Paeds growth, puberty and endocrine (ILA2) Flashcards
(117 cards)
1
Q
What are the 4 phases of normal human growth?
A
- fetal
- infantile phase (infancy ->18 months)
- childhood phase
- pubertal growth spurt
2
Q
What are the determinants of the fetal growth phase?
A
dependent on the uterine environment so determined by…
- size of mother and father
- placental nutrition
3
Q
What are the determinants of the infantile growth phase?
A
- nutrition
- good health
- good function and happiness
- thyroid hormones
4
Q
What are the determinants of the childhood growth phase?
A
- genetics
- good health
- happiness
- good nutrition
- growth hormone
- thyroid hormones - cause cartilage cell division and bone formation
5
Q
What are the determinants of the pubertal growth phase?
A
- testosterone and oestrogen - fusion of epiphyseal growth plates, cessation of growth
- growth hormone
6
Q
How should measurements be recorded?
A
measurements should be plotted on a growth gentile chart
7
Q
Which measurements are recorded for growth?
A
- weight
electronic scales, naked - height
<2 y/o = lying down height - head circumference
occipitofrontal circumference - body mass index
8
Q
What are significant abnormalities of height?
A
measurements below 0.4th or above 99.7th gentile
markedly discrepant from weight
serial measurements which cross growth gentile lines after 1st year of life
9
Q
What is the first sign of puberty in females?
A
breast development
10
Q
What is the first sign of puberty in males?
A
testicular enlargement
11
Q
List the features of puberty in a female
A
breast development - 8.5-12.5 y/o
menarche- occurs 2.5 years after puberty, signals growth coming to end
pubic hair growth - after breast development
rapid height growth
acne
body odour
mood changes
12
Q
List the features of puberty in a male
A
testicular enlargement = >4ml volume using orchidometer
pubic hair growth - between 10-14 y/o
rapid height growth - later than females
acne
body odour
mood changes
13
Q
Define short stature
A
height below the 2nd centile
2 standard deviations below the mean
14
Q
If it is disproportionate short stature, what else should you measure?
A
sitting height
subischial leg length
limited radiographic skeletal surgery to identify skeletal abnormality
15
Q
List the possible causes for short stature
A
- familial
- constitutional delay in puberty and growth
- small for gestational age / preterm
- chromosomal disorders
- malnutrition/ chronic illness e.g. coeliac, crohns, CKD, CF, CHD
- psychological deprivation
- endocrine e.g. hypothyroidism, growth hormone deficiency, bushings
- idiopathic
16
Q
How is a child with short stature assessed?
A
Examination of the growth chart - height, weight, head circumference
determine the mid parental height
history - preterm, birth weight, feeding history, developmental milestones, chronic illness, medications (corticosteroids)
examination - dysmorphic features, chronic illness, evidence of endocrine illness, pubertal stage
17
Q
Which investigations can you do for short stature?
A
x-ray of hand/ wrist - can show bone age
FBC- anaemia
creatinine
calcium, phosphates, alkaline phosphatase
TSH
karyotype
growth hormone tests
18
Q
What are the possible causes for tall stature?
A
- familial
- obesity
- secondary - hyperthyroidism, excess sex steroids, congenital adrenal hyperplasia, true gigantism
- syndromes e.g. klinefelters, marfarn syndrome, sotos syndrome
- excessive growth at birth - maternal diabetes, primary hyperinsulinism,
19
Q
What is classed as delayed puberty?
A
absence of pubertal development by…
14 y/o in females
15 y/o in males
20
Q
List the possible causes of delayed puberty?
A
- constitutional delay
familial, most common - Low gonadotropin secretion
systemic disease e.g. CF, crohns, asthma, hypothyroidism
Hypothalamic pituitary disorders e.g. anorexia, starvation, growth hormone deficiency
Kallmann syndrome - High gonadotropin secretion
chromosomal abnormalities e.g. Klinefelters, Turners
steroid hormone enzyme deficiency
21
Q
How is delayed puberty managed?
A
- find the cause and treat
- if reassured puberty will occur, no treatment needed
oral oxandrolone in young males or oral testosterone in older males
22
Q
How is premature sexual development defined?
A
development of secondary sexual characteristics before 8 y/o in females or 9 y/o in males
23
Q
What are the 4 patterns of premature sexual development?
A
- precocious puberty
- premature breast development = thelarche
- premature pubic hair development
- isolate premature menarche
24
Q
how is precocious puberty classified?
A
categorised by levels of pituitary gonadotropics, FSH and LH…
- Gonadotropic dependent “true precocious puberty”
- gonadotropin independent “false precocious puberty”
25
Describe "true" precocious puberty (gonadotropin dependent)
when there is premature activation of the hypothalamic pituitary gonadal axis
the sequence of pubertal development is normal
common in females - ovaries are sensitive to gonadotropins but uncommon in males as testes insensitive to gonadotropins from pituitary
Cause: idiopathic, hypothyroid, infection
26
Describe "false" precocious puberty
when there is excess sex steroids outside the pituitary gland
sequence of pubertal development abnormal
27
In a male with precocious puberty, how would examining the testes help with excluding pathological causes?
BILATERAL ENLARGEMENT OF TESTES >4ml vol
gonadotropin dependent
causes: intracranial tumour, liver tumour
PREPUBERTAL ENLARGED TESTES
gonadotropin independent
cause: adrenal pathology
UNILATERAL ENLARGE TESTES
cause: gonadal tumour
28
List the causes of gonadotropin dependent precocious puberty
idiopathic
familial
CNS abnormalities e.g. infection, brain injury, neurofibromatosis, hydrocephalus
hypothyroidism
29
List the causes of gonadotropin independent precocious puberty
adrenal disorders e.g. tumours, congenital adrenal hyperplasia
ovarian tumour e.g. granulosa cell
testicular tumour e.g. leydig cell
exogenous sex steroids
30
How is undescended testes assessed?
diagnosis should be made at routine examination of the newborn
can be palpable - felt in groin but cannot be manipulated into the scrotum - or impalpable
if bilateral (25%) then need to karyotype
31
What are the possible complications of undescended testes?
infertility
torsion
psychological
testicular cancer
32
How common is congenital hypothyroidism?
1 in 4000 births
33
What are the causes of congenital hypothyroidism?
1. maldescent of the thyroid** - linguinal mass diagnosed on USS (most common in UK)
2. dyshormonogenesis
error of thyroid hormone synthesis, most common in consanguineous families
3. iodine deficiency **
most common cause in developing world
4. TSH deficiecny
associated with pituitary dysfunction
34
How is congenital hypothyroidism detected?
detected in neonatal screening by the Heel Prick test (Guthrie test) which shows raised TSH
35
What is the importance of detecting congenital hypothyroidism?
needs to be detected within the first 4 weeks as can cause irreversible cognitive impairment
it is a preventable cause of severe learning difficulties
36
How might a baby present if they are born with congenital hypothyroidism?
```
prolonged jaundice !
faltering growth
macroglossia, puffy face
hypotonia
feeding problems
constipated
pale, mottled, dry skin
```
37
How is congenital hypothyroidism treated?
life long thyroxine treatment
| 15mcg / Kg/ day
38
What is the most common cause of hypothyroidism in children?
autoimmune thyroiditis
39
How is your risk of autoimmune thyroiditis increased?
if have other autoimmune disease/ family history e.g. SLE, vitiligo, rheumatoid arthritis, type 1 diabetes, addissons
Downs syndrome
40
List the features of hypothyroidism
```
lethargy, tiredness
constipation
brittle hair
dry skin
cold intolerance / cold peripheries
short stature / delayed puberty
pale, puffy eyes
obesity
slipped upper femoral epiphysis
bradycardia
```
41
How is hypothyroidism managed?
thyroxine
42
How does hyperthyroidism present?
```
anxiety
sweating
weight loss
diarrhoea
rapid growth in height
increased appetite
tremor
tachycardia
goitre
eye signs
```
43
Which eye signs are seen with hyperthyroidism?
exophthalmos
ophthalmoplegia
lid retraction
lid lag
44
Which tests are performed in hyperthyroidism and what would expect to find?
THYROID FUNCTION TESTS
```
low TSH
high T4 (thyroxine)
high T3 (triiodothyronine)
```
45
How is hyperthyroidism treated?
carbimazole or propylthiouracil
SE= neutropenia
beta blockers
symptomatic relief
46
Are strawberry marks self limiting?
yes, appear in first month of life
increase in size until 3-15 months old
self limiting and shrink as get older
47
What can be used to shrink larger strawberry marks?
propanolol
48
How does a port wine stain manifest?
vascular malformation of capillaries in the dermis
49
Which conditions are associated with a port wine stain?
sturge weber syndrome
| Klippel Trenaunay syndrome
50
Describe the appearance of a mongolian blue spot?
blue purple birthmark on lower back/ limbs/ buttocks
51
Who are mongolian blue spots more common in?
also called congenital dermal melanocytosis
non caucasian ancestry e.g. south indian
52
What would you suspect if a child had >5 cafe au lait patches (light brown oval shaped)?
neurofibromatosis type 1
53
List the infectious causes of nappy rashes
contact dermatitis
infantile seborrhoeic dermatitis
candida infection
atopic eczema
54
How are nappy rashes managed?
1. use disposable nappies
2. protective emollient used sparingly
3. hydrocortisone cream if severe
55
What are the possible complications of chicken pox?
1. secondary bacterial infection* - with staphylococcus or group A strep, can lead to toxic shock syndrome
2. encephalitis
3. purpura fulminans
56
Which virus is responsible for hands, foot and mouth disease?
coxsackie (enterovirus)
57
How does hand foot and mouth disease present?
painful vesicular lumps on hands, dorsum of feet and mouth (oral ulcers) and tongue
fever
58
Which organisms are responsible for impetigo?
staph. aureus
| group A strep.
59
Describe the appearance of an impetigo infection
lesions on face, neck and hands
erythematous macule that becomes vesicular/ pustular
rupture of vesicles with exudate of fluid
causes honey crusted lesions
60
How is impetigo infection treated?
topical antibiotic e.g. mupirocin
OR
systemic antibiotics if severe e.g. flucloxacillin
61
What is staphylococcal scalded skin syndrome?
exfoliative staphylococcal toxin causing separation of epidermal skin through granular cell layers
62
How does staphylococcal scalded skin syndrome present?
```
fever
malaise
purulent, crusting and localised infection around eyes, nose and mouth
widespread erythema
dry skin
```
63
How is staphylococcal toxin syndrome treated?
IV flucoloxacillin and analgesia
64
Which immunisations are given when you are a newborn
BCG - if high risk
| Hep B - if positive mother
65
What is the "5 in 1" vaccine and when is this given?
give at 2, 3 and 4 months of age
1. diphtheria
2. tetanus
3. pertussis
4. H. influenzae type B
5. polio
66
When is the meningococcal B vaccine given?
2, 4 and 12 months
67
When is the pneumococcal conjugate vaccine given?
2, 4 and 12 months
68
When is the oral rotavirus vaccine given?
2 and 3 months
69
When is the MMR vaccine given?
at 12-13 months and then 3 years 4 months
70
When is the booster of h. influenzae type b given?
12-13 months
71
When is meningococcal C vaccine given?
12-13 months
72
At what age is the HPV vaccine given to girls?
12-13 years old
73
Which vaccine is given to new students at university or at 14 years old?
meningococcal ACWY conjugate vaccine
74
What is the difference between primary and secondary immunodeficiency disorders?
primary = genetically determined deficit in immunse system e.g. X linked, autosomal recessive
secondary = caused by another disease/ treatment e.g. malignancy, HIV, splenectomy
75
How does someone with an immunodeficiency disorder present?
```
children with infections that are...
S- severe e.g. meningitis, pneumonia
P- prolonged
U- unusual - present atypical, unusual pathogen
R- recurrent
```
76
How are children with immunodeficiency disorders managed?
anti- microbial prophylaxis e.g. azithromycin prophylax and cotrimoxazole to prevent PCP
screening for end organ damage
immunoglobulin replacement therapy
bone marrow transplant
77
Define hypersensitivity
objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose that is usually tolerated by most people
78
Define allergy
a hypersensitivity reaction initiated by specific immunological mechanisms - IgE mediated or non IgE mediated
79
Define anaphylaxis
a serious allergic reaction with bronchial, laryngeal or cardiovascular involvement that is rapid in onset and may cause death
80
What is the hygiene hypothesis?
that increased prevalence of allergies is due to altered microbial exposure associated with modern living conditions
81
Name some common stimuli causing allergic disease
INHALANT ALLERGENS
e.g. house dust mite, plant pollens, pet dander, mould
INGESTANT ALLERGENS
e.g. cows milk, nuts, soya
INSECT BITES/ STINGS
e.g. drugs, natural rubber latex
82
Describe the clinical course of IgE mediated reactions
1. EARLY PHASE (within minutes of exposure to allergen)
caused by release of histamine and mast cells
sneezing, vomiting, angiooedema, bronchospasm , CV shock
2. LATE PHASE (4-6 hours after)
nasal congestion in upper airways, cough, bronchospasm
83
What measures can be taken to prevent allergic disease?
avoid using formula milk from cows milk
use probiotics during late pregnancy (prevent eczema)
early introduction of peanut and egg to infants diet
nutritional supplements e.g. omega 3 fatty acids, vitamin D, antioxidants
84
What is the difference between a primary and secondary reaction for a food allergy?
primary reaction = childs first exposure of the food and react e.g. peanut, egg, milk
secondary reaction= due to cross reactivity between portions in fresh fruit/veg/nuts and those present in pollen
85
Describe the symptoms of an IgE mediated food allergy?
```
10-15 minutes after ingestion of food
urticaria
facila swelling
anaphylaxis
wheeze, stridor
shock, collapse
```
86
describe the symptoms of a non IgE mediated food allergy
```
diarrhoea
vomiting
abdominal pain
faltering growth
colic
```
87
What is the gold standard investigation to diagnose a food allergy?
1. exclusion of relevant food under dieticians supervision followed by a double blinded placebo controlled food challenge
88
How is an food allergy attack managed?
adrenaline IM by EpiPen
89
Describe the symptoms of allergic rhinitis (hay fever)
coryza
conjunctivitis
cough
associated with eczema, sinusitis, adenoidal hypertrophy, asthma
90
How does atopic eczema present?
rashes - itchy, scratching, erythematous and weeping
dry skin
flare ups
91
List some of the causes that exacerbate eczema
```
bacterial infection
viral infection
ingestion of allergen e.g. egg
contact with irritant
environment e.g. heat, humidity
psychological stress
```
92
How is atopic eczema managed?
1. AVOID IRRITANTS - avoid soap and biological detergent, wear pure cotton clothing
2. EMOLLIENTS - applied liberally 2/3 time a day an after bath
3. TOPICAL CORTICOSTEROIDS - e.g. 1% hydrocortisone effective for flare ups
93
What are the increased risk factors for type 1 diabetes?
genetic
associated with other autoimmune disorders e.g. hypothyroidism, SLE, vitiligo, addissons, coeliac, rheumatoid arthritis
94
What is the pathology behind type 1 diabetes?
destruction of the pancreatic beta cells by an autoimmune process causing insulin deficiency
95
Describe the cells of the pancreas and what they each produce
alpha cells - produce glucagon - increase blood sugar by breakdown of glycogen
beta cells - produce insulin - decrease blood sugar
delta cells - produce somatostatin - inhibit alpha and beta cells
96
Outline the classic triad of symptoms of type 1 diabetes
1. polyuria
2. polydipsia
3. weight loss
97
How is diagnosis of type 1 diabetes confirmed?
1. raised random blood glucose >11.1 mmol/L
2. glycosuria
3. ketosis
98
What is the normal range for a fasting plasma glucose and then after eating?
fasting = 3.4 - 5.6 mmol/L
after eating= <7.8 mmol/L
99
How are type 1 diabetics managed?
1. intensive educational programme - blood glucose finger prick monitoring (aim 4-7), exercise, recognition of DKA/ hypoglycaemia
2. Insulin
3. diet - high complex carbohydrates, modest fat content, high fibre, carb counting
100
What are the types of insulin available?
1. rapid acting insulin analogues
faster onset and shorter duration
2. short acting soluble human regular insulin
onset in 30-60 min, peak 2-4 hours
3. intermediate acting insulin
101
Which factors cause poor diabetes control?
eating too many sugary foods
infrequency of blood glucose testing
illness
exercise
eating disorders
inadequate family support and motivation
102
what are the microvascular and macrovascular long term complications of type 1 diabetes?
Microvascular - retinopathy, nephropathy, neuropathy
Macrovascular- hypertension, coronary artery disease, cerebrovascular disease
103
What causes diabetic ketoacidosis?
lack of insulin has 2 effects..
1. causes increase in glucagon production which leads to increased secretion of glucose
2. causes fat to breakdown into fatty acids -> ketones -> ketones are acidic and cause necrosis of cells
104
What are the symptoms of diabetic ketoacidosis?
```
smell of acetone on breath
vomiting
dehydration
abdominal pain
kussmall breathing
drowsiness
```
105
How is diabetic ketoacidosis diagnosed?
1. blood glucose >11.1 mmol/l
2. blood ketones >3.0 mmol/L
3. blood gas- metabolic acidosis
106
How is diabetic ketoacidosis managed?
1. FLUIDS - initial resuscitation with 0.9% saline then add 5% glucose when blood glucose <14 mmol/L
2. IV insulin
monitor blood glucose hourly
3. potassium
need cardiac monitoring and 2-4 hourly potassium measurements
4. reestablish diet
107
What is Kussmal breathing?
increased respiratory take if acidotic
108
What is congenital adrenal hyperplasia?
group of autosomal recessive disorders of adrenal steroid biosynthesis
109
describe how congenital adrenal hyperplasia causes its symptoms
1. deficiency of 21 hydroxylase enzyme
2. results in low cortisol levels
3. causes increased production of ACTH from anterior pituitary gland
4. stimulates production of adrenal androgens and testosterone
ALSO unable to produce aldosterone causing salt loss
110
how might a female or male present with 21 hydroxylase deficiency in congenital adrenal hyperplasia?
FEMALES
virtilisation of female genitalia e.g. clitoral hypertrophy, fusion of the labia
MALES
precocious puberty
tall stature
salt losing crisis
111
Describe the symptoms of salt losing crisis in congenital adrenal hyperplasia and why does this occur?
presents at 1-3 weeks of age in boys
vomiting, weight loss, floppy, circulatory collapse
occurs because of a lack of aldosterone production causing salt loss (low sodium)
112
What are the 3 causes of congenital adrenal hyperplasia?
1. 21 hydroxylase deficiency ** (90%)
2. 11 beta hydroxylase deficiency (5%)
3. 17- hydroxylase deficiency (rare)
113
How is congenital adrenal hyperplasia diagnosed?
markedly raised levels of metabolic 17-hydroxyprogesterone in blood
114
Outline the biochemical abnormalities in salt loss in congenital adrenal hyperplasia
low plasma sodium
high plasma potassium
metabolic acidosis
hypoglycaemia
115
Describe the lifelong management of patients with congenital adrenal hyperplasia
1. glucocorticoids - hydrocortisone
2. mineralocorticoids for salt loss - fludrocortisone
3. monitoring growth, skeletal maturity, plasma androgens, 17-hydroxyprogesterone
4. additional hormone replacement during illness/ surgery
116
How are males in salt crisis managed?
1. saline
2. dextrose
3. hydrocortisone IV
117
What is given to mothers who have already had a previous baby with CAH when they have another baby?
dexamethasone at conception
