Endocrinology Flashcards
What are the RFs for neonatal hypoglycaemia in the first 24hrs? (7)
IUGR (poor glycogen stores)
Preterm (poor glycogen stores)
Maternal DM (sufficient glycogen but islet hyperplasia/ hyperinsulinaemia) LGA
Hypothermic
Polycythaemic
Ill any reason
What are some features of neonatal hypoglycaemia? (5)
Apnoea/tachypnoea
Tachycardia
Sweating
CNS signs:
Lethargy/drowsy/coma
Jittery/ Irritable/ Seizures
Why can many newborns tolerate low blood glucose levels?
What level is optimum for neurodevelopment?
Can use lactate + ketones as energy stores
Glucose >2.6 for neurodevel (long-term → permanent neuro-disability)
What are some clinical features of hypoglycaemia in children (not neonates) (3)
Sweating
Pallor
CNS signs (irritability, headache, seizures, coma)
What are some causes of hypoglycaemia in children (8)
Fasting
XS insulin: DM, B-cell tumours, drugs (sulphonylureas), autoimm (insulin-R Abs), Beckwith syndrome
W/o hyperinsulinaemia: liver disease, ketotic hypogly, congen metabolism error
Galactosaemia Fructose intolerance Maternal DM Hormonal defc Aspirin/alc poisoning
What is the incidence of T1DM in U16s
What countries commoner from?
RFs (2)
2 in 1000 by 16y/o
Commoner in northern countries
RFs: identical twin or mat/paternal affected (pat>mat)
What is the typical presentation of T1DM before DKA? (4)
What are some less common symptoms? (3)
Polyuria
Polydipsia
Wt loss
Nocturnal enuresis in young children
Enuresis
Skin sepsis
Thrush
How is an official Dx of T1DM made?
Glucose > 11.1, Glycosuria + Ketonuria
if doubt then fasting glucose > 7 or raised HbA1c
What circumstances would you suspect T2DM in a child? (3)
Indian
FH
Severely obese
+ signs of insulin resistance
What information is given in the intensive educational programme after a Dx of T1DM? (7)
Basic understanding Injection techniques Diet Adjustments for sickness/exercise Blood glucose checks Recongition of hypo Support groups / psych support
What advice can be given about injection technique in T1DM? What sites?
Antero-lateral thigh, buttocks + abdo
To avoid lipohypertrophy: rotate sites + pinch/45degree angle
What sort of diet is recommended for T1DM
High complex carbs
Low fat content
High fibre
Avoid high sugar content foods
What blood glucose should be aimed for in children with T1DM?
What HbA1c should be aimed for?
BM 4-6 (in reality 4-10 to avoid hypo)
HbA1c <7.5% or <58mmol/mol
At what glucose levels will well-defined hypoglycaemic symptoms develop in children?
What is the initial management?
Glucose < 4
Initially sugary drink then → IM glucagon
What problems with T1DM are faced in adolescence / puberty? (2)
How can these be dealt with?
Adherence (smoking, alcohol, drugs, body image)
Increased insulin need due to antagonistic GH / oestrogen / testosterone
Establish short-term goals (avoid hypos, normal home/school life)
United team approach
+ve peer pressure from activities
What are the problems faced in T1DM (children all ages)? (7)
Sweets Exercise Eating disorders Family disturbance e.g. divorce Lack of motivation / support Unreliable glucose monitoring Illness (common in young) affects appetite + increases insulin requirement
What are the long term complications of T1DM? (7) + how are these monitoring
Growth/pubertal development (poss some delay + obesity common in esp girls)
Retinopathy - check 5yrly
Feet - encourage good care
BP - check yrly
Renal - screen for microalbuminuria
Coeliac - low threshold for autoimmune Ix
Thyroid - low threshold for autoimmune Ix
List some presentation features of a DKA? (8)
Acetone breath (pear drops) Vomiting Dehydration Abdo pain Hyperventilation (acidosis) Hypovolaemic shock Drowsiness Coma/death
What essential/early Ix are done in DKA? (7)
Blood glucose (bedside + lab) Urinary glucose/ketones Blood gas (acidosis) U&Es (dehydration) ECG (t-wave changes with hypokalaemia) Weight Any precipitating cause e.g. infection (blood/urine cultures)
Describe the stepwise approach management of a DKA? (in order or priority) (6) (FIPARI)
Fluids - if in shock resuscitate w. normal saline (+ monitor fluid balance /U&Es)
Insulin infusion - 0.05-0.1U/kg/hr, titrated to blood glucose, not as bolus, change fluid to dextrose when <14
Potassium (initial rise then fall) - replace once urine passed, continuous cardiac monitoring
Acidosis - correct with fluids/insulin (monitor capillary ketones), avoid HCO3- unless shocked/unresponsive to Tx
Re-establish oral fluids, diet + subcut insulin
ID/Treat underlying cause
What are the RFs/associations with constitutional delay in growth? (3)
What physical features seen? (4)
FH (occurred in parent of same sex)
XS exercise / diet
Males commoner
Delayed sexual changes for age
Bone age delay
Long legs/back
Eventually should reach target height
What are some causes of short stature? (1+10)
Non-pathological: constitutional delay in growth Pathological: Familial IUGR / extreme prematurity Chromsomal disorder / syndromes Disproportionate short stature
Hypothyroidism
GH defc
XS corticosteroids / Cushings syndrome
Nutrition
Chronic illness
Psychosocial deprivation
What measurement is the best indicator of growth failure?
What value is classed as abnorm
Height velocity (sensitive indicator) Persistently <25th centile is abnormal
How is the genetic target height estimated? (boys/girls)
Mid-parental height =
Mean of mums/dads
+7cm (boys)
-7cm (girls)
What are some causes of GH defc? (5)
Isolated defect: Laron syndrome - GH receptor defect / insensitivity Secondary to Panhypopituitarism: Congenital mid-facial defects Craniopharyngioma Hypothalamic tumour Trauma (head injury, meningitis)
How does the recognition of hypothyroidism Dx/treatment at different times affect final height?
Congenital hypothyroidism Dx - no long-term effects on stature
Not Dx for yrs → short stature
Once treated → rapid catch up growth/entry in puberty → limits final height
What chronic illnesses in children may present with short stature? (3)
Crohn’s
Coeliac
Chronic renal failure
What chromosomal disorders / syndromes are associated with short stature? (3)
Down’s
Turner’s
Russel-Silver
How is disproportionate short stature Dx? (3)
What are some (rare) causes? (2)
Sitting ht
Subischial length (sitting/standing ht)
Radiographic bone survey
Skeletic dysplasia
Achondroplasia
What information must be gathered from the Hx for a child presenting with short stature?
Birth: length/wt /head circ / gestational age
Pregnancy: IUGR, infection, alc/smok/drug use
Feeding Hx
Developmental milestones
Features of chronic illness / endocrine causes
Medications e.g. corticosteroids
FH - constitutional delay (parental development ages), consanguinity
What must be looked for O/E in a child presenting with short stature
Dysmorphic features
Signs chronic illness (e.g. Crohns, CF, Coeliac)
Evidence of endocrine causes (e.g. cushings)
Disproportionate?
Pubertal stage?
What is the natural Hx / age range for the pubertal changes in girls?
+ in boys
Breast development 8-13y/o
→ Pubic hair growth → Rapid height spurt (shortly after)
→ 2.5yrs later menarche
Testicular enlargement (>4ml) 10-14y/o
→ Pubic hair growth
→ Height spurt 18m later (later+greater than females)
What is delayed puberty defined as in males/females?
Absent pubertal development by 14yrs (females) or 15yrs (males)
What are some causes of delayed puberty? (7)
Constitutional delay of growth+puberty (commonest cause)
Low gonadotrophin secretion: Acquired hypothyroidism Hypothalamo-pituitary disorders (intracranial tumour + GH defc) Systemic diseases (CF, Asthma, Crohn's, anorexia)
High gonadotrophin secretion:
Csomal abns
Steroid hormone enzyme defc
Acquired gonadal damage
What Ix can be done in boys (2) + girls (3) presenting with delayed puberty?
Boys: assess pubertal stage, ID any chronic systemic disorders
Girls: karyotype (Turner’s), thyroid, sex hormones
If puberty is decided to be abnormally late/early, what Ix can be done?
Hand/wrist X-Ray → bone age measurements Pelvic USS (girls) → assess uterine size/cystic ovaries
What is premature/precocious puberty defined as in boys/girls?
Premature secondary sexual characteristics < 9yrs (boy) + < 8yrs (girl)
What are the categories/causes of precocious puberty? (2:5+4)
Gonadotrophin dependant (raised LH > raised FSH) = premature activation of H-P axis
→ Idiopathic/familial
→ Hypothyroidism
CNS abns:
→ congenital (hydrocephalus)
→ acquired (post-irradiation, infection, surg)
→ Tumour
Gonadotrophin independant (low LH + low FSH) (rare) → Adrenal disorders (tumour, CAH) → Exogenous sex steroids → Ovarian tumour (granulosa cell) → Testicular tumour (Leydig)
What will findings from testicular examination tell you about the cause of precocious puberty in a boy?
Bilateral enlargement = gonadotrophin release (intracranial lesion → MRI)
Small testes = adrenal cause (tumour/CAH)
Unilateral enlargement (gonadal tumour)
What are the aims of management of precocious puberty? (3)
Detect/treat any underlying pathology
Reduce rate of skeletal maturation
Address psychological/behavioural difficulties
How is precocious puberty managed in gonadotrophin-dependant causes?
+ in gonadotrophin-independant causes?
Gonado-dep → GnRH analogues
Gonado-indep → identify source of XS sex steroids + androgen/oestrogen production/action inhibitors
What age does premature thelarche occur?
How may it present/progress?
How is it differentiated from precocious puberty?
Occurs 6m-2yrs
Asymmetrical, non-progressive/self-limiting (to stage 3)
Differentiated by absence of axillary/pubic hair + growth spurt
What is premature pubarche defined as + due to?
What ethnicities common on
What is there an increased risk of in the future?
= pubic hair <8yrs (girls) <9yrs (boys)
Due to accentuation of normal adrenal androgen maturation (adrenarche)
Commoner in Afro-Caribbean + Asian
Increased risk developing PCOS later
What BMI centile is classed as overweight/obese in children <12yrs?
Overweight = >91st Obese = >98th
> 12yrs - normal adult BMI categories
List some syndromes associated with obesity (6)
Down’s
Turner’s
Prader-Willi
Pseudohypoparathyroidism
Laurence-Moon-Biedl
Cohen
What are some immediate complications of obesity in children? (3)
Orthopaedic - e.g. SUFE, abnorm foot structure Idiopathic intracranial hypertension (papilloedema) Hypoventilation syndrome (daytime drowsy, sleep apnoea, hypercapnia, heart failure)
What are some long-term complications of obesity in children? (8)
Hypertension Abnorm blood lipids Asthma Gall bladder disease T2DM PCOS Cancers Psychological
What are the indications for pharmacological treatment for childhood obesity? (3)
+ indications for Bariatric surgery? (3)
Dietary/exercise/behavioural approaches tried
>12yrs + BMI > 40
or BMI >35 + complications (HT/T2DM)
Almost achieved maturity
All other interventions failed
Severe/extreme obesity + complications
What pharmacological treatments are used for obesity + how do they work?
Orlistat: lipase inhibitor (reduces fat absorption)
Metformin: insulin sensitiser / reduces gluconeo / reduces GI glucose absorption
What thyroid changes occur after birth in normal baby vs preterm?
Fetus - mainly produces inactive reverse T3
After birth - TSH → increased T3/T4 → lower TSH (norm adult range within 1wk)
Preterm - v low T4 levels in 1st few weeks (req thyroxine until TSH in normal range)
What is the incidence of congenital hypothyroidism?
List the causes (4)
1 in 4000 (relatively common)
Maldescent of thyroid / athyrosis
Dyshormogenesis (inborn error thyroid horn synth)
Iodine defc (worldwide commonest)
TSH defc (panhypopituitarism)
List some clinical features of congenital hypothyroidism (12)
Asymp (usually)
Cold, mottled skin Hypotonia Macroglossia Myxoedematous facies Goitre Umbilical hernia
Prolonged jaundice Constipation Feeding difficulties Failure to thrive Delayed development
List some clinical features of acquired hypothyroidism (12)
Female > Males Short stature/growth failure Bradycardia Dry, thin hair Dry skin Pale puffy eyes (+loss of eyebrows) Delayed puberty Cold peripheries/intolerance Obesity Goitre Learning difficulties Constipation
How is congenital hypothyroidism usually picked up?
On guthrie test (raised TSH) (unless secondary to pituitary abns which will have low TSH)
How is congenital hypothyroidism managed?
Start thyroxine at 2-3wks old (+ titrate dose to maintain normal dose)
What is the main cause of hyperthyroidism in children?
Who usually seen in?
What will thyroid hormone levels show?
Usually due to Graves (thyroid stimulating Igs)
Teenage girls
TSH low + T3/T4 high
What are the clinical features of hyperthyroidism? (sim to adults) (13)
Sweating
Heat intolerance
Anxiety/tremor
Psychosis
Wt loss
Increased appetite
Diarrhoea
Rapid ht growth
Tachycardia
Warm vasodilator periphs
Goitre
Learning difficulties
Eye signs (less common < adults)
What are some of the management options for hyperthyroidism? (3)
B-blockers for symptomatic relief (anxiety/tachy/tremor)
Anti-thyroids e.g. carbimazole / propylthiouracil (caution: risk neutropenia)
Radioiodine destruction (+lifelong replacement thyroxine)
How may T2DM present in children? 4 epidemiological features + 4 clinical features
Minority communities
Strong FH
Girls
Onset 12-16yrs
Obesity
Hypertension
No polydipsia/uria
Acanthosis nigricans
What are the causes of Cushings in children? (1 common + 2 rare)
SE of long-term glucocorticoid therapy (e.g. asthma, nephrotic syndrome, bronchopulm dysplasia)
ACTH-driven (pituitary adenoma - olders) Adrenocortical tumours (would also see virilisation)
How can Cushings + obesity be distinguished?
Cushings: short + growth failure
Obese: usually over average height
How can iatrogenic Cushings disease be managed?
The unwanted SE is markedly reduced by taking the corticosteroid medication in morning on alternate days
What are some clinical features of Cushings? (10)
Growth failure/short stature
Face+trunk obesity Red cheeks Hirsutism Striae Bruishing Psych probs
Hypertension
Osteopenia
Muscle wasting/weakness
What is diabetes insipidus?
What is it caused by?
How is it treated?
Failure to produce ADH → urine cannot be concentrated
Genetic cause
Lifelong ADH analogue - desmopressin
How does diabetes insipidus present in an infant/young child? (7)
+ in older children? (3)
Earliest signs: Vigorous suck with vomiting Fever w/o apparent cause Constipation Excessively wet nappies
Failure to thrive
Poor feeding
Irritability
Later signs:
H/o polyuria + polydipsia
Extreme dehydration
Nocturnal enuresis
What Ix is done if suspect GH defc?
How is GH defc treated?
GH provocation test - using insulin/glucagon/clonidine/arginine
Daily biosynthetic GH (sub cut) (expensive)
OR in Laron syndrome (GH resistance) → recombinant IGF-1
What is the incidence of gynaecomastia in boys?
What are some rare causes?
What investigations may be done?
50% 12-16y/o → Goes away w/o Tx
OTC/illegal/drugs
Tumours
Review meds + LFTs/estradiol/LH/testosterone
What is Prader-Willi syndrome?
What is the incidence
What are some of the features (8) think fat shitty kid
= 2copies of come 15q11-13 from maternal side
1 in 15-30,000 (sporadic > familial)
Dysmorphic facial features (round face, smooth philtrum) Hypotonia Obesity/XS appetite Undescended testes Small stature Devel delay LDs Behav probs
