Growth Hormone De

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Growth hormone de
Physiology\: GH is produced by the anterior pituitary gland in response to GH-releasing hormone (GHRH) from the
hypothalamus. GH stimulates the liver to produce IGF1, which mediates growth-promoting functions.
Causes\:
Congenital\: Genetic mutations, structural brain malformations.
Acquired\: Hypothalamic-pituitary tumour, cranial radiotherapy, traumatic brain injury, CNS infections, sarcoidosis,
tuberculosis, abuse or neglect.
Risk factors\: Family history of GHD, de
Symptoms\:
Common\: Short stature, suboptimal growth velocity, absent/limited growth spurt, delayed puberty, increased weight-to-
height ratio, poor muscle tone.
Less common\: Signs of raised intracranial pressure, visual disturbance, hyperphagia, temperature dysregulation, sleep
disorders, behavioural problems.
Clinical
Typical\: Short stature (greater than 2 SD below the mean), high BMI or central obesity.
Less common\: Neonatal abnormalities, characteristic facial features,
testes, visual disturbances.
Di
IBD), genetic syndromes (e.g Turner syndrome, Noonan syndrome), child abuse or neglect.
Investigations\:
Bedside\: Serial height and weight measurements, capillary blood glucose.
Laboratory\: TFTs, plasma cortisol, coeliac antibodies, serum IGF1, GH provocation test, levels of other pituitary hormones.
Imaging\: Wrist X-ray for bone age, MRI brain to rule out pituitary pathology.
Management\:
Medical\: GH replacement therapy (SC recombinant human GH), adjusted based on growth response and serum IGF1 levels;
additional hormone replacement as needed.
Surgical\: Urgent neurosurgical intervention if a CNS tumour is found.
Referrals\: Ophthalmology for visual disturbances, social services if abuse-related.
Complications\:
Untreated\: Ongoing short stature, osteoporosis, coronary artery disease, type 2 diabetes mellitus, poor quality of life.
GH replacement\: Headaches, idiopathic intracranial hypertension, slipped capital femoral epiphysis, exacerbation of
scoliosis.
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A comprehensive topic overviewIntroduction
Growth hormone de
1

Anatomy and physiology

Growth hormone (GH) is produced by the anterior pituitary gland in response to GH-releasing hormone (GHRH) from the
hypothalamus (Figure 1). Binding of GH to its receptors causes the liver to produce insulin-like growth factor 1 (IGF1). IGF1
then mediates growth-promoting functions of GH.
Figure 1. Production of GH and its e
2,3

Aetiology

GHD can be idiopathic, congenital or acquired.
Congenital
Congenital causes may include\:
Genetic mutation
Structural brain malformation
Acquired
Acquired causes may include\:
Hypothalamic-pituitary tumour (e.g. craniopharyngioma)
Cranial radiotherapy
Traumatic brain injury (including peri- and postnatal)
CNS infection
Sarcoidosis
Tuberculosis
Abuse or neglect
2,4,5

Risk factors

Risk factors for GHD include\:
Family history of GHD
De
Hypothalamic-pituitary tumour
Radiotherapy – particularly for CNS tumours and haematological malignancies
2Clinical features
History
Typical symptoms of GHD include\:
Short stature
Suboptimal growth velocity (signi
5
Absent or limited growth spurt
Delayed puberty
2
Increased weight-to-height ratio
Poor muscle tone (motor delay may result)
Less common symptoms may include\:
Signs of raised intracranial pressure (e.g. headache, vomiting)
Visual disturbance (e.g. bitemporal hemianopia)
Hyperphagia
Temperature dysregulation
Sleep disorder
Behavioural problems
2
Clinical examination
In the context of suspected GHD, a thorough top-to-toe paediatric examination is necessary, including a paediatric growth
assessment.
Typical clinical
Short stature – greater than 2 standard deviations below the mean
High BMI or central obesity
Less common clinical
Neonatal abnormalities (e.g. hypoglycaemia, prolonged jaundice, small penis)
Characteristic facial appearance (e.g. facial hypoplasia, delayed dentition, frontal bossing, cleft lip and palate)
5
Fine hair
Limited nail growth
Small penis +/- undescended testes (if associated with LH de
Visual disturbance
2

Di

The clinical presentation of GHD is similar to the following conditions (Table 1).
Table 1. Di
Di
stature
Features di
5,6,7
Normal growth velocity
No pathological signs
Height > 2 standard deviations below mean
Familial short stature
Normal growth velocity
No pathological signs
One or both parents have short statureChronic disease or
faltering growth
Height proportional to weight
Past medical history of a chronic condition
Examples\:
Congenital heart disease
Cystic
Coeliac disease
In
Poorly controlled diabetes mellitus
Chronic kidney disease
Genetic syndromes
Turner Syndrome
Noonan Syndrome
Prader-Willi syndrome
Child abuse or
neglect
May be known to social services
Interactions between parent and child may be
abnormal

Investigations

There is no gold standard test for GHD – the diagnosis must consider all clinical
Bedside investigations
Relevant bedside investigations in the context of suspected GHD, include\:
Serial height and weight measurements- this may be done using a paediatric growth chart
Capillary blood glucose (DM may cause short stature)
Laboratory investigations
Relevant laboratory investigations in the context of suspected GHD, include\:
TFTs
Plasma cortisol level
Coeliac (TTG) antibodies
5
Serum IGF1\: low in GHD, hypothyroidism, malnutrition and chronic diseases
GH provocation test - GH level measured after clonidine or arginine is administered which stimulates GH secretion
Random GH (neonates only)
Levels of other pituitary hormones (e.g. prolactin, gonadotropin, ACTH)
2,4
Imaging
Relevant image studies in the context of suspected GHD, include\:
Wrist X-ray - to determine bone age and compare to chronological age
MRI brain - pituitary gland pathology must be ruled out in all patients with GHD
2,4

Management

Medical management
The mainstay of medical management is GH replacement with regular monitoring\:
SC recombinant human GH before bed (mimics normal GH secretion)
The dose should be altered based on growth response and serum IGF1Treatment is continued until the
Height increase during the
2,8
Early GH replacement is associated with a better growth response and prognosis.
If there is widespread pituitary dysfunction, additional pituitary hormone replacement may be necessary\:
Levothyroxine for hypothyroidism
Corticosteroids for ACTH de
Oestrogen or testosterone for gonadotrophin de
Surgical management
In certain causes of GHD, surgical management may be considered\:
Urgent neurosurgical opinion if CNS tumour is found on imaging.
2
Management may include a surgical biopsy with or without resection.
9
Referrals
The following referrals may be considered in the management of GHD\:
Ophthalmology referral if eye abnormalities or visual disturbance
Social services referral if abuse-related – psychosocial GHD is reversible and does not respond well to GH replacement
2

Complications

If GHD is untreated, the following complications may occur\:
Ongoing short stature and failure to meet the expected adult height
Osteoporosis
Coronary artery disease
Type 2 diabetes mellitus
Poor quality of life – low libido, lethargy, social isolation
2
There are also several adverse e
Headaches and idiopathic intracranial hypertension
Slipped capital femoral epiphysis
Exacerbation of pre-existing scoliosis
8
Patients are routinely monitored for these complications following initiation of treatment. These issues may be related to
the rapid growth associated with GH replacement. If complications occur, GH therapy may be stopped and restarted at a
reduced dose.

References

Stanley T. D i a g n o s i s o f G r o w t h H o r m o n e D e LINK]
BMJ Best Practice. G r o w t h H o r m o n e D e LINK]
Witkowska-Sidek E and Ruminska M e t a l . T h e a s s o c i a t i o n s b e t w e e n t h e g r o w t h h o r m o n e / i n s u l i n-l i k e g r o w t h f a c t o r-1 a x i s ,
a d i p o n e c t i n , r e s i s t i n a n d m e t a b o l i c p r o
t r e a t m e n t . Published in 2018. [LINK]
Chinoy A and [LINK]
Murray P. D i a g n o s i s o f g r o w t h h o r m o n e d e
National Organization for Rare Disorders (NORD). G r o w t h H o r m o n e D e LINK]
FideleLINK]
Davis T. E x a m i n a t i o n \: t h e c h i l d w i t h s h o r t s t a t u r e . Published in 2014.
Rogol A and Richmond E. U p T o D a t e \: T r e a t m e n t o f g r o w t h h o r m o n e d e LINK]Chamberlain M and Silbergeld D. B M J B e s t P r a c t i c e \: Published in 2018. [LINK]

Reviewer

Dr Kiran Kumar
Paediatric Endocrinologist

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Contents

Introduction
Anatomy and physiology
Aetiology
Risk factors
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