Growth and Endocrine Flashcards
Factors influencing height
Age Sex Race Nutrition Parental heights Puberty Skeletal maturity (bone age) General health chronic disease specific growth disorders socio-economic status emotional well being
Measurement techniques
Sitting height
Head circumference
Who Is head circumference routine in?
< 2 y /o
Where do you put the tape in head circumference?
Tape around forehead and occipital prominence (maximal circumference)
Assessment tools of growth
Height Length weight growth charts and plotting MPH and target centiles Growth velocity Bone age Pubertal assessment
Indications for referral in growth disorders
Extreme short or tall stature (off centiles)
Height below target height
Abnormal height velocity (crossing centiles)
History of chronic disease
Obvious dysmorphic syndrome
Early/late puberty
Common causes of short stature
Familial
Constitutional
SGA/IUGR
Pathological causes of short stature
Undernutrition Chronic illness (JCA, IBD, coeliac) Iatrogenic (steroids) Psychological and social Hormonal (GHD, hypothyroidism) Syndromes (turner, P-W)
What test would you do to look for turners syndrome?
Karyotype
What tests would you do to look out for hormonal disorders?
IGF-1
TFT
prolactin
Cortisol (gonadotrophins and sex hormones)
What tests do FBC and ferritin look at?
General health
coeliac disease
chrons
JCA
Staging of puberty; the tanner method
B - 1-5 = breast development G - 1 - 5 = genital development PH - 1-5 pubic hair AH - 1-3 = axillary hair T - 2 ml to 20ml SO - e.g. statement as B3 PH3 or G2 PH2 6/6
What is used to look at testicular maturation?
Prader orchidometer
When is early development in boys and is it common or rare?
< 9 years
Rare
When is delayed development in boys and is this common?
> 14 years
common, esp CDGP
When is early development in girls?
< 8 years
When is delayed development in girls and is this common?
> 13 y/o
rare
What does CDGP stand for?
Constitutional delay of growth and puberty
Who mainly gets CDGP?
Boys
Features of CDGP
FH in brothers or dads (difficult to obtain)
Bone age delay
What do you need to exclude in CDGP?
Organic disease
Causes of delayed puberty
CDGP
Gonadal dysgenesis (turner 45X, Klinefelter 47 XXY)
Chronic disease (crohn’s, asthma)
Impaired HPG axis (septo-optic dysplasia, craniopharyngioma, kallmans syndrome)
Peripheral (cryptorchidism, testicular irridation)
Presentation of early sexual development
Breast development Secondary sexual characteristics PV bleeding (early menarche)
Causes of early sexual development
Hypothalamic activation
Sex steroid hormone secretion
Presentation of central precocious puberty
Pubertal development - breast development in girls - testicular enlargement in boys Growth spurt Advanced bone age
What do you need to exclude with central precocious puberty?
Pituitary lesion with an MRI
What is central precocious puberty?
Early sexual development
What is precocious pseudopuberty?
Abnormal sex steroid hormone secretion leading to partial pubertal development
Pathology of precocious pseudopuberty
Gonadotrophin independent
Low/prepubertal levels of LH and FSH
What do you need to exclude in precocious pseudopuberty?
Congenital adrenal hyperplasia
Management of ambiguous genitalia
Do not guess
Exam of gonads and internal organs
Karyotype
In ambigious genitalia what do you have to exclude and why?
Congenital adrenal hyperplasia
Risk of adrenal crisis in first 2 weeks of life
Causes of congenital hypothyroidism
Athyreosis / hypoplastic / ectopic
Dyshormonogenic
When should treatment for congenital hypothyroidism be started?
Within first 2 weeks
Most common cause of acquired hypothyroidism
Autoimmune (hashimotos) thyroiditis
Childhood issues of hypothyroidism
lack of height gain
pubertal delay (or precocity)
poor school performance (but work steadily)
Assessment of obesity
weight BMI height waist circumference skin folds history and exam complications
Obese + what is abnormal?
Short
Some Complications of obesity
Fatty liver diseases Repro dysfunction e.g. PCOS Pancreatitis injuries Stress incontinence LVH atherosclerotic CV disease Pancreatitis nutritional deficiencies
Causes of obesity
Simple obesity drugs syndromes endocrine disorders hypothalamic damage
What is simple obesity?
Intake exceeds activity
Treatment of obesity
Diet
Exercise
Psychological input
What is the most common cause of obesity?
Simple obesity
Endocrine causes of obesity would also have signs of…..
Growth failure
Syndrome causes of obesity would also have signs of ……
LDs
Hypothalamic causes of obesity causes signs of…..
loss of appetite control
Symptoms of T1DM in children (the 4Ts)
thirsty
thinner
tired
using toilet more
What test to do and what result indicates T1DM in children?
Finger prick capillary glucose test
result > 11 mol/l
What is a red flag symptom for diabetes?
A return to bedwetting or day wetting in a previously dry child
Indicators of DM in children < 5 y / o
Heavier than usual nappies blurred vision candidiasis (oral, vulval) constipation recurring skin infections irritability, behaviour change
Symptoms of DKA
Nausea Vomiting Abdominal pain Sweet smelling ketotic breath drowsiness Dehydration > 5% rapid, deep "sighing" respiration - hyperventilation coma
Test if suspect DKA
Serum blood ketones > 3 VBG CBG finger prick capillary blood glucose test - > 11mol/l
Investigations if suspect DM
Finger prick blood glucose
Same day review with paediatrician
What value of Finger prick blood glucose indicates DM?
> 11
What is another name for psychogenic polydipsia?
Habitual drinking
Features of habitual drinking vs DM symptoms
Habitual drinking - drink then pee
DM - Pee then drink as compensating
Why in DKA do children have abdominal pain and vomiting?
GI upset
Trying to get rid of the acid
What drives the acidosis in DKA?
Ketones
Biochemical features of DKA
Hyperglycaemia > 11 Ketosis (blood / urine) Blood ketones > 3 Acidosis - ph < 7.3 - HCO3 <15mmol/L
What type of blood gases aren’t done in children?
Arterial (ABG)
Treatment of DKA
ABCDE IV fluids by bolus (+sugar to the fluid) - resus 10ml/kg 0.9% saline) - maintenance + deficit 0.9% saline + dex + K+ IV insulin (1 hour after fluids) - 0.1u/kg/h (no bolus) - never stop infusion unless SC started Prevent cerebral oedema
What must be avoided in the treatment of DKA?
BICARBONATE
Who has the highest risk of cerebral oedema in DKA?
Late teens - early 20s
Why do we check the electrolytes in DKA?
Vomiting
Giving fluids
Giving insulin brings down your K+
Monitoring in DKA
BG hourly Ketones hourly Electrolytes 4 hourly Gases 4 hourly Basic obs Fluid input / output Neuro obs ECG Weight Behavioural change / headache
Presentation of cerebral oedema
Headache +/- vomiting
Irritability
Reduced consciousness level
Signs of increased ICP
What % of DKA episodes have cerebral oedema?
1%
Management of cerebral oedema
Exclude hypoglycaemia Call for help MANNITOL 1g/kg IMMEDIATELY Fluid restriction Elevate head end of bed Consider ITU CT scan
Examples of short acting insulins
Novorapid
Humalog
Actarapid
Examples of long acting insulins
Glargine / lantus
Detemir / Levemir
Example of a intermediate acting insulin
Insulatard
Example of a mixed insulin
Novomix 30
When would your long acting insulins be given?
Same time every day as provide 24 hour cover
When are your short acting insulins given?
Before every meal
What does the dose of the short acting insulin depend on?
CHO load of meal
BG
What does the continuous subcutaneous insulin infusion allow?
Very small amounts of insulin to be delivered
Flexibility with activity and meals
Where are the normal injection sites in children?
Buttocks
Thighs
Abdomen
What is the commonest cause of polydipsia and polyuria in children?
Habitual drinking
What must be excluded before diagnosing habitual drinking?
UTI
DM
Management of habitual drinking
Offer only water (especially at night) Milk 500ml/day Decrease amounts of flavoured/sweetened fluid Re offer meals if not taken Avoid sugar based foods
Presentation of central diabetes insipidus
Polyuria Polydipsia - may include "odd fluids" if cannot access normal ones May not have nocturnal eneuresis Well otherwise Glucose / urine normal (but dilute)
Pathology of central DI
Deficient secretion of ADH by pituitary gland
Causes of central DI
Brain abnormality in neonatal period
Brain tumour or brain injury in older group
Investigations of central DI
MRI
Treatment of Central DI
ADH analogue - desmopressin (DDAVP)
Presentation of nephrogenic DI
Primary nocturnal eneuresis (never dry at night)
Polydipsia
- preferring water
- older child
May have tried desmopressin for NE but no effect
Mother may also drink 6 - 7L per day
Pathology of nephrogenic DI
Defective or absent ADH receptor sites
Defective or absent aquaporin - trasports water at collecting duct
Treatment of nephrogenic DI
Indomethacin
Hydrocholorthiazide
Amiloride
Is diabetes insipidus common?
No
What karyotype is associated with kleinfelters?
47, XXY
Presentation of Kleinfelters syndrome
Taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia (increased incidence of breast ca)
ELEVATED gonadotrophins
Diagnosis of Kleinfelters is done by what?
Chromosomal analysis
What is Kallmans syndrome a recognised cause of?
Delayed puberty secondary to hypogonadotrophic hypogonadism
Inheritance of Kallmans syndrome
X linked recessive
Pathology of kallmans syndrome
Failure of GnRH secreting neurones to migrate to the hypothalamus
What would be the clues in many questions for kallmans syndrome?
Anosmia in a boy with lack of puberty
Presentation of kallmans syndrome
Delayed puberty Hypogonadism Cryptorchidism Anosmia Sex hormones LOW LH and FSH levels are inappropriately LOW/NORMAL Typical normal or above average height Possibly - cleft lip / palate - visual / hearing deficits
Inheritance of androgen insensitivity syndrome
X linked recessive
Pathology of androgen insensitivity syndrome
End organ resistance to testosterone causing genotypically male children (46XY) to have the female phenotype.
Another name for complete androgren insensitivity syndrome
Testicular feminisation syndrome
Presentation of androgen insensitivity syndrome
Primary amenorrhea
Undescended testis causing groin swellings
Breast development may occur (due to conversion of testosterone to oestrogen)
Diagnosis of androgen insensitivity syndrome
Buccal smear or chromosomal analysis to reveal 46XY chromosome
Management of androgen insensitivity syndrome
Raise child as female
Bilateral orchidectomy
Oestrogen therapy
Why would you do a bilateral orchidectomy in androgen insensitivity syndrome?
Increased risk of testicular cancer due to undescended testis
