1
Q
Define short stature
A
Height more than 2 standard deviations below the average for their age & sex/ height below the 2nd centile for their age & sex
(this is the same as being below the 2nd centile. Remember centile space is 2/3 of standard deviation so 3 centile spaces is 2 standard deviations. Centiles are 0.4th, 2nd, 9th, 25th, 50th, 75th, 91st and 99.6th. Average heigh tis the 50th centile so 2 standard deviations below is 3 centiles below the 50th centile which is the 2nd centile)
2
Q
State some potential causes for short stature
A
- Familial short stature
- Constitutional delay in growth & development
- Malnutrition
- Chronic diseases e.g. coeliac disease, IBD, congential heart disease
- Endocrine disorders e.g. hypothyroidism, growth hormone deficiency
- Genetic conditions e.g. down syndrome
- Skeletal dysplasia e.g. achondroplasia
3
Q
For constitutional delay in growth & puberty, discuss:
- What it is
- How it presents
- Key feature
- Diagnosis
- Management
A
- CDGP is a variation of normal development; puberty is delayed hence the pubertal growth spurt is delayed and lasts longer. It is the delay in puberty that causes the delay in the growth spurt. Final height & sexual development are reached at a later age.
- Presents with short stature in childhood but child evnetually reaches a normal height in adulthood
- Key feature= delayed bone age
- Diagnosis is by history, examination & x-ray of hand & wrist to assess bone age
- Managment= exclusion of other causes (it is a diagnosis of exlcusion), reassuring parents and child, monitoring overtime
4
Q
When does puberty start in:
- Boys
- Girls
How long does it take to finish?
A
- Boys starts aged 9-15yrs
- Girls starts aged 8-14yrs
Puberty usually takes about 4yrs from start to finish
5
Q
Discuss the order of puberty-related changes in girls
A
- Thelarche (development of breast buds)
- Pubic hair growth
- Growth spurt
- Menarche (about 2yrs from start of puberty)
- Pubic hair adult
- Breast adult
6
Q
Discuss the order of puberty-related changes in boys
A
- Enlargement of testes
- Gradual darkening of scrotum
- Development of pubic hair, lengthening of penis and deepening of voice
- Growth spurt (including development of more muscular physique)
- Genitals conitnue to enlarge
- Adult pubic hair, growth of faical hair
7
Q
What staging can be used to determine pubertal stage?
A
Tanner scale (based pm examination findings of sexual characteristics)
8
Q
Discuss tanner staging for girls
A
For girls, look at both breast development & pubic hair. Stage 1-5:
Breast Development
1: No glandular breast tissue
2: Breeast bud
3: Breast tissue palpable outside areola
4: Areolar elevated forming ‘double scoop’ appearance
5: Areolar mound recedes back with areolar hyperpigmentation, papillae development & nipple protrusion
Pubic Hair
1: No hair
2: Initial growth of long, straight and lightly coloured hairs
3: Pubic hair is s becomes darker, coarser, curlier and spread scarcely over mons pubis
4: Abundant adult type pubic hair (terminal hair) over mons
5: Adult pubic hair distribution- classic traingle. Some may have hair that extends beyond inguinal crease onto medial thigh
9
Q
Discuss tanner staging for boys
A
For boys, look at both male external genitalia and pubic hair. Stages 1-5:
Male external genitalia
1: Testicular volume <4ml or long axis <2.5cm
2: Enlargement of scrotum & testes so that testicular volume is >/= 4ml. Penis may have grown a little in length.
3: Testes continue to enlarge, penis grown in length
4: Testes continue to enlarge, penis grown in both length & width. Head of penis become larger.
5. Adult sized & shaped penis & testes
Pubic hair
1: No hair
2: Initial growth of long, straight and lightly coloured hairs at root of penis
3: Pubic hair is s becomes darker, coarser- mostly at the root of penis
4: Abundant adult type pubic hair (terminal hair) which reaches thights
5: Adult pubic hair distribution with hair extending up towards umbilicus & may spread to medial thighs
10
Q
Hypogonadism can cause a delay in puberty; define hypogonadism
A
Lack of sex hormones, oestrogen & testosterone/decreased functional activity of gonads
11
Q
Hypogonadism can be:
- Hypogonadotrophic hypogonadism
- Hypergonadotrophic hypogonadism
… describe each
A
- Hypogonadotrophic (secondary) hypogonadism: deficiency of LH & FSH
- Hypergonadotrophic (primary) hypogonadism: lakc of response to LH & FSH by the gonads (ovaries & testes)
12
Q
For hypogonadotrophic hypogonadism, discuss:
- How it leads to hypogonadism
- Some potential causes of hypogonadotrophic hypogonadism
A
GnRH (gonadotrophin releasing hormone) is release by hypothalamus and stimulates the anterior pituitary to release LSH and FSH. LH and FSH are gonadotrophins which stimulate the gonads to produce sex hormones. Deficiency of either GnRH or LH and FSH can lead to decreased sex hormones.
Occurs due to either abnormal functioning of the hypothalamus or the pituitary:
- Damage to hypothalamus or pituitary (e.g. radiotherapy for cancer, injury,. tumour)
- Growth hormone deficiency
- Hypothyroidism
- Hyperprolactinaemia
- Congenital e.g. Kallman syndrome
- Chronic disease e.g. cystic fibrosis, IBD
- Functional e.g. inadequate nutrition/rapid weight loss/eating disorders
13
Q
For hypergonadotrophic hypogonadism, discuss:
- How it leads to hypogonadism
- Some potential causes of hypergonadotrophic hypogonadism
A
GnRH, LH and FSH are released as they should be but the gonads show a lack of response to the gonadotrophins LH & FSH. There is no negative feedback from the sex hormones hence anterior pituitary produces increasing amounts of LH & FSH in attempt to stimulte the gonads hence you get high levels of gonadotrophins (hypergonadotrophic).
Occurs due to abnormally functioning gonads:
- Damage to gonads (e.g. testicular torsion, cancer, infections such as mumps)
- Congenital absence of testes or ovaries
- Kleinfelters syndrome (XXY)
- Turner’s syndrome (XO)
14
Q
Remind yourself what Kallman syndrome is
A
Genetic syndrome causing hypogonadotrophic hypogonadism and an impaired (reduced or absent) sense of smell
15
Q
Remind yourself what Turner’s syndrome is
A
Female only genetic disorder in which child only has 1 X chromosome (as opposed to 2); hence karyotype is XO. Ovaries do not complete normal development and hence there is a lack of oestrogen resulting in hypergonadotropic hypogonadism. Treat with HRT. See image for characteristics.
16
Q
Remind yourself what Kleinfelter’s sydnrome is
A
Boys are born with extra X chromosome so have karotype XXY. Symptoms & signs:
- History of delayed early development
- Delayed puberty
- Tiredness
- Reduced muscle tone
- Gynaecomastia
- Taller than expected with long arms & legs
- Broad hips
- Reduced facial & body hair
- Small penis & testicles
- Subfertility
17
Q
At what age would you be concerned an start investigations for delayed puberty in:
- Girls
- Boys
A
- Girls: 13yrs
- Boys: 14yrs
18
Q
Discuss what investigations you may consider if you suspect delayed puberty; for each state why
A
Blood Tests
- FBC & ferritin: assess for anaemia (severe chronic anaemia can lead to delayed growth)
- U&E: asses for CKD (can delay and blunt affects of puberty)
- Anti TTG or anti EMA: assess for coeliac disease as can delay puberty
- Early morning FSH & LH:asses if hypergonadotropic or hypogonadotropic
- TFTs: hypothyroidism can delay puberty
- Prolactin: prolactin inhibits GnRH release so can cause hypogonadotropic hypogonadism
- Insulin-like growth factor: assess for GH deficiency as can delay puberty
Imaging
- X-ray of wrist: asses bone age to make diagnosis of CDGD
- Pelvic ultrasound: asses ovaries in females
- MRI brain: asses for pituitary pathology & olfactory bulbs (in possible Kallman syndrome)
Genetic testing
- E.g. for Turner’s syndrome (XO), Kleinfelter’s syndrome (XXY)
19
Q
Briefly discuss the management of delayed puberty
A
Depends on cause but may include:
- Treat the underlying condition (if present)
- If CDGP, reassure and monitor
- Replacement sex hormones under expert guidance
- Growth hormone supplementation in some conditions such as Turner’s syndrome
20
Q
State some examples of developmental screening/assessment tools
A
- Ages & Stages questionnaire
- Denver developmental assessment and schedule of growing skills
- Bayley and Griffiths
21
Q
What is the role of growth hormone in children?
A
- GHRH stimulates GH release from anterior pituitary, GHIH/somatostatin inhibits GH release from anterior pituitary
- Exerts direct effects as GH; exerts indirect effects as it stimulates production of insulin-like growth factor (also called somatomedins, IGF1 & IGF2) in liver
- GH & IGF stimulates cell production and growth of organs, bones & muscles in children.
*NOTE: in adults GH is important for maintaining muscle & bone mass, healing & repair and modulating metabolism and body composition
22
Q
State some congenital causes of GH deficiency
State some acquired causes of GH deficiency
A
Congenital
- Genetic mutation in GH1 (growth hormone 1) gene
- Genetic mutation in GHRHR (growth hormone releasing hormone receptor) gene
- Empty Sella syndrome (pituitary gland is under-developed or damaged)
Acquired
- Infection
- Trauma
- Surgery
23
Q
GH deficiency can occur in isolation or in combination with other pituitary hormone deficiencies e.g. hypothyroidism, adrenal insufficiency, gonadotrophin deficiencies; what is it called when pituitary does not produce a number of pituitary hormones?
A
Hypopituitarism
24
Q
Describe presentation of GH deficiency in:
- Neonates/at birth
- Infants & children
A
Neonates/at birth
- Micropenis (males)
- Hypoglycaemia
- Severe jaundice
Infants/children
- Poor growth (usually stopping or severely slowing from ages 2-3)
- Short stature
- Slow development of movement & strength
- Delayed puberty
25
Explain why GH deficiency can cause hypoglycaemia in neonates/at birth
GH stimulates glycogenolysis and lipolysis hence deficiency can result in hypoglycaemia
26
What investigations could you do to confirm GH deficiency?
What other investigations may you do aswell?
_To diagnose GH deficiency:_
* **Serum IGF-1**
* **Growth hormone stimulation tests** (measure the response to medications that normally stimulate the release of growth hormone e.g. glucagon, insulin, arginine and clonidine. GH levels are monitored regularly for 2-4 hours after to assess the hormonal response. In GH deficiency there will be a poor response to stimulation. Insulin tolerance test is definitive test for GH-IGF1 axis.
_Others:_
* **Test other deficiencies** e.g. TFTs, cortisol
* **MRI brain** *(structural abnormalities of pituitary or hypothalamus)*
* **X-ray of wrist** to determine bone age & predict final height
* Genetic testing for associated conditions e.g. Turner syndrome, Prader-Willi syndrome
27
Discuss the management of GH deficiency
Managed by paediatric endocrinologist:
* Daily SC injections of GH hormone (somatropin) at bedtine
* Treatment of other associated hormone deficiencies
* Treatment of underlying cause (e.g. if a tumour)
* Close monitoring of height & development
28
What is gigantism?
Condition due to **excess growth hormone in children (before epiphyseal growth plates have fused)** which causes excessive growth in height, muscles & organs making child large for their age.
29
State some signs & symptoms of gigantism
* Tall stature
* Generally large for their age
* Delayed puberty
* Prominent forehead
* Prominent jaw
* Large hands and feet with thick fingers & toes
* Headaches
* Sweating
* Weakness
* Visual disturbances (e.g. double vision or reduced peripheral vision)
30
State some potential causes of gigantism- highlighting most common one
* **Benign pituitary tumour**
* Caused by conditions that may cause pituitary tumour:
* MEN-1
* Carney complex
* McCune-Albright syndrome
* Neurofibromatosis
31
What investigations would you do for gigantism?
* **Plasma IGF1 levels**: *high*
* **Oral glucose tolerance test** (glucose ingestion should lower GH levels): *GH levels not lowered in gigantism*
32
Discuss the management of gigantism in children
* **Surgery to remove tumour**
* Medications
* **Somatostatin analogues** e.g. ocreotide
* **GH receptor antagonist** e.g. pegvisomant
* **Dopamine agonists to block GH release** e.g. bromocriptine
* **Radiation therapy**
33
State some potential complications of gigantism
* Delayed puberty
* Diabetes
* Sleep apnoea
* Hypertension
34
Why is it so important to recognise and treat hypothyroidism in neonates, infants & children?
Thyroxine **important for brain growth** & development therefore hypothyroidism can lead to **problems with neurodevelopment and intellectual disability**
35
What is congenital hypothyroidism?
State 2 potential causes
**Born with underactive thyroid**; can be due:
* **Dysgenesis** (an underdeveloped thyroid)
* **Dyshormonogenesis** (a fully developed thyroid gland that doesn't produce enough hormone)
36
Hypothyroidism in neonates/infants/children can be congenital or acquired; what is congenital hypothyroidism and state two potential causes/reasons.
How many babies born with congenital hypothyroidism per year?
**Born with underactive thyroid**; can be due:
* **Dysgenesis** (an underdeveloped thyroid)
* **Dyshormonogenesis** (a fully developed thyroid gland that doesn't produce enough hormone)
*\*around 1 in 3500 babies born with congenital hypothyroidism in UK*
37
Congenital hypothyroidism is screened for on the newborn blood spot screening test; however, if it is not picked up at birth how may it present?
* Prolonged neonatal jaundice
* Poor feeding
* Constipation
* Increased sleeping
* Reduced activity
* Slow growth & development
*\*\*NOTE: test measures TSH and/or thyroxine (T4). If baby is born early may not make enough TSH to give an out of range result so may not be diagnosed on blood spot screening test*
38
What is acquired hypothyroidism?
What is the most common cause? State some other causes.
* **Child or adolescent develops underactive thyroid when it was previously functioning normally**
* **Most common cause= autoimmune hypothyroidism** (Hashimoto's thyroiditis). Other causes: iodine deficiency (developing world), post total-body irradiation (e.g. if treated for leukaemia)
*\*There is an association with other autoimmune disorders e.g. T1DM, coeliac*
39
Describe typical presentation of hypothyroidism in children & adolescents
* Fatigue/low energy
* Poor growth
* Weight gain
* Constipation
* Dry skin
* Hair loss
* Poor school performance (impaired concentration)
40
Discuss the management of hypothyroidism in children
**Levothyroxine once a day** *(doses titrated based on TFTs and symptoms). Managed by a paediatric endocrinologist.*
41
What investigations would you do in a child with hypothyroidism?
* **Full TFTs** (TSH, T3, T4)
* **Thyroid antibodies** (antithyroid peroxidase & antithyroglobulin)
* **Thyroid ultrasound**
42
State some potential consequences of untreated hypothyroidism in neonates/infants/children
* Can lead to cretinism
* Mental retardation
* Deafness
* Short stature
* Anaemia
* Heart failure
43
Hyperthyroidism isn't very common in children. The majority of cases of hyperthyroidism in children are caused by…?
**Most common= Grave's disease** (\>95%)
Other causes:
* Subacute thyroiditis
* McCune Albright syndrome
* Toxic adenoma
*\*NOTE; symptoms, signs, investigation & management is same as for adults*
44
Where do people in UK get most of vitamin D from?
**Sun (80-90%)**
Remainder from diet
45
State some risk factors for vitamin D deficiency in children
* Low or no exposure to sun
* Darker skin pigmentation
* Exclusively breastfed babies from birth
* Infants \>6months taking \<500mL formula milk per day
* Malabsorption disorder
* Severe liver disease
* ESRF
46
Discuss the management of vitamin D deficiency
* Advise on **safe sunlight exposure**
* Advise on **dietary sources of vitamin D** *(e.g. oily fish, fortified cereals, egg yolk)*
* **Supplementation:**
* Advise **daily vitamin supplementation for children aged 1-4yrs**
* Infants **\<1yrs who are breastfed or take \<500mls formula milk per day require supplements** (those who are formula fed do not) AND the **mother also requires supplementation**
* Advise those at **high risk** need supplementation
* Older children may benefit from vitamin D in autumn & winter
* Advise **routine monitoring is not required**
* **Assess need for calcium supplementation**
*\*Referral to paediatrician needed if clinical features of rickets, hypocalcaemia, GI malabsorption disorder causing deficiency, active renal stones or history o frenal stones, medical conditions predisposing to hypercalcaemia*
47
What is rickets?
What is it caused by?
* Rickets= condition affecting children that causes soft and deformed bones; **deficient mineralisation at the growth plate** **of long bones** results in **growth retardation.**
* Caused by **vitamin D or calcium deficiency**
48
There is a rare form of rickets caused by genetic defects that result in low phosphate in blood; what is this called?
Hereditary hypophosphatemic rickets
X-linked dominant
49
s
State some potential complications of vitamin D deficiency
* Rickets
* Seizures (due to hypocalcaemia)
* Osteomalacia in ADULTs
50
What blood test do you do to diagnose vitamin D deficiency and what result indicates vitamin D deficiency?
* Serum 25-hydroxyvitamin D
* \<25nmol/L
51
Explain how we get vitamin D from sunlight
* Vit D created from cholesterol in skin in response to UV radiation; vit D is then activated in the kidneys
52
Discuss the pathophysiology of rickets
* Activated vit D (calcitriol):
* Promotes absorption calcium & phosphate in intestinges
* Increases renal phosphate reabsorption
* Acts on bone to cause release of calcium & phosphate
* Hence, vit D deficiency results in calcium deficiency
* Calcium and phosphate are required for bone construction hence low levels result in defective bone mineralisation
* Low calcium also causes secondary hyperparathyroidism stimulating increased reabsorption of bone
* Leading to soft bones which can then become deformed
53
Pts with vitamin D deficiency and rickets may or may not have symptoms; state some potential symptoms & signs- include specific bone deformities
* Lethargy
* Bone pain
* Muscle weakness
* Poor growth
* Swollen wrists
* Dental problems
* Pathological fractures
Bone deformities:
* **Bowing of legs**
* **Knock knees**
* **Rachitic rosary** *(ends of ribs expand at costochondral junctions causing lumps along chest)*
* **Craniotabes** *(soft skull with delayed closure of sutures & frontal bossing)*
* **Delayed teeth with underdeveloped enamel**
54
What investigation is required to diagnose rickets and what would you see?
* X-ray of a long bone
* Osteopenia (radiolucent bones)
55
Alongside an x-ray of a long bone, what other investigations would you do for a child with suspected Rickets?
_BMJ Best Practice_
* 25-hydroxyvitamin D (calcidiol): *low*
* Calcium: *low in hypocalcaemic rickets and normal in hypophosphataemic*
* Phosphate: *low*
* ALP: *high*
* PTH: *high*
* LFTs: *for liver disease*
* U&Es: *for kidney disease*
_NICE also suggest:_
* TFTs for hypothyroidism
* Malabsorption screen (e.g. coeliac)
* FBC for anaemia
* Ferritin for Fe deficiency
* Inflammatory markers for inflammatory conditions
56
Discuss the management of rickets
Prevention is best management (see vit D prevention FC).
* If child develops vit D deficiency treat with Vitamin D supplement (ergocalciferol)- dose depends on age
* If have features of rickets, refer to paediatrician for vit D and calcium supplementation
57
T1DM may be triggered by certain viruses; state 2
* Coxsackie B
* Enterovirus
58
For insulin remind yourself:
* Where it is made
* Anabolic or catabolic
* How it reduces blood sugar (2 ways)
* Beta cells in Islets of Langerhans in pancreas
* Anabolic
* Reduces blood sugar by:
* Allows cells to absorb glucose to use as fuel
* Causes liver and muscle cells to absorb glucose and store as glycogen
59
For insulin remind yourself:
* Where it is made
* Anabolic or catabolic
* How it reduces blood sugar (2 ways)
* Beta cells in Islets of Langerhans in pancreas
* Anabolic
* Reduces blood sugar by:
* Allows cells to absorb glucose to use as fuel
* Causes liver and muscle cells to absorb glucose and store as glycogen
60
For glucagon remind yourself:
* Where it is made
* Anabolic or catabolic
* How it reduces blood sugar (2 ways)
* Alpha cells in Islets of Langerhans in pancreas
* Catabolic
* Increases blood sugar by:
* Causing liver to break down glycogen into glucose (glycogenolysis)
* Causing liver to convert proteins & fats into glucose (gluconeogenesis)
61
What is ketogenesis?
When liver converts fatty acids into ketones for energy because there is an insufficient supply of glucose and glycogen stores depleted.
62
What % of new type 1 diabetics present in DKA?
How do the rest present
25-50% present in DKA. Remaining children present with classic triad:
* Polyuria
* Polydipsia
* Weight loss
Less typically present with secondary enuresis and recurrent infections.
63
When diagnosing T1DM, the number of tests required depends on whether or not pt is symptomatic; discuss this
* **If symptomatic, only need one abnormal test** *(fasting glucose \>/=7; random glucose \>/=11)*
* **If asymptomatic, need two abnormal re**sults demonstrated on two different occasions
64
What investigations would you do in a child with suspected T1DM?
_Bedside_
* **Urine dipstick**: *glycosuria*
* **Fasting glucose**: *\>/=7mmolL*
* **Random glucose**: *\>/=11mmol/L*
* **Oral glucose tolerance test**: *\>/=11mmol/L*
_Bloods_
* **C peptide**: *low in T1DM*
* Diabetic antibodies:
* **Anti-GAD** (antibodies to glutamic acid decarboxylase) 80%
* **ICA** (islet cell antibodies) 70-80%
* **IAA** (insulin autoantibodies) 90% of young children
* **IA-2A** (insulin associated 2 autoantibodies)
* **Anti-TTG:** *test for coeliac*
* TFTs: *test for associated hypothyroidism*
* **Thyroid peroxidase antibodies**: *test for associated autoimmune hypothyroidism*
65
Briefly outline the management of diabetes
* Patient education
* Monitoring dietary carbohydrate intake
* Monitoring blood glucose levels
* SC insulin
* Monitoring for & managing complications
*\*see Yr3 medicine for more info on insulin types. Same as adults.*
66
For insulin pumps, discuss:
* What they are
* How they work
* Who can qualify for one
* Advantages & disadvantages
* Two different types
* Small devices that continually infuse insulin at different rates to control blood sugars (alternative to basal bolus regime)
* Pump infuses insulin through SC cannula which is replaced every 2-3 days (site rotated to prevent lipodysrophy)
* To qualify: \>12yrs and have difficulty controlling HbA1c
* Advantages: better glucose control, more flexibility with eating, less injections
* Disadvantages: have to learn to use pump, attached all time, blockages in infusion set, risk of infection
* Types:
* _Tethered:_ devices with replaceable infusion sets & insulin. Control on pump
* _Patch pumps:_ sit directly on skin without any visible tubes; when they run out of insulin who pump is disposed of and new one attached. Control on separate remote.
67
Remind yourself of potential long term complications of diabetes (macrovascular, microvascular & infection related)
_Macrovascular Complications_
* ***Coronary artery disease*** is a major cause of death in diabetics
* Peripheral ischaemia causes poor healing, ulcers and “***diabetic foot***”
* Stroke
* Hypertension
_Microvascular Complications_
* ***Peripheral neuropathy***
* ***Retinopathy***
* Kidney disease, particularly ***glomerulosclerosis***
_Infection Related Complications_
* Urinary tract infections
* Pneumonia
* Skin and soft tissue infections, particularly in the feet
* Fungal infections, particularly oral and vaginal ***candidiasis***
68
How often do we measure HbA1c in children with T1DM?
Every 3 months
69
State some potential causes of DKA
* First presentation diabetes
* Infection
* Missed insulin doses/poor compliance
70
What is the diagnostic criteria for DKA?
* **Hyperglycaemia:** \>11mmol/L
* **Ketonemia:** blood ketones \>3mmol/L or ++ on urinalysis)
* **Acidosis:** ph \<7.3 or HCO3- \<15mmol/L
71
What are the most dangerous aspects of DKA (i.e. the things that will kill the pt)?
* Dehydration
* K+ imbalance
* Acidosis
72
Remind yourself of pathophysiology of DKA
* *Insulin usually drives K+ into cells so get hyperkalaemia.*
73
State some signs & symptoms of DKA
* Polyuria
* Polydipsia
* Nausea & vomiting
* Abdominal pain
* Altered consciousness
* Acetone smell to breath
* Signs dehydration
* Kussmaul breathing/deep hyperventilation
* May be signs of underlying trigger e.g. sepsis
74
Discuss the management of DKA in children
Follow local treatment protocols & involve senior paediatricians:
_Specific management of DKA_
* **Correct dehydration over 48hrs** (complex formulas which calculates deficit and maintenance)
* **Fixed rate insulin infusion** (based on glucose & ketones)
* **May need to replace potassium**. Monitor serum potassium closely
* T**reat underlying triggers** e.g. abx for sepsis
_General Management_
* Hourly blood glucose
* 1-2hrly blood ketones
* Blood gas 2hrly
* Hourly fluid input & output
* Neurological status at least hourly (monitoring for cerebral oedema)
* Electrolytes 2 hourly after start of IV therapy then 4 hourly
* A, B, C, D, E; Vital signs, ECG, BP
* NBM – regular mouth care
75
State some potential complications of DKA
* Cerebral oedema
* Dehydration
* Hyperkalaemia leading to arrhythmias (may go to hypokalaemia when corrected ‘iatrogenic hypokalaemia’)
* Thromboembolism
* AKI
76
Explain how cerebral oedema can develop when giving fluids to treat DKA
* Dehydration & high plasma osmolarity (due to hyperglycaemia) causes water to move from ICS to ECS
* Causes brain cells to become dehydrated & shrink
* Rapid correction of dehydration & hyperglycaemia can cause rapid shift in water from ECS to ICS in the brain cells
* Causing brain to swell and become oedematous
* Can lead to brain cell destruction & death
77
State some signs of cerebral oedema
When does it usually occur?
* Agitation or irritability
* Headache
* Bradycardia
* Increase in BP
* Reduced GCS/consciousness
Usually occurs **4-12hrs** following initiation of treatment but can present at any time. **Children/young adults are especially vulnerable!**
78
If you suspect cerebral oedema, what investigation should you do?
CT head
79
What investigation would you do if you suspect cerebral oedema?
CT head
80
Discuss the management of cerebral oedema
* Slowing of IV fluids
* IV mannitol
* IV hypertonic saline
81
What is the inheritance pattern of congenital adrenal hyperplasia?
Autosomal recessive
82
Discuss pathophysiology of congenital adrenal hyperplasia
* **Congenital deficiency of 21-hydroxylase enzyme** (in some cases causes deficiency of 11-beta hydroxylase instead)
* 21-hydroxylase is involved in production of cortisol & aldosterone from progesterone
* Hence get **underproduction of cortisol & aldosterone**
* Get **overproduction of androgens** as cortisol & aldosterone as ‘extra’ progesterone is converted into **testosterone** instead (as this doesn't use21 hydroxylase enzyme)
83
Congenital adrenal hyperplasia presents differently dependent on whether there is severe or mild deficiency.
Describe typical presentation in severe cases of CAH
* **Females present with ambiguous genitalia/virilised genitalia & enlarged clitoris**
* Poor feeding
* Vomiting
* Dehydration
* Arrhythmias
* **Hyponatraemia**
* **Hyperkalaemia**
* **Hypoglycaemia**
84
Congenital adrenal hyperplasia presents differently dependent on whether there is severe or mild deficiency.
Describe typical presentation in **mild cases of CAH** ***(think about differences for females & males)***
_Both_
* **Tall for age**
* **Deep voice**
* **Early puberty**
* **Hyperpigmentation** *(due to increased ACTH. By-product of ACTH is MSH which then stimulates production of melatonin in skin cells)*
_Females_
* **Facial hair**
* **Absent periods**
_Males_
* **Large penis**
* **Small testicles**
85
Discuss the management of congenital adrenal hyperplasia
* **Close monitoring of growth & development** by paediatric endocrinologist
* **Cortisol replacement** (usually hydrocortisone)
* **Aldosterone replacement** (usually fludrocortisone)
* Females with **virilised genitals may require corrective surgery**
86
Presentation, investigations & management of T2DM in children is similar to adults (metformin)
87
Remind yourself of some causes of neurogenic diabetes insipidus
*\*Remember: cranial/neurogenic is decreased ADH secretion from posterior pituitary*
* idiopathic
* post head injury
* pituitary surgery
* craniopharyngiomas
* histiocytosis X
* DIDMOAD is the association of cranial Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (also known as Wolfram's syndrome)
* haemochromatosis
88
Remind yourself of some causes of nephrogenic diabetes insipidus
* genetic: the more common form affects the vasopression (ADH) receptor, the less common form results from a mutation in the gene that encodes the aquaporin 2 channel
* electrolytes: hypercalcaemia, hypokalaemia
* lithium (desensitizes the kidney's ability to respond to ADH in the collecting ducts)
* tubulo-interstitial disease: obstruction, sickle-cell, pyelonephritis
89
What investigations would you do for diabetes insipidus?
* Plasma osmolarity: high
* Urine osmolarity: low
* Water deprivation test: *pt should avoid fluids for 8hrs; then urine osmolarity is measured (would expect it to be high but in DI it is low). Then give desmopressin (synthetic ADH) and measure urine osmolarity again 8hrs later.*
90
Discuss management of diabetes insipidus
* Mild cases can be managed conservatively without intervention
* Treat underlying cause if possible
* Desmopressin can be used in cranial/neurogenic DI (may be used in higher doses under close monitoring for nephrogenic DI)
91
Remind yourself of pathophysiology of:
* Primary adrenal insufficiency/Addison's
* Secondary adrenal insufficiency
* Tertiary adrenal insufficiency
* Primary adrenal insufficiency/Addison's: ***adrenal glands are damaged**; most common cause is autoimmune.*
* Secondary adrenal insufficiency: ***inadequate ACTH**; may be due to loss or damage to pituitary (infection, ischaemia, surgery) or congenital hypoplasia of pituitary*
* Tertiary adrenal insufficiency: ***inadequate CRH** usually as a result of long term steroids (\>3/52) causing suppression of hypothalamus*
92
State some clinical features of adrenal insufficiency in babies
* Lethargy
* Vomiting
* Poor feeding
* Hypoglycaemia
* Jaundice
* Failure to thrive
93
State some features of adrenal insufficiency in older children
* Nausea and vomiting
* Poor weight gain or weight loss
* Reduced appetite (anorexia)
* Abdominal pain
* Muscle weakness or cramps
* Developmental delay or poor academic performance
* Bronze hyperpigmentation to skin in Addison’s caused by high ACTH levels. ACTH stimulates melanocytes.
94
What investigations should you do for suspected adrenal insufficiency?
* Plasma glucose: *cortisol deficiency hence may be low glucose*
* U&Es: *hyponatraemia and hyperkalaemia due to aldosterone deficiency*
* Cortisol
* ACTH
* Aldosterone
* Renin
* **Short synacthen test**
95
Explain how short synacthen test works
* Ideally do in morning
* Measure baseline plasma cortisol
* Give synacthen (synthetic ACTH) via IM injection
* Measure plasma cortisol 30minutes after
* If cortisol level fails to double, then indicates primary adrenal insufficiency
96
Discuss the management of adrenal insufficiency
* Hydrocortisone to replace cortisol
* Fludrocortisone to replace aldosterone *(if aldosterone also decreased)*
* Give steroid alert card
* Advise on steroid use during illness, extreme exercsise, heat etc…
* Follow up & monitorin gof:
* Growth & development
* U&Es
* Glucose
* BP
* Bone profile *(steroids)*
* Vit D *(steroids)*
97
What are the sick day rules for taking steroids?
* Increase steroids
* Ensure eating regular meals and regularly monitor blood sugar
* If have diarrhoea or vomiting, need IM injection or admission for IV steroids
98
What is an Addisonian/adrenal crisis?
How does it present?
What is the management?
* Acute presentation of severe adrenal hormone deficiency. May be first presentation of adrenal insufficiency or due to infection, trauma etc.. may also be due to abrupt withdrawal of steroids.
* Presentation:
* Reduced consciousness
* Hypotension
* Hypoglycaemia
* Hyponatraemia
* Hyperkalaemia
* Management:
* IV steroids (e.g. hydrocortisone)
* IV fluids
* Correct hypoglycaemia
* Intensive monitoring (including monitoring of electrolytes & fluid baalnce)
98
What is an Addisonian/adrenal crisis?
How does it present?
What is the management?
* Acute presentation of severe adrenal hormone deficiency. May be first presentation of adrenal insufficiency or due to infection, trauma, surgery etc.. may also be due to abrupt withdrawal of steroids.
* Presentation:
* Reduced consciousness
* Hypotension
* Hypoglycaemia
* Hyponatraemia
* Hyperkalaemia
* Management:
* IV steroids (e.g. hydrocortisone)
* IV fluids
* Correct hypoglycaemia
* Intensive monitoring (including monitoring of electrolytes & fluid baalnce)
99
Discuss how you can use the size of a boy's testes to estimate the cause of precocious puberty
Males - uncommon and usually has an organic cause
Testes
* bilateral enlargement = gonadotrophin release from intracranial lesion
* unilateral enlargement = gonadal tumour
* small testes = adrenal cause (tumour or adrenal hyperplasia)
Females - usually idiopathic or familial and follows normal sequence of puberty
Yr4: Child Health
flashcards
Decks in class (21)
# Cards
-
Community Paediatrics66
-
Child Development85
-
Safeguarding & Law20
-
Endocrinology100
-
Respiratory 191
-
Respiratory 248
-
ENT45
-
Cardiology121
-
Paediatric Emergencies36
-
Neurology90
-
Infectious Diseases92
-
Gastroenterology59
-
Surgery111
-
Haematology/oncology85
-
Neonatology132
-
Musculoskeletal/Rheumatology107
-
Renal & Urology57
-
Immunology42
-
Paediatric History & Examination19
-
Genetics57
-
Dermatology80
