Endocrinology Flashcards
Define Puberty
Well defined sequence of physical and physiological changes during adolescent years that results in attainment of full physical and sexual maturity
Initiated by nocturnal pulsatile release of GnRH
Describe the order of events of Puberty in boys
Testicular Growth
Pubic Hair
Growth Spurt
Penis Growth
Deepening of Voice
Increased Sweat
Facial Hair
Describe the order of events of Puberty in girls
Breast Buds
Pubic Hair
Growth Spurt
Period
Mature Pubic Hair
Mature Breasts
Describe the Male Tanner Scale for genitalia
I - Prepubertal
II - Enlarged testes and scrotum
III - Lengthening of Penis
IV - Increase in length and breadth
V - Adult Size
Describe the Male Tanner scale for Pubic Hair
I - Vellus
II - Sparse and long at base of penis
III - Darker and Curlier
IV - Adult hair over smaller area
V - Spread to medial thighs
Describe the Female Tanner scale for Breast Development
I - Elevation of papilla only
II - Breast bud stage (elevation of breast and papillae)
III -Further elevation
IV - Areola form second mound
V - Areola recedes and papilla projects
At what Tanner Stage does Menarche start in girls?
IV
How do you assess height in Under 2s?
Lying horizontally on measuring board
How do you assess height in over 2s?
Free standing with moderate upward neck traction
Sitting height vs leg length allows estimate of upper and lower portions
Other than measuring height, how else can height be assessed?
Target height range via parents
Bone Age (XRay left wrist)
How do you calculate target height range in children?
(Mums Height + Dads Height)/2
+ 6.5 if boy
-6.5 if girl
Define short stature in children
Height below and including second centile
Define tall stature in children
Height above and including 98th centile
Define Delayed Puberty
When puberty hasn’t started at 16y in boys and 14y in girls
Can be normal, and likely a positive family history
Can give sex steroids for 6-8 months to induce changes
Delayed Puberty can be Hypogonadotrophic or Hypergonadotrophic. Give three causes of Hypogonadotrophic
Hypopituitarism
CAH
Intracranial Tumours
Delayed Puberty can be Hypogonadotrophic or Hypergonadotrophic. Give three causes of Hypergonadotrophic
Turners
Klinefelters
Chemotherapy
Precocious Puberty is onset of puberty before the age of 8 in Girls and 9 in Boys. Give two central and two peripheral causes
Central - Intracranial Tumours, Hydrocephalus
Peripheral - Tumours, Exogenous Sex Steroids
Give four investigations for Precocious Puberty
Tanner Stage
Neuro Exam
Bone Age
Pelvic and Abdo USS
How is Precocious Puberty managed?
GnRH analogues (monthly IV or IM)
Only for central
Describe the clinical features of T1DM
25-50% present in DKA
Classic Triad - Polynesia, Polydipsia, Weight Loss
Atypical - Secondary Enuresis, Recurrent Infections
At diagnosis baseline bloods are required to rule out other causes of T1DM. What other diseases should be screened for?
Thyroid Disease (TFTs, TPO antibodies)
Coeliac (Anti TTG)
A diagnosis of T1DM requires patient and family education. What should they be told about glucose monitoring?
At waking
At each meal
Before bed
Via CBG
Ideally 2h after each meal as well
Describe the typical Insulin management in T1DM
Normally initiated on basal bolus (long acting in evening-Lantus, and short acting - Actrapid 30 mins before each meal)
Why should patients vary injection site in T1DM?
To prevent lipodystrophy
Subcutaneous fat hardens preventing further insulin absorption in that area
Who qualifies for an Insulin Pump and how does it work?
If over 12 and difficulty controlling HbA1c
Continuous infusion of insulin at different levels through cannula tunnelled under skin. Cannula replaced everything 2-3 days and injection site varied.
State the two types of Insulin Pump
Tethered - Attached to patients belt, control on pump
Patch - sits directly on skin without visible tubes, have to replace whole patch, controlled remotely
Give two advantages and two disadvantages of Insulin pumps
Better Control, More Flexibiity
Blockages, infection risk
Hypoglycaemia is a short term complication of T1DM. How would it present?
Hunger
Tremor
Sweating
Dizziness
Pallor
Commonly Nocturnal
How is Hypoglycaemia managed?
Rapid acting glucose (Lucozade) and long acting (Bread)
Severe - IV 10%Dextrose / IM Glucagon
Hyperglycaemia is another short term complication of T1DM. How would you manage using ‘Sick Day Rules’?
If CBG>14, then check serum ketones
No Ketones - have next meal as normal with insulin
Mild to Mod Ketones - Insulin Bolus of 10% TDD
Mod to Severe Ketones - Insulin Bolus of 20% TDD
State three broad categories of long term complications from T1DM
Macro vascular (CAD, Cerebrovasc Disease)
Micro vascular (Retinopathy, Neuropathy, Renal)
Infection related
What is Flash Glucose Monitoring?
Sensor measuring level of interstitial fluid in subcutaneous tissue
Requires a reader to swipe over sensor
Define DKA
Metabolic emergency characterised by Acidosis (pH<7.3 or Bicarbonate <15), Ketonaemia (>3 or ++) and BGC >11
How would a child in DKA present?
Preceding symptoms of triad for around 15 days
Lethargic, Nausea, Abdominal Pain, Vomiting
Describe the pathophysiology of DKA
Glucose cannot be used due to insulin deficiency
Causes rise on counter regulatory hormones (eg Cortisol) which worsens BGC
Hyperglycaemia causes Osmotic Diuresis and dehydration
State two characteristic features which may be seen on examination of a child in DKA
Kussmaul Breathing
Pear Drop Breath
What investigations would you want to do on a child in DKA?
Bedside Glucose
Blood Gas
Blood Glucose and Ketones
12 lead ECG
Describe the severity scoring in DKA
Mild - pH 7.2 to 7.29 (5% dehydration)
Mod - pH 7.1 to 7.19 (5% dehydration)
Severe - pH<7.1 (10% dehydration)
How should you treat children in DKA shock?
Initially 10ml/kg 0.9% Saline over 15 mins
Can repeat once before considering inotropes
How should you initially manage fluids of a child in DKA (no shock)?
Initially 10ml/kg over 30 mins
How do you calculate fluid deficit?
% x Weight x 10ml
Describe the use of insulin in DKA
If alert and well - Subcut Insulin
IV Insulin - delayed after at least an hour of fluids to reduce risk of cerebral oedema (0.05-0.1units/kg/h of Actrapid)
When pH normal/Ketones<1 start subcut insulin again and stop IV one hour later
See UHL guideline document - also has examples of fluid calculations
Give three complications of DKA in children
Cerebral Oedema (leading cause of death)
Hypokalaemia
Aspiration Pneumonia
Describe the criteria for overweight and obese in terms of Paediatric BMI
Overweight >91st Centile BMI
Obese >98th Centile BMI
State two endocrine causes of Obesity in childhood
Hypothyroidism
Cushing
State two genetic causes of Obesity in childhood
Prader Willi Syndrome
Bardet Biedl Syndrome
What would you want to know in a Paediatric Obesity history?
Birth weight
Feeding behaviours
Growth Pattern
Physical activity
Neurodevelopment
FH
What bloods might be done in childhood obesity?
TFTs
Cortisol
Lipid Profile
OGTT
How is childhood obesity managed?
Normally a while family approach to nutrition/lifestyle/exercise
What is Hypothyroidism?
Reduced thyroid hormones which are essential for development and functioning of brain and body
If undiagnosed can cause issues with intellect and neurodevelopment
What is Congenital Hypothyroidism?
Occurs in 1/3000 new borns
Can be due to dysgenesis (underdeveloped gland) or dyshormonogenesis
Screened on Guthrie
What can happen if Congenital Hypothyroidism is missed?
Prolonged neonatal jaundice
Poor feeding
Increased sleeping
Slow growth and development
The most common cause of acquired hypothyroidism is Hashimotos. How does this present?
Fatigue
Low Energy
Poor Growth
Poor School Performance
Constipation
Give three causes of Hyperthyroidism
Graves
Neonatal/Transient
McCune Albright Syndrome
Give two causes of Hyperthyroidism that are not due to excess hormone from the gland itself
Thyroiditis (may be drug induced)
Exogenous Thyroid Hormone
What is Graves?
Autoimmune disease with antibody against TSH receptor
What is Neonatal Hyperthyroidism?
Passive transfer of maternal thyroid antibodies from thyrotoxic mothers
How does Neonatal Hyperthyroidism present?
Irritable
Flushed
Tachycardia
Poor weight gain
How is Neonatal Hyperthyroidism managed?
Supportive therapy with beta blockers
What extra features are seen in Graves compared to other causes of Hyperthyroidism?
Diffuse Goitre
Opthalmology (Proptosis, Lid Lag, Opthalmoplegia)
Pretibial Myxoedema
How would you investigate hyperthyroidism?
TFTs
Thyroid Antibody Screen
Radionucleotide scan
ECG
Describe two different types of regimens in Hyperthyroidism treatment
Dose Titration
Block and Replace (at lowest dose necessary to stop thyroid and then replace with levothyroxine)
Normally requires 12-24 months of treatment before weaning
What is the most common cause of Cushings Syndrome in children?
Long Term Steroids (eg for Asthma or Nephrotic Syndrome)
Other causes such as Pituitary Adenoma and Adrenocortical tumours are rare
Name five clinical features of Cushing’s Syndrome
Growth Failure
Facial and Truncal Obesity
Hirsutism
Striae
HTN
State four investigations for Cushing’s Syndrome
Serum Cortisol (Loss of Diurnal Variation)
Increased 24h free cortisol
Plasma ACTH
Dexamethasone Suppression
Cushing’s Disease is managed by treating the underlying cause. What medication can you give if the underlying cause was a tumour?
Metyrapone
Define Congenital Adrenal Hyperplasia
Congenital deficiency in 21 Hydroxylase enzyme, causing under production of cortisol and aldosterone, and over production of androgens from birth
Describe the pathophysiology of CAH
The enzyme converts progesterone into aldosterone and cortisol
Excess progesterone will get converted to testosterone instead
Describe the features of mild CAH in a female
Tall for age
Facial hair
Absent periods
Deep voice
Early puberty
Describe the features of mild CAH in a male
Tall
Deep voice
Large Penis with Small Testes
Early puberty
How does severe CAH present in females?
Ambiguous genitalia and enlarged Clitoris
How is CAH managed?
Cortisol replacement (Hydrocortisone)
Aldosterone replacement (Fludrocortisone)
Corrective surgery for females of virilised
When do you investigate small height in children?
Height<0.4th Centile
1 SD below mid parental height
What are the respective fluid deficits for mild, moderate and severe DKA?
5%
7%
10%
How will you calculate child’s total fluid rate in DKA?
1) Calculate deficit (weight * dehydration*10)
2) Subtract initial bolus and divide by 48
3) Work out maintenance per day and divide by 24 to find hourly
4) Add 2 and 3 together
How does Gonadotrophin dependent precocious puberty present in boys?
High FSH and LH
Large Testes
How does Gonadotrophin independent precocious puberty present in boys?
Low FSH and LH
Small/Normal Testes
Give three normal variants of Paediatric Short Stature
Familial
Constitutionally Small
IUGR and catch up growth
Give four non endocrinology causes of Short Stature
Malnutrition
Medication (Steroids, Methylphenidate)
CKD
Coeliac
Give three endocrine causes of Short Stature
Cushing’s Disease
Hypothyroidism
GH shortage
Give three genetic causes of Short Stature
Turner
Prader Willi
Achondroplasia
Give two causes of Tall Stature in infancy
Maternal Diabetes
Beckwith Wiedemann
Give three endocrine causes of Tall Stature
GH excess
Hyperthyroidism
Androgen Insensitivity
Give three non endocrine causes of Tall Stature
Obesity
Klinefelters
Marfans
What Testicular Volume implies Puberty
> 4ml
Name two changes in puberty that may seem pathological but are in fact physiological
Thyroid Gland Enlargement
Gynaecomastia
What blood glucose levels are required to diagnose Diabetes?
Fasted >= 7
2 hours Post Prandial/OGTT >=11.1
HbA1c >= 48mmol or 6.5%
If a patient has been admitted and diagnosed with T1DM, what are the requirements for discharge?
- Check insulin administration
- Check BGC monitoring
- Advise on dietary choices
- Advise on symptoms and management of Hypoglycaemia
- Advise on sick day rules
When could you prescribe Orlistat for a child?
If they were over 12 and had SEVERE physical or psychiatric comorbidities
Describe 5 aspects of motivational interviewing an overweight child/parent
- Assess their view of the weight and reasons behind it
- Explore eating patterns and physical activity
- Explore any unhelpful beliefs
- Explore what they’ve tried/How it went/What they learnt
- Assess readiness and confidence to change
How can Delayed Puberty be investigated?
- Variety of bloods (inc Gonadotrophins, Prolactin, TFTs)
- Karyotyping
- GnRH stimulation
- Pelvis USS
- Bone scan
When do you minus rescucitation boluses used from replacement volume?
Only if child NOT in shock
Replacement = 10 x %dehyd + weight (-10ml/kg if not shocked)
Total daily req = maintenance + replacement/24
How should paediatric fluids be replaced in DKA
Over 24-48h as per local guidance
Divide replacement by either 24/48 and add to maintenance
If over 48h will require 2*maintenance
