Growth, puberty etc Flashcards
Autosomal dominent affected parent + healthy parent; child risk?
50%
XLR: female carrier + healthy male produce (in theory):
1 in 4 affected male
1 in 4 healthy male
1 in 4 carrier female
1 in 4 healthy female
(half of boys are affected; half of girls are carriers)
XLR: female normal and affected male produce (in theory):
50% healthy male
50% carrier female
XLR hallmark?
Only males affected (normally)
Male to male transmission with no females affected?
XLR
Affected children to unaffected parents?
AR if more than one occurrance (could be a new mutation in AD or skipping generations otherwise)
Describe puberty mechanism
GnRH generator initially dormant; HPG axis is dormant; LH, FSH, oestrogen and testosterone are undetectable
GnRH generator begins to pulse a few years before puberty, then FSH rises, and LH rises, until a point when…
Gonadarche occurs (sex organs grow; testes or ovaries) and secrete sex steroids leading to change in sexual characteristics
How does growth end?
Oestrogen closing the growth plates
Order of puberty in boys / girls?
Girls = TAGME (and top to bottom)
Thelarche (gonadarche)
Adrenarche
Growth
MEnarche
Boys = bottom to top with growth in the other place
Gonadarche
Growth
Adrenarche
How do you calculate THR?
Boys = D+(M+13)/2 +/- 8.5 Girls = M+(D-13)/2 +/- 8.5
What is the likely cause of first year “abnormal growth”?
Catch up / catch down growth
What are the effects of GH on the liver?
Increased collagen / protein synthesis
Calcium, phosphorus, nitrogen (anabolics) retention
Promotes glucose usage (prevents storage; opposes insulin)
What has a positive effect on GH release?
GHRH (from htlms)
Stress
Exercise
What has a negative effect on GH release?
Somatostatin
Hyperglycaemia
Precocious puberty with Cafe au Lait?
Mccune Albright syndrome (GIPP [low FSH/LH])
Precocious puberty with anosmia?
Kallmans (GIPP)
Precocious puberty with visual field defects?
Kallmans (GIPP)
Precocious puberty with midline defects or cleft palate?
Kallmans (GIPP)
Precocious puberty with salt wasting?
CAH
Central precocious puberty with CNS involvement e.g. headaches and seizures?
Tumour, trauma
CPP with visual defects e.g. homonomous hemianopia
Pituitary tumour
What testicular volume suggests puberty?
> 3mL
Short stature caused by constitutional delay of growth and puberty:
Familial link?
Growth pattern?
Bone age?
Remarks?
CD:
- Yes
- Slow or normal; crossing centiles at puberty otherwise fine but low in %
- Delayed
Short stature caused by familial short stature
Familial link?
Growth pattern?
Bone age?
Remarks?
FSS:
- Strong familial link
- Normal growth; not crossing centiles
- Bone age normal
Short stature caused by GH insuffiency:
Familial link?
Growth pattern?
Bone age?
Remarks?
GH insufficiency:
- Unlikely familial link
- Crossing centiles; low height for weight; below THR
- Marked delay bone age
- Overweight probably; delayed puberty probably
Short stature caused by hypothyroidism:
Familial link?
Growth pattern?
Bone age?
Remarks?
Hypothyroidism:
- Familial link possible
- Slow growth; crossing centiles; below THR
- Delayed bone age
- Commonly presents around 6/12 old
- Short and overweight
- Hair loss; bradycardia; TATT
- Delayed puberty
Short stature caused by malabsorption:
Familial link?
Growth pattern?
Bone age?
Remarks?
Malabsorption:
- Familial link possible e.g. IBD
- Crossing centiles; weight falls before height
- Delayed bone age
- Thin child; evidence of malnourishment, diarrhoea
- Delayed puberty
What are the common causes of crossing centiles downward (pathological)
Hypothyroidism
Inadequate growth hormone secretion
Hypogonadotropic hypogonadism
Hypergonadotropic hypogonadism
What are the common causes of short height without crossing centiles?
IUGR
CDGP
FSS
Mild chronic disease
What are the common causes of weight
Malabsorption
Chronic disease
Decreased calorie intake (e.g. maternal bond etc)
What clinical features are you looking for in examination of short stature
GHEN
Genetics: syndromes e.g. dysmorphic features
Hormones: pubertal status, thyroid function
Environment: signs of neglect
Nutrition: undernutrition
Signs of fetal alcohol syndrome?
Smooth philtrum Epicanthal folds Railroad track ears Narrow eyes Short stature
Signs of noonan syndrome?
Ptosis Wide distance between the eyes Short broad nose Low hairline at back Webbed neck Pectus excavatum Short stature
Linked with heart defects
Commonly called male turner syndrome! (but can affect F also)
Signs of prader willi?
Trouble feeding as baby Hypotonia Learning difficulties Insatiable hunger -> obesity Short Delayed puberty
Signs of russell silver syndrome?
Small jaw Downturned corners of mouth Small triangle face Normal size head so seems large Poor appetite Dwarfism
Signs of downs syndrome?
Small chin Slanted eye Large tongue Brushfield spots Single palmar crease Short stature
Karyotype of Turners?
45,X
Klinefelters karyotype?
47,XXY
What is the PP of CMP intolerance?
Type I IgE mediated reaction to CMP causing histamien release
or
T cell mediated reaction but that takes 2-7d post ingestion
What is the epidemiology of CMP intolerance?
Most outgro by 3-5yr
Family hx
Atopic comorbidities common
Symptoms of CMP intolerance?
GIT: N&V, colic
Skin: pruritis, urticaria
Resp: cough, runny nose, wheezing
Diagnosis of CMP intolerance?
Skin prick or specific IgE AB blood test
Trial exclusion / breast only for 2-6w
Management of CMP intolerance?
- Strict exclusion is gold standard
- Partially hydrolysed formula + 120% for CuG
- Milk challenges
What is an example of natural passive immunity?
Mother to child IgA
What is an example of induced passive immunity?
Ig injection
What is an example of natural active immunity?
Encountering an infection
What is an example of induced active immunity?
Vaccination
Signs and symptoms of congenital rubella syndrome?
- Breathlessness (e.g. after feeding)
- Weight low for length
- Palpable prominent pericordial impulse
- Machinery like continuous murmur if PDA
- Tachycardia
- CTR>0.5
- Easy to palpate femoral pulses if PDA
Risk factors for congenital rubella syndrome?
- Smoking in pregnancy (cause placental insufficiency)
- Virus during pregnancy
Investigations / management of CRS?
ECG
Echo
Rubella IgM
Diuretics
Nutrition (high cal milk, NGF)
Coil occlusion
Surgery - clip
What are the risks of CRS?
Commonly associated with PDA and other heart defects
Arterial HTN with low blood pressure in the lower limbs? + FTT, feeding problems etc
Coarctation of the aorta
Aorta narrows at level of ductus arteriosus
SOB FTT Anorexia Syncope Chest pain TATT Fatigue Headaches ARTERIAL HTN WITH LOW BP IN LEGS -> WEAK FEMORAL PULSES
Cyanotic without heart murmur?
Transposition of the great arteries
Abnormal arrangement of GAs e.g. PA, aorta
Cyanosis SOB Anorexia Low weight for length No heart murmur
Remember CT: cyanotic = T (TGA or ToF)
Cyanosis with heart murmur, clubbing?
Tetralogy of Fallot
Four anatomical abnormalities of which 3 are always present Right to left shunt Decreased O2 with cyanosis Heart murmur FTT feeding difficulties CLUBBING "Tet spells" - cyanosis spell followed by syncope -> brain damage and death
Remember CT: cyanotic = TGA or ToF… with murmur = ToF
Diagnosis of CF?
Newborn screening: Guthrie heel prick
Carrier testing: mouthwash
Sweat test: increased NaCl
Genetic: swab in cheek
PP of CF?
Abnormal CFTR = decreased Cl reabsorption
Common presentations of CF
Born with meconium ileus
Cough Chest infetions Prolonged diarrhoea (malabsorption due to panc) DM - panc endoc Irregular menstrual cycles
6 month old with diarrhoea and colic pains
Coeliac
Usually presents at weaning (around 6 months)
Diagnosis of coeliac?
TTG IgA
Decreased bone age on exam suggests?
GH or TH decrease
Klinefelters
47XXY
Gynacomasteia Small genitals Wide hips Weaker muscles TALL
Homocystinuria
Tall Valgus Learning difficulties Seizures Eye problems
Need low protein diet
Marfans
Tall
CT disorder - aorta / heart problems
Autosomal dominent
What immunoglobulins are in colostrum?
IgA IgG IgM
Physiological weight loss?
10% by day 5
Put back by day 10-14
How many wet nappies a day?
6-8 by day 4
PT & APTT?
Raised at birth by 2x for 48h
Routine vit K at birth
Why physiological anaemia?
Placenta -> lung ox -> increased o2 sat -> massive decrease in EPO until Hb around 9 by 5-8w
Why physiological jaundice? Tx?
Short RBC lifespan
High Hb load
Immature liver enzymes
10% need phototherapy for unconj bilirubin or risk of kernicterus
Benign and transient rash in 50% of infants?
Erythema toxicum
Retain secretions in follics of nose?
Milia
Superficial capillary hemangioma from the neck up?
Stok marks
