals are undeveloped and sexual maturation may be delayed or absent. The scalp hair is fine. Some with acte、TSH、 gnrh and aDh deficiency

Clinical manifestations • Short stature: slow growth in height, • Congenital form: birth length is below the mean, 2-4Sd below the mean by 1 year of age. • Acquired form: normal initially, growth faillure gradually appear and progress • Delayed closure of the epiphyses. • The head is round, the face is short and broad. The neck is short, the voice is high-pitched, the genitals are undeveloped and sexual maturation may be delayed or absent. The scalp hair is fine. • Some with ACTH、TSH、GnRH and ADH deficiency

Laboratory findings (1) Definitive diagnosis: GH provocative tests Insulin 0.05-0lu/Kg Arginine 0.5g/kg Clonidine 4ug/ks L-dopa 10mg/kg Blood gh test at0、30、60、90min Peak level less than 10ug: gh deficiency The frequency of false-negative response to a single testis approximately 20%

Laboratory findings (1) • Definitive diagnosis: GH provocative tests: Insulin 0.05-0.1u/Kg Arginine 0.5g/kg Clonidine 4ug/kg L-dopa 10mg/kg Blood GH test at 0、30、60、90min • Peak level less than 10ug: GH deficiency • The frequency of false-negative response to a single testis approximately 20%

Laboratory findings(2) Additional measurement: IGF-1, IGFBP-3 tSH, T4, ACTH, LHRH X ray: Skeletal maturation show bone age is delayed. Image examination: Skull study by X ray, Ct or mri to observe the calcification. erosion within or above the sella etc

Laboratory findings (2) • Additional measurement: IGF-1 ， IGFBP-3, TSH，T4，ACTH，LHRH. • X ray : Skeletal maturation show bone age is delayed. • Image examination：Skull study by X ray, CT or MRI to observe the calcification, erosion within or above the sella etc