Paeds growth, puberty and endocrine (ILA2) Flashcards
What are the 4 phases of normal human growth?
- fetal
- infantile phase (infancy ->18 months)
- childhood phase
- pubertal growth spurt
What are the determinants of the fetal growth phase?
dependent on the uterine environment so determined by…
- size of mother and father
- placental nutrition
What are the determinants of the infantile growth phase?
- nutrition
- good health
- good function and happiness
- thyroid hormones
What are the determinants of the childhood growth phase?
- genetics
- good health
- happiness
- good nutrition
- growth hormone
- thyroid hormones - cause cartilage cell division and bone formation
What are the determinants of the pubertal growth phase?
- testosterone and oestrogen - fusion of epiphyseal growth plates, cessation of growth
- growth hormone
How should measurements be recorded?
measurements should be plotted on a growth gentile chart
Which measurements are recorded for growth?
- weight
electronic scales, naked - height
<2 y/o = lying down height - head circumference
occipitofrontal circumference - body mass index
What are significant abnormalities of height?
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
What is the first sign of puberty in females?
breast development
What is the first sign of puberty in males?
testicular enlargement
List the features of puberty in a female
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
List the features of puberty in a male
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
Define short stature
height below the 2nd centile
2 standard deviations below the mean
If it is disproportionate short stature, what else should you measure?
sitting height
subischial leg length
limited radiographic skeletal surgery to identify skeletal abnormality
List the possible causes for short stature
- 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
How is a child with short stature assessed?
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
Which investigations can you do for short stature?
x-ray of hand/ wrist - can show bone age
FBC- anaemia
creatinine
calcium, phosphates, alkaline phosphatase
TSH
karyotype
growth hormone tests
What are the possible causes for tall stature?
- 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,
What is classed as delayed puberty?
absence of pubertal development by…
14 y/o in females
15 y/o in males
List the possible causes of delayed puberty?
- 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
How is delayed puberty managed?
- find the cause and treat
- if reassured puberty will occur, no treatment needed
oral oxandrolone in young males or oral testosterone in older males
How is premature sexual development defined?
development of secondary sexual characteristics before 8 y/o in females or 9 y/o in males
What are the 4 patterns of premature sexual development?
- precocious puberty
- premature breast development = thelarche
- premature pubic hair development
- isolate premature menarche
how is precocious puberty classified?
categorised by levels of pituitary gonadotropics, FSH and LH…
- Gonadotropic dependent “true precocious puberty”
- gonadotropin independent “false precocious puberty”
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
Describe “false” precocious puberty
when there is excess sex steroids outside the pituitary gland
sequence of pubertal development abnormal
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
List the causes of gonadotropin dependent precocious puberty
idiopathic
familial
CNS abnormalities e.g. infection, brain injury, neurofibromatosis, hydrocephalus
hypothyroidism
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
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
What are the possible complications of undescended testes?
infertility
torsion
psychological
testicular cancer
How common is congenital hypothyroidism?
1 in 4000 births
What are the causes of congenital hypothyroidism?
- maldescent of the thyroid** - linguinal mass diagnosed on USS (most common in UK)
- dyshormonogenesis
error of thyroid hormone synthesis, most common in consanguineous families - iodine deficiency **
most common cause in developing world - TSH deficiecny
associated with pituitary dysfunction
How is congenital hypothyroidism detected?
detected in neonatal screening by the Heel Prick test (Guthrie test) which shows raised TSH
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
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
How is congenital hypothyroidism treated?
life long thyroxine treatment
15mcg / Kg/ day
What is the most common cause of hypothyroidism in children?
autoimmune thyroiditis
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
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
How is hypothyroidism managed?
thyroxine
How does hyperthyroidism present?
anxiety sweating weight loss diarrhoea rapid growth in height increased appetite tremor tachycardia goitre eye signs
Which eye signs are seen with hyperthyroidism?
exophthalmos
ophthalmoplegia
lid retraction
lid lag
Which tests are performed in hyperthyroidism and what would expect to find?
THYROID FUNCTION TESTS
low TSH high T4 (thyroxine) high T3 (triiodothyronine)
How is hyperthyroidism treated?
carbimazole or propylthiouracil
SE= neutropenia
beta blockers
symptomatic relief
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
What can be used to shrink larger strawberry marks?
propanolol
How does a port wine stain manifest?
vascular malformation of capillaries in the dermis
Which conditions are associated with a port wine stain?
sturge weber syndrome
Klippel Trenaunay syndrome
Describe the appearance of a mongolian blue spot?
blue purple birthmark on lower back/ limbs/ buttocks
Who are mongolian blue spots more common in?
also called congenital dermal melanocytosis
non caucasian ancestry e.g. south indian
What would you suspect if a child had >5 cafe au lait patches (light brown oval shaped)?
neurofibromatosis type 1
List the infectious causes of nappy rashes
contact dermatitis
infantile seborrhoeic dermatitis
candida infection
atopic eczema
How are nappy rashes managed?
- use disposable nappies
- protective emollient used sparingly
- hydrocortisone cream if severe
What are the possible complications of chicken pox?
- secondary bacterial infection* - with staphylococcus or group A strep, can lead to toxic shock syndrome
- encephalitis
- purpura fulminans
Which virus is responsible for hands, foot and mouth disease?
coxsackie (enterovirus)
How does hand foot and mouth disease present?
painful vesicular lumps on hands, dorsum of feet and mouth (oral ulcers) and tongue
fever
Which organisms are responsible for impetigo?
staph. aureus
group A strep.
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
How is impetigo infection treated?
topical antibiotic e.g. mupirocin
OR
systemic antibiotics if severe e.g. flucloxacillin
What is staphylococcal scalded skin syndrome?
exfoliative staphylococcal toxin causing separation of epidermal skin through granular cell layers
How does staphylococcal scalded skin syndrome present?
fever malaise purulent, crusting and localised infection around eyes, nose and mouth widespread erythema dry skin
How is staphylococcal toxin syndrome treated?
IV flucoloxacillin and analgesia
Which immunisations are given when you are a newborn
BCG - if high risk
Hep B - if positive mother
What is the “5 in 1” vaccine and when is this given?
give at 2, 3 and 4 months of age
- diphtheria
- tetanus
- pertussis
- H. influenzae type B
- polio
When is the meningococcal B vaccine given?
2, 4 and 12 months
When is the pneumococcal conjugate vaccine given?
2, 4 and 12 months
When is the oral rotavirus vaccine given?
2 and 3 months
When is the MMR vaccine given?
at 12-13 months and then 3 years 4 months
When is the booster of h. influenzae type b given?
12-13 months
When is meningococcal C vaccine given?
12-13 months
At what age is the HPV vaccine given to girls?
12-13 years old
Which vaccine is given to new students at university or at 14 years old?
meningococcal ACWY conjugate vaccine
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
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
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
Define hypersensitivity
objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose that is usually tolerated by most people
Define allergy
a hypersensitivity reaction initiated by specific immunological mechanisms - IgE mediated or non IgE mediated
Define anaphylaxis
a serious allergic reaction with bronchial, laryngeal or cardiovascular involvement that is rapid in onset and may cause death
What is the hygiene hypothesis?
that increased prevalence of allergies is due to altered microbial exposure associated with modern living conditions
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
Describe the clinical course of IgE mediated reactions
- EARLY PHASE (within minutes of exposure to allergen)
caused by release of histamine and mast cells
sneezing, vomiting, angiooedema, bronchospasm , CV shock - LATE PHASE (4-6 hours after)
nasal congestion in upper airways, cough, bronchospasm
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
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
Describe the symptoms of an IgE mediated food allergy?
10-15 minutes after ingestion of food urticaria facila swelling anaphylaxis wheeze, stridor shock, collapse
describe the symptoms of a non IgE mediated food allergy
diarrhoea vomiting abdominal pain faltering growth colic
What is the gold standard investigation to diagnose a food allergy?
- exclusion of relevant food under dieticians supervision followed by a double blinded placebo controlled food challenge
How is an food allergy attack managed?
adrenaline IM by EpiPen
Describe the symptoms of allergic rhinitis (hay fever)
coryza
conjunctivitis
cough
associated with eczema, sinusitis, adenoidal hypertrophy, asthma
How does atopic eczema present?
rashes - itchy, scratching, erythematous and weeping
dry skin
flare ups
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
How is atopic eczema managed?
- AVOID IRRITANTS - avoid soap and biological detergent, wear pure cotton clothing
- EMOLLIENTS - applied liberally 2/3 time a day an after bath
- TOPICAL CORTICOSTEROIDS - e.g. 1% hydrocortisone effective for flare ups
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
What is the pathology behind type 1 diabetes?
destruction of the pancreatic beta cells by an autoimmune process causing insulin deficiency
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
Outline the classic triad of symptoms of type 1 diabetes
- polyuria
- polydipsia
- weight loss
How is diagnosis of type 1 diabetes confirmed?
- raised random blood glucose >11.1 mmol/L
- glycosuria
- ketosis
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
How are type 1 diabetics managed?
- intensive educational programme - blood glucose finger prick monitoring (aim 4-7), exercise, recognition of DKA/ hypoglycaemia
- Insulin
- diet - high complex carbohydrates, modest fat content, high fibre, carb counting
What are the types of insulin available?
- rapid acting insulin analogues
faster onset and shorter duration - short acting soluble human regular insulin
onset in 30-60 min, peak 2-4 hours - intermediate acting insulin
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
what are the microvascular and macrovascular long term complications of type 1 diabetes?
Microvascular - retinopathy, nephropathy, neuropathy
Macrovascular- hypertension, coronary artery disease, cerebrovascular disease
What causes diabetic ketoacidosis?
lack of insulin has 2 effects..
- causes increase in glucagon production which leads to increased secretion of glucose
- causes fat to breakdown into fatty acids -> ketones -> ketones are acidic and cause necrosis of cells
What are the symptoms of diabetic ketoacidosis?
smell of acetone on breath vomiting dehydration abdominal pain kussmall breathing drowsiness
How is diabetic ketoacidosis diagnosed?
- blood glucose >11.1 mmol/l
- blood ketones >3.0 mmol/L
- blood gas- metabolic acidosis
How is diabetic ketoacidosis managed?
- FLUIDS - initial resuscitation with 0.9% saline then add 5% glucose when blood glucose <14 mmol/L
- IV insulin
monitor blood glucose hourly - potassium
need cardiac monitoring and 2-4 hourly potassium measurements - reestablish diet
What is Kussmal breathing?
increased respiratory take if acidotic
What is congenital adrenal hyperplasia?
group of autosomal recessive disorders of adrenal steroid biosynthesis
describe how congenital adrenal hyperplasia causes its symptoms
- deficiency of 21 hydroxylase enzyme
- results in low cortisol levels
- causes increased production of ACTH from anterior pituitary gland
- stimulates production of adrenal androgens and testosterone
ALSO unable to produce aldosterone causing salt loss
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
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)
What are the 3 causes of congenital adrenal hyperplasia?
- 21 hydroxylase deficiency ** (90%)
- 11 beta hydroxylase deficiency (5%)
- 17- hydroxylase deficiency (rare)
How is congenital adrenal hyperplasia diagnosed?
markedly raised levels of metabolic 17-hydroxyprogesterone in blood
Outline the biochemical abnormalities in salt loss in congenital adrenal hyperplasia
low plasma sodium
high plasma potassium
metabolic acidosis
hypoglycaemia
Describe the lifelong management of patients with congenital adrenal hyperplasia
- glucocorticoids - hydrocortisone
- mineralocorticoids for salt loss - fludrocortisone
- monitoring growth, skeletal maturity, plasma androgens, 17-hydroxyprogesterone
- additional hormone replacement during illness/ surgery
How are males in salt crisis managed?
- saline
- dextrose
- hydrocortisone IV
What is given to mothers who have already had a previous baby with CAH when they have another baby?
dexamethasone at conception
