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Endo Flashcards

1
Q

What is congenital adrenal hyperplasia (CAH)?

A

A group of autosomal recessive disorders caused by deficiencies in adrenal steroid synthesis enzymes.

Produce too little cortisol and/or aldosterone

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2
Q

What are the causes of congenital adrenal hyperplasia?

A

21-hydroxylase deficiency (90%)

Also = 11-b hydroxylase and 17-hydroxylase deficiency

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3
Q

What is the pathophysiology of congenital adrenal hyperplasia?

A

Low corticosteroids > anterior pituitary secretes high levels of ACTH > adrenal hyperplasia > increased production of adrenal androgens

  • LOW corticosteroids, HIGH androgens
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4
Q

What are the S/S of congenital adrenal hyperplasia?

A

> More obvious in girls
> Severity of sx depends on gene affected

Virilisation:

  • Female infants = clitoromegaly, fusion of labia
  • Male infants = enlarged penis, scrotum pigmented (much harder to see)
  • Tall stature
  • Muscular build
  • Deepened voice
  • Adult body odour
  • Early puberty / pubic hair / increased body hair
  • Acne
  • Irregular periods
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5
Q

What are the investigations for congenital adrenal hyperplasia?

A

Initial (ambiguous genitalia, no external gonads)

  • USS > examine internal genitalia

Confirmatory

  • Raised plasma 17a-hydroxyprogesterone
  • ACTH stimulation test - significant increase in 17-OHP

FBC, U&Es, BM, BG

  • Salt-losing crisis > low Na, high K
  • Metabolic acidosis > low bicarb
  • Hypoglycaemia > from low cortisol

Other

  • Karyotyping
  • Genetic testing
  • Antenatal testing - CVS/AC
  • High urea (dehydrated)
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6
Q

What is the management for congenital adrenal hyperplasia?

A

Medical

  • Life-long glucocorticoids (hydrocortisone)
  • Growth hormone
  • +/- mineralocorticoids
  • +/- NaCl supplementation prn
  • Additional hormone replacement at times of illness or surgery

Surgical

  • Genital surgery if required (delayed until after puberty)

Monitoring

  • Growth
  • Skeletal maturity
  • Plasma androgens and 17a-hydroxyprogesterone levels
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7
Q

What is diabetes?

A

Chronic metabolic disorder characterised by hyperglycaemia secondary to absolute or relative deficiency of insulin secretion

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8
Q

What are the RFs for diabetes?

A
  • Strong genetic influence
  • Autoimmune (80% have islet cell antibodies)
  • Environmental (mumps, rubella, coxsackie B4)
  • Associations = HLA DR-3, HLA-DR4, other autoimmune conditions, viral infections in pregnancy
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9
Q

What are the types of diabetes?

A

Type 1

  • Destruction of pancreatic beta-1 cells
  • 96% of DM children

Type 2

  • Insulin resistance
  • Usually in older children and obesity-related
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10
Q

What are the investigations for diabetes?

A

Urine dip = Glucose, nitrites, leucocytes, protein, ketones

Bloods = Glucose (fasting or OGTT)

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11
Q

What is the diagnostic criteria for diabetes?

A

Symptomatic + fasting glucose >=7
or
Symptomatic + random glucose >=11 (after 75g OGTT)
or
Asymptomatic + ^^ on 2 separate occasions

(HbA1c >6.5% / 48)

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12
Q

What are the RFs for neonatal hypoglycaemia?

A

· IUGR
· Maternal DM
· Premature
· Hypothermia
· Neonatal sepsis
· Inborn errors of metabolism
· Labetalol (pre-eclampsia)

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13
Q

What are the early S/S of DM?

A

‘Classical triad’

  • Polydipsia
  • Polyuria
  • WL

Less common:

  • Secondary enuresis
  • Skin sepsis
  • Candida (+other recurrent infections)

Type-2 specific:

  • Acanthosis nigricans
  • Skin tags
  • PCOS
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14
Q

What are the S/S of DKA?

A

LATE SIGNS / DKA

  • Abdominal pain
  • Vomiting
  • Dehydration
  • Acetone breath
  • Kussmaul breathing (rapid deep breathing)
  • Drowsiness progressing to coma
  • Hypovolaemic shock
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15
Q

What are the S/S of neonatal hypoglycaemia?

A

May be asymptomatic

  • Jittery
  • Irritable
  • Tachypnoea
  • Pallor
  • Poor feeding/sucking
  • Weak cry
  • Drowsy
  • Hypotonia
  • Seizures
  • Apnoea
  • Hypothermia
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16
Q

What is the management of T1D?

A

Insulin therapy:
1st line = multiple daily injection basal-bolus

  • Injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting or long-acting insulin analogue

2nd line = continuous SC insulin infusion (insulin pump)

  • Programmable pump / insulin storage device that gives regular or continuous amounts of insulin (usually rapid acting or short acting)

Blood glucose monitoring:

  • At least 5 capillary blood glucose per day
  • Fasting = 4-7, after meals = 5-9, driving = >5

Ongoing real-time continuous monitoring with alarms for children with:

  • Frequent severe hypoglycaemia
  • Impaired hypoglycaemic awareness
  • Inability to recognise / relay sx of hypoglycaemia (i.e. cognitive disability)

Healthy diet and exercise

  • Carbohydrate counting education (DAFNE)
  • 5 fruit and veg per day
  • Regular exercise (with insulin adjustment)

Psychological and Social Issues

  • Offer ongoing access to mental health services
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17
Q

What advice would you give regarding the management of diabetes?

A

Educational programme:

  • Long-acting = Glargine, Detemir
  • Short-acting = Lispro, Glulisine, Aspart
  • Method = gently pinch skin, inject at 45-degree angle
  • Rotate sites frequently to avoid lipohypertrophy (antero-lateral thigh, buttocks, abdomen)

‘Sick-day rules’

  • Explain the symptoms of DKA: N/V, abdominal pain, hyperventilation, dehydration, reduced consciousness
  • Change insulin dose
  • Offer blood ketone testing strips and a meter and advise testing for ketonaemia if they are ill or hyperglycaemic

Also

  • Recognition and tx of hypoglycaemia
  • Advise always carrying an immediate source of fast-acting glucose and blood glucose monitoring equipment (include parents + school nurses)
  • NOTE: alcohol is a risk factor for hypoglycaemia (they should eat carbohydrates before and after drinking)
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18
Q

What must be monitored in patients with diabetes?

A
  • Annual monitoring from 12yrs for diabetic retinopathy, nephropathy, HTN
  • HbA1c checked >4x per year
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19
Q

What is the management of neonatal hypoglycaemia?

A

Asymptomatic:

  • Encourage normal feeding (breast or bottle)
  • Monitor blood glucose

Symptomatic or very low blood glucose:

  • Admit to the neonatal unit
  • intravenous infusion of 10% dextrose
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20
Q

What is the management of hypoglycaemia in an older child?

A

Mild/moderate:

  • Give fast-acting glucose by mouth (usually liquid carbohydrate e.g. Lucozade)
  • May need to be given in small amounts if vomiting
  • Recheck blood glucose within 15 mins and repeat fast-acting glucose if hypoglycaemia persists
  • As symptoms improve, give oral complex long-acting carbohydrate to maintain blood glucose levels

Severe:

  • Treat in hospital
  • IV 10% glucose
  • Once symptoms improve, give oral complex long-acting carbohydrate

If NOT in hospital

  • IM glucagon or concentrated oral glucose solution (e.g. glucogel)
  • Seek medical help if blood glucose remains low after 10 mins
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21
Q

What is the management of T2D?

A

(1) Diet and exercise

(2) Oral monotherapy
1st line = Metformin

(3) Oral combination therapy
2nd line = sulphonylurea (Increases insulin secretion)

  • For non-obese
  • Glipalamide, Chlorpropamide, Tolbutamide

3rd line = glucosidase inhibitor > post-prandial hyperglycaemia

  • Acarbose

(4) Oral and injectable incretin mimetics

(5) Oral and insulin

(6) Insulin

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22
Q

What are the S/S of HHS?

A
  • Weakness
  • Leg cramps
  • Visual disturbances
  • N&V (less than in DKA)
  • Massive dehydration e.g. dry mucus membranes, confusion, lethargy
  • Focal neurological sx (seizures, coma)
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23
Q

What are the investigations for HHS?

A

Bloods = no hyperketonaemia, no acidosis

Serum osmolarity will be >320

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24
Q

What is DKA?

A

Hyperglycaemia, ketonuria, acidosis
BM > 11.1
Ketones > 3
pH < 7.3

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25
Q

What is the classification for DKA?

A

Mild DKA:

  • pH<7.3
  • 5% fluid deficit

Moderate DKA:

  • pH<7.2
  • 7% fluid deficit

Severe DKA:

  • pH<7.1
  • 10% fluid deficit
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26
Q

What are the causes of DKA?

A

> Anything that raises bodies need for insulin (lack of insulin = DKA)

  • Discontinuation / not enough insulin (i.e. anorexic T1DM that wants to lose weight)
  • Drugs (steroids, thiazides, SGLT-2 inhibitors)
  • Physiological stress (pregnancy, trauma, surgery)
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27
Q

What are the investigations for DKA?

A
  • Basic obs and full examination (check hydration status)
  • Urine dip - glucose, ketones
  • Blood gas - acidotic
  • Blood glucose - high
  • Blood ketones - high
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28
Q

What is the management of DKA?

A

EMERGENCY, ABCDE approach

  • IV 0.9% saline bolus for fluid resuscitation (10mk/kg - lower rate due to risk of cerebral oedema)
  • Maintenance fluids with 40mmol/L KCl (unless renal failure)
  • IV insulin (1hr after fluids)
  • Once glucose <14, switch to IV saline and 5% dextrose

> Monitor blood glucose, vital signs, fluid balance, and LOC every 1hr or every 30 mins if severe DKA / <2yrs

> Continuous ECG to monitor for hypokalaemia

> Oral fluids and SC insulin can be used if the child is ALERT, not nauseated or vomiting, and not clinically dehydrated

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29
Q

What are the complications of DKA treatment?

A

Cerebral oedema:

  • S/S > headache, agitation, irritability, Cushing’s triad, high ICP signs
  • Mx > mannitol or hypertonic saline, restrict fluid intake

Hypokalaemia (<3mm/L):

  • Mx > stop insulin temporarily

Also:

  • Aspiration pneumonia
  • Inadequate resuscitation
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30
Q

What is delayed puberty?

A

Lack of any pubertal signs (secondary sexual characteristics, accelerated linear growth, increase in secretion of sex hormones, maturation of gonads, potential for reproduction)

  • 13yrs in girls
  • 14yrs in boys
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31
Q

When do you refer for faltering growth?

A

If >=75th centile, refer once centile drops >=3
If 25-75th centile, refer once centile drops >=2
If <25th centile, refer once centile drops >=1

32
Q

What are the causes of delayed puberty?

A

Functional (most commonly):

  • Constitutional delay of growth and puberty (CDGP): Low bone age, no puberty signs, no organic causes, FHx - most common cause in boys
  • Chronic disease / malnutrition
  • Psychiatric: Excessive exercise, depression, AN

Hypogonadotropic (low LH/FSH) hypogonadism

  • Hypothalamo-pituitary disorders: Panhypopituitarism, intercranial tumours
  • Kallmann’s syndrome (LHRH deficiency and anosmia)
  • Prader-Willi
  • Hypothyroidism

Hypergonadotropic (high LH/FSH) hypogonadism

  • Congenital: Cryptorchidism, Klinefelter’s, Turner’s
  • Acquired: Testicular torsion, chemo, infection, trauma, autoimmune
33
Q

What are the investigations for delayed puberty?

A

Initial examination:

  • Charting (height, weight, mid-parental height)
  • Note dysmorphic features
  • Prader’s orchidometer for boys / Tanner staging for girls

Bloods:

  • Gonadotrophin-dependant vs independent > LH and FSH levels
  • TSH, prolactin, testosterone

Imaging:

  • Bone age (from wrist XR)
  • MRI brain

+Karyotyping

34
Q

What is the management for delayed puberty?

A

CDGP > most don’t need tx, great prognosis:

  • 1st line = reassure and offer observation
  • 2nd line = short course of sex hormone therapy
  • Boys > IM testosterone (every 6wks for 6m)
  • Girls > transdermal oestrogen (6m) then cyclical progesterone once established

Primary testicular / ovarian failure:

  • Pubertal induction > regular hormone replacement
  • Boys > regular testosterone injections
  • Girls > oestrogen replacement (gradual)

+Address psychological concerns

35
Q

What is precocious puberty?

A

Early normal puberty:

  • Girls = 8< age >=10
  • Boys = 9< age >=12

Precocious puberty:

  • Girls = age <8
  • Boys = age <9
36
Q

How is puberty determined?

A

GIRLS = Tanner’s 5 breast development stages:

  • Stage 1 = flat
  • Stage 2 = buds appear, breast and nipple raised, fat forms, areola enlarged
  • Stage 3 = breasts grow larger (conical > rounder shape)
  • Stage 4 = nipple and areola raise above the mound, menstruation within 2yrs of this stage
  • Stage 5 = mature adult breast is rounded, and only nipple is raised

BOYS = Prader’s orchidometer (testicular development)

37
Q

What are the causes of precocious puberty?

A

Gonadotropin-Dependant Precocious Puberty (GDPP)
Due to premature activation of HPG axis - LH/FSH raised

  • Idiopathic
  • CNS abnormalities (tumours, trauma, infection, cyst)

Gonadotrophin-Independent Precocious Puberty (GIPP)
Due to excess sex hormones - LH/FSH low

  • Ovarian / testicular / adrenal cyst or tumour
  • Dysfunction of other glands: Adrenal (CAH, Cushing’s), thyroid
  • b-hCG-secreting tumour of liver
  • McCune-Albright syndrome (multiple endocrinopathy of thyrotoxicosis, Crushing’s, acromegaly)
  • Exogenous hormones: COCP, testosterone gels

Benign isolated precocious puberty (self-limiting)
Premature thelarche (isolated breast development before 8yrs, usually 6m-2yrs)

  • Spontaneously regresses
  • Absence of other pubertal signs
  • Normal USS of uterus
  • Normal growth

Premature pubarche/adrenarche (isolated pubic hair development before 8yrs (F) or 9yrs (M))

  • Due to early adrenal androgen secretion in middle childhood
  • More common in Asian or Afro-Caribbean

Premature menarche (isolated vaginal bleeding before 8yrs)

38
Q

What are the investigations for precocious puberty?

A

GOLD STANDARD = GnRH stimulation test

  • FSH, LH low = GIPP
  • FSH, LH high = GDPP

Also:

  • Tanner Staging / Prader orchidometer
  • Wrist XR (non-dominant) for skeletal age
  • General hormone profile (basal LH/FSH, serum testosterone and oestrogen)
  • Urinary 17-OH progesterone if CAH suspected
  • Pelvic USS (rule out gonadal tumours/cysts)
  • MRI (intracranial tumours)
39
Q

What does testicular size suggest about the cause of precocious puberty?

A
  • Bilateral enlargement = Gonadotropin release from intracranial lesion (i.e. optical glioma in NF1)
  • Unilateral enlargement = gonadal tumour
  • Small testes = adrenal cause (tumour or CAH)
40
Q

What is the management of precocious puberty?

A

>Refer to paediatric endocrinologist

GDPP with no underlying pathology:

  • NO treatment

GDPP:

  • Referral and treatment of underlying cause
  • +GnRH agonist e.g. leuprorelin
  • Consider GH

GIPP:

  • McCune Albright or Testotoxicosis: 1st = ketoconazole
  • CAH: Hydrocortisone + GnRH agonist
  • Tumours = refer to specialist
  • Exogenous oestrogen or androgens = identify and discontinue agent
41
Q

What is skeletal dysplasia?

A

A group of over 350 disorders leading to various degrees of dwarfism (height < 2 S.D. below the mean)

42
Q

What is Achondroplasia?

A

Most common skeletal dysplasia / form of dwarfism

  • Short stature
  • Disproportionally short arms and legs
  • Large head, frontal bossing
  • Torso is normal length
  • +/- hydrocephalus
  • Depression of nasal bridge
  • Marked lumbar lordosis
  • Short, broad hands
  • ‘Trident hands’
43
Q

What is Hypochondroplasia?

A

Milder form of achondroplasia

44
Q

What is osteogenesis imperfecta?

A

Genetic disorder that affects bone development and causes bones to be brittle and fragile (break easily)

  • Short stature
  • Blue sclera
  • Muscle weakness
  • Joint laxity
  • Hearing loss
  • Breathing problems

7 types.

45
Q

What genetic mutations can cause skeletal dysplasia?

A

Mutated FGFR3 (fibroblast growth factor receptor 3):

  • Achondroplasia / hypochondroplasia
  • Autosomal dominant
  • Causes severe bone shortening through constitutively active receptors

SHOX (short stature homeobox) gene defects:

  • Turner’s = 1 less SHOX, Klinefelter’s = >2 SHOX genes
  • X-linked
  • Idiopathic short stature thought to be due to polymorphisms in this gene
46
Q

What is a RF for skeletal dysplasia?

A

Advancing parental age at conception

47
Q

What must be excluded if there is isolated short stature in a girl?

A

Must exclude Turner’s (karyotype)

48
Q

What are the investigations for Achondroplasia?

A
  • Usually based on physical characteristics and measurements
  • Prenatal: Scans (not apparent until >22wks so may be missed), CVS/AC for mutation
  • XR = metaphyseal irregularity (inverted V metaphysis = ‘chevron deformity’), flaring in long bones, late-appearing irregular epiphyses
  • Genetic testing for confirmation
49
Q

What is the management of Achondroplasia?

A

Condition specific centile charts (final height = 80-150cm), prone to weight gain

Regular follow-up (complications)

  • Gross motor skill delay
  • Risks from hydrocephalus
  • Kyphosis
  • Obesity
  • Early osteoarthritis
  • ENT issues
50
Q

What is the management of osteogenesis imperfecta?

A

Bisphosphonates

51
Q

What are the causes of congenital hypothyroidism?

A

Thyroid gland defects (75%)

  • Missing, ectopic/poorly developed
  • Not inherited

Disorder of thyroid hormone metabolism (10%)

  • TSH unresponsive / defects in TG structure
  • Inherited

Hypothalamic or pituitary dysfunction (5%)

  • Tumours, ischaemic damage, congenital defects

Transient hypothyroidism (10%)

  • Maternal medication (carbimazole), maternal Abs (e.g. Hashimoto’s)
52
Q

What are the S/S of congenital hypothyroidism?

A
  • Feeding difficulties
  • Lethargy
  • Constipation
  • Large fontanelle
  • Myxoedema
  • Nasal obstruction
  • Low temperature
  • Jaundice
  • Hypotonia
  • Pleural effusion
  • Short stature
  • Oedema
  • +/- goitre, +/- congenital defects

Unique sx > coarse features, macroglossia, umbilical hernia

53
Q

What are the investigations for congenital hypothyroidism?

A
  • High TSH
  • Low T4
  • Measure thyroid autoantibodies +/- US or radionucleotide scan
54
Q

What is the management of congenital hypothyroidism?

A
  • Levothyroxine OD > titrate dose to TFTs + regular monitoring
  • Monitor growth, milestones, development
55
Q

What is the main cause of acquired hypothyroidism?

A

Hashimoto’s autoimmune thyroiditis

56
Q

What syndromes are associated with Hashimoto’s?

A

Down’s Syndrome, Turner’s

57
Q

What are the S/S for Hashimoto’s?

A

Growth failure, excess weight gain, short stature

58
Q

What are the investigations for Hashimoto’s?

A

anti-TPO and anti-Tg antibodies

59
Q

What is the main complication of Hashimoto’s?

A

Associated with the development of MALT lymphoma

60
Q

What are the S/S of hyperthyroidism?

A

Foetus > high CTG trace and foetal goitre on USS

Newborn (<2wks) > irritability, WL, tachycardia, HF, diarrhoea, exophthalmos

61
Q

What is the management of hyperthyroidism?

A

Carbimazole or propylthiouracil

  • Both associated with neutropenia
  • Safety net to seek medical attention / blood count if sore throat or fever while on tx

Also:

  • Beta-blockers may be considered for symptomatic relief
  • Medical treatment is usually given for around 2 years
  • Other options = radioiodine tx, surgery

NOTE: neonatal hyperthyroidism may occur due to the transplacental transfer of TSIs

62
Q

What is the management of hypocalcaemia?

A

MANAGEMENT of Acute Symptomatic Hypocalcaemia

  • IV calcium gluconate

MANAGEMENT of Chronic Hypocalcaemia

  • Oral calcium + high dose vitamin D analogues

IMPORTANT: avoid hypercalciuria because it can lead to nephrocalcinosis so urinary excretion should be monitored

63
Q

What is the management of severe hypercalcaemia?

A

Rehydration
Diuretics
Bisphosphonates

64
Q

How is obesity classified?

A

Severely obese = 99th centile
Obese = >95th centile
Overweight = 85-94th centile

65
Q

What are RFs for obesity?

A

Low socioeconomic status
Poor diet
Genetics
Little exercise

66
Q

What are the investigations for obesity?

A
  • Growth chart plotting > BMI percentile chart, adjusted to age and gender
  • Nutritional assessment > BMI, triceps skinfold thickness
  • Bloods > cholesterol, triglyceride levels, endocrine assays for conditions e.g. adrenal disease
  • Urine > glucosuria (T2DM)
  • Radiology > USS/CT/MRI head for specific conditions / syndromes
67
Q

What is the management for obesity?

A

>Exclude underlying medical condition

Conservative:

  • Self-esteem and confidence building (early intervention is key)
  • Address lifestyle (food diary > address where they eat too much)

Therapeutic aims:

  • Reduce excess weight whilst not compromising growth needs
  • Dietary counselling with vitamin and micronutrient supplementation
  • Behaviour modification
  • Stepwise physical activity programme
  • Strong support from child and family
  • Fat intake <30% of total calories

Surgical: Not recommended in young people

68
Q

What are the complications of obesity?

A
  • Psychosocial > bullying, discrimination, isolation
  • Growth > advanced bone age, increased height, early menarche
  • Resp > sleep apnoea, Pickwickian syndrome
  • Ortho > slipped capital femoral epiphysis, Blount disease
  • Metabolic > insulin resistance
  • Hepatobiliary > hepatis steatosis, gallstones
69
Q

What is rickets?

A

Impaired skeletal growth through inadequate mineralisation of bone laid down at the epiphyseal growth plates

70
Q

What are the causes of rickets?

A

Calcium deficiency:

  • Dietary
  • Malabsorption

Vitamin D defects:

  • Deficiency > diet, malabsorption, lack of sunlight, iatrogenic (drug induced > phenytoin therapy)
  • Metabolic > 1-alpha hydroxylase deficiency, liver disease, renal disease
  • Defect in action > HVDRR (hereditary vitamin D receptor resistant) rickets

Phosphate deficiency:

  • Reduced intake
  • Renal tubular phosphate loss > hypophosphatemic rickets (X-linked, AR, AD)
  • Acquired hypophosphatemic rickets > Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs
71
Q

What are the S/S of rickets?

A
  • Growth delay or arrest
  • Bone pain, fracture
  • Swelling wrists/costochondral junctions (rickets rosary)
  • Bowed long bones
  • Frontal bossing
72
Q

What are the investigations for rickets?

A

X-ray

  • Thickened and widened epiphysis / joint widening
  • Cupping metaphysis
  • Bowing diaphysis

Biochemical:

  • Reduced Ca and phosphate
  • Raised ALP
73
Q

What is the management of rickets?

A

Prevention:

  • Infants receive daily Vit D in formula / multivitamin, pregnant/lactating women receive 400iu/day

Dietary sources:

  • Fatty fish (herring, mackerel, salmon, tuna), egg yolk, fortified foods, shop bought milk, cereals

Correct low vit D levels with increased intake:

  • Ca supplements
  • Oral vit D2 (ergocalciferol) or oral vit D3 (cholecalciferol)

Periodic measurement of serum Ca, phosphate, ALP, urine Ca : creatinine ratio

74
Q

What is a salt losing crisis ?

A

Life-threatening condition that occurs when the adrenals do not produce enough aldosterone

  • Often first sign in boys > 1-3wks of age
  • Can cause dangerous drop in BP and electrolyte imbalances
  • Vomiting, WL, hypotonia, dehydration, low BP, irregular HR
75
Q

What is the management of an acute salt losing crisis?

A
  • IV saline
  • IV hydrocortisone
  • IV dextrose

Paeds (18 decks)

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