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
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,
下丘脑－ GH－ IGF轴
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 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 0.05-0.1u/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.,
Differential diagnosis
? Chronically disease
? Family short stature
? Constitutional growth delay
? Intrauterine growth retardation
? Chromosomal abnormality, 45,XO,
47,XX,+21
? Bone abnormality
? Emotional deprivation
Treatment
? Treatment should be started as soon as
possible to narrow the gap in height
between patients and their classmates
and to have greatest effect on mature
height,
? GH replacement,0.1 U/kg/d,it is
subcutaneously in six or seven
? Therapy should be continuous until near
final height is achieved,
? Stopping treatment, bone age of greater than 14 yr in girl and greater that 16 yr
in boys,Replacement should also be
directed at other hormonal deficiencies
? TSH deficient subjects,L-T4
? ACTH deficient patients,hydrocortisone
? Gonadotropins deficient patients,
gonaddal steroids