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Growth, puberty etc Flashcards

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1
Q

Autosomal dominent affected parent + healthy parent; child risk?

A

50%

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2
Q

XLR: female carrier + healthy male produce (in theory):

A

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)

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3
Q

XLR: female normal and affected male produce (in theory):

A

50% healthy male

50% carrier female

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4
Q

XLR hallmark?

A

Only males affected (normally)

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5
Q

Male to male transmission with no females affected?

A

XLR

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6
Q

Affected children to unaffected parents?

A

AR if more than one occurrance (could be a new mutation in AD or skipping generations otherwise)

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7
Q

Describe puberty mechanism

A

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

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8
Q

How does growth end?

A

Oestrogen closing the growth plates

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9
Q

Order of puberty in boys / girls?

A

Girls = TAGME (and top to bottom)

Thelarche (gonadarche)
Adrenarche
Growth
MEnarche

Boys = bottom to top with growth in the other place

Gonadarche
Growth
Adrenarche

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10
Q

How do you calculate THR?

A 
Boys = D+(M+13)/2 +/- 8.5
Girls = M+(D-13)/2 +/- 8.5
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11
Q

What is the likely cause of first year “abnormal growth”?

A

Catch up / catch down growth

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12
Q

What are the effects of GH on the liver?

A

Increased collagen / protein synthesis
Calcium, phosphorus, nitrogen (anabolics) retention
Promotes glucose usage (prevents storage; opposes insulin)

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13
Q

What has a positive effect on GH release?

A

GHRH (from htlms)
Stress
Exercise

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14
Q

What has a negative effect on GH release?

A

Somatostatin

Hyperglycaemia

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15
Q

Precocious puberty with Cafe au Lait?

A

Mccune Albright syndrome (GIPP [low FSH/LH])

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16
Q

Precocious puberty with anosmia?

A

Kallmans (GIPP)

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17
Q

Precocious puberty with visual field defects?

A

Kallmans (GIPP)

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18
Q

Precocious puberty with midline defects or cleft palate?

A

Kallmans (GIPP)

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19
Q

Precocious puberty with salt wasting?

A

CAH

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20
Q

Central precocious puberty with CNS involvement e.g. headaches and seizures?

A

Tumour, trauma

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21
Q

CPP with visual defects e.g. homonomous hemianopia

A

Pituitary tumour

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22
Q

What testicular volume suggests puberty?

A

> 3mL

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23
Q

Short stature caused by constitutional delay of growth and puberty:

Familial link?
Growth pattern?
Bone age?
Remarks?

A

CD:

  • Yes
  • Slow or normal; crossing centiles at puberty otherwise fine but low in %
  • Delayed
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24
Q

Short stature caused by familial short stature

Familial link?
Growth pattern?
Bone age?
Remarks?

A

FSS:

  • Strong familial link
  • Normal growth; not crossing centiles
  • Bone age normal
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25
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
26
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
27
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
28
What are the common causes of crossing centiles downward (pathological)
Hypothyroidism Inadequate growth hormone secretion Hypogonadotropic hypogonadism Hypergonadotropic hypogonadism
29
What are the common causes of short height without crossing centiles?
IUGR CDGP FSS Mild chronic disease
30
What are the common causes of weight
Malabsorption Chronic disease Decreased calorie intake (e.g. maternal bond etc)
31
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
32
Signs of fetal alcohol syndrome?
``` Smooth philtrum Epicanthal folds Railroad track ears Narrow eyes Short stature ```
33
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)
34
Signs of prader willi?
``` Trouble feeding as baby Hypotonia Learning difficulties Insatiable hunger -> obesity Short Delayed puberty ```
35
Signs of russell silver syndrome?
``` Small jaw Downturned corners of mouth Small triangle face Normal size head so seems large Poor appetite Dwarfism ```
36
Signs of downs syndrome?
``` Small chin Slanted eye Large tongue Brushfield spots Single palmar crease Short stature ```
37
Karyotype of Turners?
45,X
38
Klinefelters karyotype?
47,XXY
39
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
40
What is the epidemiology of CMP intolerance?
Most outgro by 3-5yr Family hx Atopic comorbidities common
41
Symptoms of CMP intolerance?
GIT: N&V, colic Skin: pruritis, urticaria Resp: cough, runny nose, wheezing
42
Diagnosis of CMP intolerance?
Skin prick or specific IgE AB blood test | Trial exclusion / breast only for 2-6w
43
Management of CMP intolerance?
- Strict exclusion is gold standard - Partially hydrolysed formula + 120% for CuG - Milk challenges
44
What is an example of natural passive immunity?
Mother to child IgA
45
What is an example of induced passive immunity?
Ig injection
46
What is an example of natural active immunity?
Encountering an infection
47
What is an example of induced active immunity?
Vaccination
48
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
49
Risk factors for congenital rubella syndrome?
- Smoking in pregnancy (cause placental insufficiency) | - Virus during pregnancy
50
Investigations / management of CRS?
ECG Echo Rubella IgM Diuretics Nutrition (high cal milk, NGF) Coil occlusion Surgery - clip
51
What are the risks of CRS?
Commonly associated with PDA and other heart defects
52
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 ```
53
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)
54
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
55
Diagnosis of CF?
Newborn screening: Guthrie heel prick Carrier testing: mouthwash Sweat test: increased NaCl Genetic: swab in cheek
56
PP of CF?
Abnormal CFTR = decreased Cl reabsorption
57
Common presentations of CF
Born with meconium ileus ``` Cough Chest infetions Prolonged diarrhoea (malabsorption due to panc) DM - panc endoc Irregular menstrual cycles ```
58
6 month old with diarrhoea and colic pains
Coeliac Usually presents at weaning (around 6 months)
59
Diagnosis of coeliac?
TTG IgA
60
Decreased bone age on exam suggests?
GH or TH decrease
61
Klinefelters
47XXY ``` Gynacomasteia Small genitals Wide hips Weaker muscles TALL ```
62
Homocystinuria
``` Tall Valgus Learning difficulties Seizures Eye problems ``` Need low protein diet
63
Marfans
Tall CT disorder - aorta / heart problems Autosomal dominent
64
What immunoglobulins are in colostrum?
IgA IgG IgM
65
Physiological weight loss?
10% by day 5 | Put back by day 10-14
66
How many wet nappies a day?
6-8 by day 4
67
PT & APTT?
Raised at birth by 2x for 48h Routine vit K at birth
68
Why physiological anaemia?
Placenta -> lung ox -> increased o2 sat -> massive decrease in EPO until Hb around 9 by 5-8w
69
Why physiological jaundice? Tx?
Short RBC lifespan High Hb load Immature liver enzymes 10% need phototherapy for unconj bilirubin or risk of kernicterus
70
Benign and transient rash in 50% of infants?
Erythema toxicum
71
Retain secretions in follics of nose?
Milia
72
Superficial capillary hemangioma from the neck up?
Stok marks

March (13 decks)

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