Transcript Short Stature

Short Stature
Department of Pediatrics
Soochow University Affiliated Children’s Hospital
Short
stature
Aim and claim
 Understanding the growth of infant and child
 Familiar with the causes of short stature
(mainly get hold of the causes of endocrine
disorders)
 Get hold of the examination and investigation
of short stature
Short
Stature
 As growth is the essential biological characteristic of
childhood,failure of physical growth may be an
important sign of disease.
 Short stature occurs in several endocrine diseases as
the hormones from the pituitary(垂体),thyroid(甲状
腺),adrenals(肾上腺) and gonads(性腺) are involved in
growth.
 Other types of disease in childhood can also impair
growth and so the differential diagnosis of the short child
is wide
Short Stature
 There is a rapidly decelerating growth phase in
infancy dependent on nutrition
 The steady,slowly decelerating growth phase in
childhood is dependent on growth hormone
 The rapidly accelerating and decelerating pubertal
growth spurt is dependent upon the normal secretion
of GH(生长激素) and sex steroids(性类固醇激素).
Definitions
 Any child whose height falls below the 3rd
centile for his or her community should be
considered short.
 The mean heights of children vary with
race,geography and time.
Causes of short stature
*Familial short stature(家族性矮小)
*Constitutional delay of pubertal
growth spurt(体质性青春期延
迟)
*lowbirth weight (低出生体重儿);
malnutrition
*Endocrine disorders:
A.growth hormone deficiency(GHD)
B .hypopituitarism
C.hypothyroidism
D.Cushing syndrome
*Chromosomal
disorders/syndrome:
A.Turner syndrome
B.Silver-Russell syndrome
*Skeletal dysplasias:
achondroplasia(软骨发育不良)
*Emotional/psychosocial
deprivation dwarfism(情感剥夺
性侏儒)
*Chronic illness:
A.congenital heart disease
B.cystic fibrosis(囊性纤维化)
C.cerebral palsy
D.chronic renal failure
Familial short stature
 A deceleration in linear growth to reach their
target percentile which is determined largely
by genetic factors
 Born with normal weight and length
 The height percentile is maintained,and final
height is short but appropriate for the family
 Skeletal maturation and timing of puberty
are normal
Constitutional growth delay
 Growth pattern similar to those with familial
short stature
 Have a delay in skeletal maturation and
onset of puberty
 Pubertal catch-up growth
 Growth continues beyond the time the
average child has stopped growing
 Final height is normal
Lowbirth weight(IUGR)
 Intrauterine growth retardation
 Secondary to poor maternal
environment ,fetal malnutrition,congenital
infection etc
 Many children with IUGR exhibit catch-up
growth during first 2-3 years of life
 15%-20% will remain short through life
Growth hormone
deficiency(GHD)
 GH is produced by the anterior pituitary gland
under the stimulation of GHRH and GHRIH
 GH is secreted in a pulsatile pattern in response
to sleep,exercise,and hypoglycemia etc
Growth hormone deficiency
(GHD)
Clinical feature
 Decreased growth velocity
 Delay in skeletal maturation and subnomal
GH secretion
 Maybe isolated or with other pituitary
hormone deficiencies
hypothalamus- pituitary- gland axis
（H-P-G 轴）
hypothalamus- pituitary- gland axis
hypothalamus- pituitary- gland axis
（H-P-G轴）
 The pituitary gland is the major regulator of an elaborate
hormonal system.
 The pituitary gland receives signals from the
hypothalamus and responds by sending pituitary
hormones to target glands. The target glands produce
hormones that provide negative feedback at the level of
the hypothalamus and pituitary. This feedback
mechanism enables the pituitary to regulate the amount
of hormone released into the bloodstream by the target
glands .
 The pituitary's central role in this hormonal system and its
ability to interpret and respond to a variety of signals
have led to its designation as the "master gland."
hypothalamus- pituitary- gland axis
（H-P-G轴）
 The pituitary gland is composed of an anterior
adenohypophysis(腺垂体前叶) and a posterior
neurohypophysis(神经垂体) lobe.
 The anterior lobe constitutes about 80% of the
gland.
hypothalamus- pituitary- gland axis
（H-P-G轴）
 A series of sequentially expressed transcriptional
activation factors directs the differentiation and
proliferation of anterior pituitary cell types, These
proteins are members of large family of DNA-binding
proteins resembling homeobox genes. The
consequences of mutations in several of these genes
are evident in human forms of multiple pituitary
hormone deficiency.
hypothalamus- pituitary- gland axis
（H-P-G轴）
Five cell types in the anterior pituitary produce 6
peptide hormones. So matotropes produce growth
hormone (GH); lactotropes produce prolactin (PRL);
thyrotropes make thyroid stimulating hormone (TSH);
corticortropes express pro-opiomelanocortin (POMC),
the precursor of adrenocprticotropic hormone
(ACTH), and gonadotropes express both luteinizing
hormone (LH) and follicle-stimulating hormone (FSH).
GHD
 GHD may be congenital, genetic(gene
mutation), or acquired (histiocytosis, cranial
irradiation)
 Idiopathic GHD and GH insensitivity
syndrome(mutation in the GH receptor)
 Infants GHD are of normal birth
weight,slightly reduced in length
 Excess truncal adiposity
Growth hormone deficiency
 Patients who are significantly short or are
growing slowly,in whom GH insufficiency is
considered.
 If the preliminary GH level is low ,formal
provocative testing by insulin-induced
hypoglycaemia,L-dopa or clonidine or more
complex is indicated so that patients with
classical severe GH deficiency may be
identified.
Growth hormone deficiency
 Clinical – especially if other pituitary deficiencies
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present
Genetic testing
Biochemical
Peak GH to provocation. Remains controversial
because of limitations with ‘normal’ data, reproducibilty,
assay standardisation, primed vs non primed in
peripubertal yrs
Severe GHD <4-5 ug/L, Partial <7.5-10 ug/L
Low IGF-I/IGF BP3. Require good reference ranges
Imaging
MRI
Bone Age
Hypothyroidism
Thyroid hormone(T3.T4) play an important role in
growth and nerve system development，the
clinical features include:
 Deformity
 Short
 Mental defeciency or badly intellect
 Myxedema face(黏液性水肿面容）
Steroid excess
 Steroid and GH is opposite or confrontation,
 So thesteroid excess may lead to GH low
Clinical
feature
Fat , short, hair excess, moonshaped face,
skin purple striae(皮肤紫纹）
Short stature associated with
syndromes
 Turner Syn.(chromosomal express 45XO)
 With micrognathia , cubitus valgus,（肘外翻）
webbed neck,（颈蹼）low posterior
hairline,edema of hands and feet,multiple
pigmented nevi （多痣）etc
 Short may has the only clinical menifestation
 Uterus and ovary dysplasia
 GH can not be low
Short stature associated with
Syn.
 Silver-Russell Syn.express:
 Fat
 Short
 small eye fram,
 low intelligence
 disturbance of reproduction function
Disproportionate short stature
 Skeletal dysplasia(achondroplasia)（软骨发
育不良）
 Measurements of arm span and upper-tolower body segment ratio are helpful to
determine weather a child has normal body
proportions
 Specific radiographic features
 It is rare
Psychosocial short stature
 Emotional deprivation
 Fell depressing
 Often occurs in the misfortune family or be
maltreated(abused)
 GH secretion diminished
 Foster home placement or a change in the
phychosocial environment at home may
improve growth
Chronic illness
 Congenital heart disease
 Cystic fibrosis
 Cerebral palsy
 Chronic renal failure
Diagnosis of short stature
History
Examination
1.Pragnancy and birth-low
birth weight?
1.Height(centile chart)
2.Parental height-TCR
2.Growth(to monitor the
velocity)
3.Family history-inherited
diseases
3.Dysmophic features
4.the age of pubertal
onset(skeletal closed?)
5.chronic illness?nutritional
assessment
4.Weight(malnutrition)
5.Visual fields and sight
(tumor exist?)
6.Stage of puberty(pubertal
delay?)
Diagnosis of short stature
Investigations
 radiograph of left hand for bone age
 Karyotype (grasp chromosomal disorder)
 Skeletal survey
 Endocrine investigations（T3`T4`TSH;
 GH provocation test)
 Skull X-ray or CT and MRI(find out tumor)
The management of short stature
 The treatment of short stature should be in view of the
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reason
Familial short is not good method
Constitutional delay of puberty can wait until his
pubertal growth spurt is coming
Lowbirth weight without catch-up growth can use
HGH
Chromosomal disorders are not effective methods
except Turner Syn.
Chronic illness needs to treat primary disorders
The management of short stature
 Endocrine replacement treatment:
 Hypothyroidism needs to use thyroid hormone
 Cushing Syn. needs to treat primary disease
 GHD needs to endocrine replacement treatment
The management of short stature
Growth hormone dose:15 i.u ./m2/week
mode of administration:daily,s.c.injections
 A child with congenital hypopituitarism treated
from birth will grow quite normally.Children with
GH insufficiency grow normally once introduced
to treatment and show catch-up growth.
 Psychological treatment
思考题
Case : A boy 6 year old,chief complain is short ,no other
signs and symtoms, the velocity of growth is below 4cm
/yer,the birth weight is 3.5 Kg, the height is 100cm,the
weight is 20Kg, he has normal body proportions,his
father’s height is 172cm, his mother’s height is 160cm.
The question is : how we diagnosis it? What should
we do in order to help us make a diagnosis?
The answer is: first we should confirm
weather he is short according to the standard,
then we should take some investagations, for
example, radiograph of left hand for bone
age; GH provocation test and skull MRI,we
must take examination datial for his body in
order to exclude other chronic illness,
finaly ,we can make a diagnosis.
参考书目
 《Paediatrics》 (mosby’s crash course)
科学出版社
 《Paediatrics》
北京大学医学部出版社
谢 谢