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MRCPCH Clinicals > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is Addison disease

A

Primary adrenal cortical insufficiency

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2
Q

What are the causes of Addison disease

A

Autoimmune process
Haemorrhage/infarction
X-linked adrenoleucodystrophy, a neurodegenerative metabolic disorder
TB (now rare)

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3
Q

Which conditions can cause a similar picture to Addison disease?

A

Hypopituitarism or hypothalamic-pituitary-adrenal suppression from long term steroid therapy.

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4
Q

What are the features of acute presentation of Addison disease?

A 
Hyponatraemia
Hyperkalaemia
Hypoglycaemia
Dehydration
Hypotension
Circulatory collapse
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5
Q

What are the chronic clinical features of Addison disease?

A

Vomiting
Lethargy
Brown pigmentation in gums, scars, skin creases
Growth failure

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6
Q

What are the tests to diagnose Addison disease?

A

Low plasma cortisol
High ACTH
Abnormal short synacthen test

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7
Q

How is an addisonian crisis managed?

A

IV saline
Glucose
Hydrocortisone

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8
Q

What is the long term management of Addison disease?

A

Glucocorticoid and mineralocorticoid replacement

Increase glucocorticoid at times of stress

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9
Q

What is the cause of PKU?

A

Either due to a deficiency of the enzyme phenylalanine hydroxylase (classical PKU) or in the synthesis or recycling of the biopterin cofactor for the enzyme

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10
Q

How does PKU present?

A

Developmental delay at 6-12 months
Musty odour (due to the metabolite phenylacetic acid)
Some develop eczema and seizures
Many blue eyed and fair haired

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11
Q

How is classical PKU treated

A

Restrict dietary phenylalanin

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12
Q

How is PKU with cofactor defects treated?

A

Diet low in phenylalanine and neurotransmitter precursors

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13
Q

Which form of PKU has a worse prognosis?

A

Cofactor defect

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14
Q

What causes homocystinuria?

A

cystathionine synthetase deficiency

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15
Q

How does homocystinuria present?

A 
Developmental delay
Subluxation of the ocular lens (ectopia lentis)
Progressive learning difficulty
Psychiatric disorders
Convulsions
Skeletal issues similar to Marfan
Fair complexion with brittle hair
Thromboembolic episodes
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16
Q

How is homocystinuria managed?

A

Almost half respond to large doses of the coenzyme pyridoxine
Those who don’t respond are given a low methionine diet supplemented with cysteine and the re-methylating agent betaine

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17
Q

How is tyrosinaemia inherited?

A

Autosomal recessive

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18
Q

What causes tyrosinaemia?

A

deficiency of fumarylacetoacetase

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19
Q

What are the sequelae of tyrosinaemia?

A

Accumulation of toxic metabolites leads to: Liver failure and Fanconi syndrome
Fatal if untreated

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20
Q

How is tyrosinaemia managed?

A

NTBC - inhibits an enzyme required in the catabolism of tyrosine
Diet low in tyrosine and phenylalanine

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21
Q

Where is the hypothalamus located?

A

Between prep-tic area and the mamillary bodies

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22
Q

What are the 3 lobes of the pituitary called and what does each produce?

A

Anterior:ACTH, GH, LH, FSH, TSH
, Prolactin
Intermediate Posterior: Oxytocin, ADH

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23
Q

What is congenital adrenal hyperplasia?

A

a number of inherited defects in adrenal steroidogenesis, which cause impaired synthesis of cortisol from cholesterol in the adrenal cortex

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24
Q

What is the most common defect in CAH?

A

21 hydroxylase deficiency

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25
Q

What are the biochemical consequences of CAH

A

Lack of cortisol and aldosterone

Increased adrenocortical stimulation by CRH and ACTH, which induces adrenal gland hyperplasia

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26
Q

How is CAH inherited?

A

Autosomal recessive

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27
Q

How does CAH usually present

A

Salt losing crisis: hyponatraemia, hyperkalaemia, hypoglycaemia, acidosis and shock
BG of vomiting, weight loss, FTT
Usually at 1-4 weeks

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28
Q

What are the non salt losing crisis features of CAH in females?

A 
Clitoromegaly
Early development of pubic hair
Hirsutism
Acne 
Increased growth rate
Advanced bone age
Gynaecological problems e.g. oligomenorrhoea, abnormal menses or infertility
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29
Q

What are the non-crisis features of CAH in boys?

A

early penile growth, pubic hair, increased growth rate, increased musculature

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30
Q

How is CAH diagnosed?

A

17-OHP levels
ACTH stimulation test
Urine steroid profile

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31
Q

How is the acute salt losing crisis in CAH managed

A

Restore volume with normal saline and glucose
Correct hypoglycaemia
Replace fluid and electrolytes over 24-48 hours
Hyperkalaemia may need correction with salbutamol, insulin, glucose and calcium
Bolus hydrocortisone IV
Treat precipitating stress

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32
Q

How is CAH managed?

A

Glucocorticoids and mineralocorticoids, extra steroids in periods of stress

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33
Q

What are the causes of congenital hypothyroidism

A

Most common: maldescent of thyroid and athyrosis
Dyshormonogenesis
Iodine deficiency
TSH deficiency

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34
Q

How does congenital hypothyroidism present?

A 
Usually asymptomatic and picked up on screening
Failure to thrive
Feeding problems
Prolonged jaundice
Constipation
Pale, cold, mottled dry skin
Coarse facies
Large tongue
Hoarse cry
Goitre (occasionally)
Umbilical hernia
Delayed development
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35
Q

What’s the difference between Cushing syndrome and Cushing disease?

A

○ Syndrome = cortisol excess

Disease = due to a pituitary ACTH producing tumour (adenoma)

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36
Q

What are the clinical features of Cushing syndrome?

A 
Central obesity
Buffalo hump
Purple striae
Hypertension
Osteoporosis
Hypogonadism
Growth failure
Muscle wasting/hypotonia
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37
Q

What investigations should be done for Cushing syndrome

A

24h urine cortisol
Dexamethasone suppression test
MRI of brain
CT of adrenals

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38
Q

How much do you adjust a parent’s height for to calculate mid parental height?

A

13cm

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39
Q

What are the three main groups of causes of delayed puberty?

A

Constitutional delay
Gonadotrophin deficiency
Primary gonadal failure

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40
Q

What are the causes of gonadotrophin deficiency?

A

Severe and chronic undernutrition
Chronic illness
Endocrine conditions e.g. hypothyroidism
In boys particularly: Isolated gonadotrophin deficiency, Kallman syndrome

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41
Q

What are the causes of primary gonadal failure in boys?

A

Klinefelter
Cryptorchidism
Previous testicular torsion
Post radiation

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42
Q

What are the causes of primary gonadal failure in girls?

A

Turner’s
Autoimmune damage to ovaries
Total body irradiation or chemo

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43
Q

How is galactosaemia inherited?

A

Recessive

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44
Q

What is the cause of galactosaemia?

A

deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is needed for galactose metabolism

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45
Q

How does galactosaemia present?

A

When lactose-containing milk feeds are introduced, they cause poor feeding, vomiting, jaundice and hepatomegaly and hepatic failure

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46
Q

What are the consequences of untreated galactosaemia?

A

Chronic liver disease
Cataracts
Developmental delay

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47
Q

How is galactosaemia managed?

A

Lactose and galactose free diet for life

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48
Q

How are glycogen storage disorders inherited?

A

Recessive

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49
Q

What are the causes of glycogen storage disorders

A

9 main enzyme defects, all of which prevent mobilisation of glucose from glycogen, resulting in an abnormal storage of glycogen in liver and/or muscle

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50
Q

Which organs are most affected by glycogen storage disorders?

A

Muscle
Cardiac muscle
Liver

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51
Q

How are glycogen storage disorders managed?

A

Maintain blood glucose by frequent feeds or by carbohydrate infusion via a gastrostomy or nasogastric tube
In older children, glucose levels can be maintained with slow release oligosaccharides
In type II, enzyme replacement is available
In type III, a high protein diet is needed to prevent growth retardation and myopathy

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52
Q

What are the 5 broad groups of disorders of sexual development?

A

46XX DSD: genetic females with ambiguous or male phenotype
46XY DSD: genetic males with ambiguous or female phenotype
Ovotesticular DSD: usually 46XX, genitalia usually ambiguous, gonads contain both ovarian and testicular components
Sex chromosome and aneuploidy DSD: e.g. 45X/46XY mosaicism with one streak gonad and one dysgenetic testis
Other: Dysmorphic syndromes, Cloacal anomalies, Bladder exstrophy

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53
Q

What is the most common disorder of sexual development?

A

CAH female

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54
Q

Where does a craniopharyngioma come from?

A

Arises from the craniopharyngeal cleft, which develops from the fusion of Rathke’s pouch and the infundibulum

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55
Q

What are the usual histological features of a craniopharyngioma?

A 
Calcified
Cystic
Slow growing
Squamous epithelial
Extra axial
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56
Q

How big is a craniopharyngioma before symptoms appear?

A

3cm

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57
Q

When do craniopharyngiomas usually present?

A

5-14 years

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58
Q

What are the symptoms of craniopharyngioma?

A

Headache, mainly in the morning, accompanied by projectile vomiting
Endocrine hypofunctions e.g. growth disturbance
○ Visual symptoms e.g. bitemporal hemianopia, unilateral temporal hemianopia, loss of acuity, diplopia or blurring of vision
Diabetes insipidus
Trouble waking
Loss of balance
Difficulty walking
Change in energy level
Sleepiness
Hearing loss
Change in personality

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59
Q

How are craniopharyngiomas managed

A

Surgery
Radiation
Chemo
Hormone replacement

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60
Q

How is CHARGE syndrome inherited?

A

AD

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61
Q

What makes up CHARGE syndrome?

A

○ Colobomatous malformation of the eye (retinal coloboma most common)
Heart anomalies e.g. ToF
Atresiae of the choanae
Retardation: cognitive and somatic growth
Genital anomalies and/or hypoplasia
Ear anomalies and/or deafness

and often hypopituitarism

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62
Q

Which gene is responsible for CHARGE syndrome?

A

2/3 have mutation of CHD7

63
Q

What is the most common mutation in combined pituitary hormone deficiency?

A

PROP1

64
Q

How is septo-optic dysplasia defined?

A

Heterogeneous disorder with two or more of a classical triad of:

  • Hypoplasia of the optic nerves
  • Hypoplasia of the pituitary gland with variable levels of hypopituitarism
  • Absence of septum pellucidum and/or agenesis of corpus callosum
65
Q

What are the clinical features of septo-optic dysplasia?

A

Neurological abnormalities
Wandering nystagmus
Endocrine deficiencies

66
Q

How are the endocrine deficiencies in septo-optic dysplasia managed?

A

Hydrocortisone replaced before others to avoid precipitating an adrenal crisis

67
Q

What is the defect in holoprosencephaly?

A

failure of the prosencephalon to divide adequately into 2 halves, which usually happens at 3-4 weeks’ gestation

68
Q

What are the three subtypes of holoprosencephaly?

A

Alobal: thalami are fused with one ventricle, and facial anomalies such as cyclopia
Semilobar: more separation than alobar, but still fusion anteriorly including fused thalami, and absence of olfactory tracts and corpus callosum
Lobar: fusion of the cingulate gyrus and thalami, with absent or hypoplastic olfactory tracts and absent/hypoplastic corpus callosum

69
Q

What are the clinical features of holoprosencephaly

A 
Hypotonia
Hypothalamic dysfunction
Microcephaly
Pituitary deficiency including diabetes insipidus
Epilepsy
Feeding difficulties
Spina bifida
Sleep disturbance
Developmental delay
70
Q

What’s the prognosis in holoprosencephaly?

A

• Half of children with semilobar or lobar forms live beyond 12 months

71
Q

How is type 1 MEN/ Werner syndrome inherited?

A

AD

72
Q

What are the associations with Werner syndrome?

A

○ Pancreatic: gastrinoma, insulinoma
Pituitary
Parathyroid

73
Q

What causes Werner syndrome?

A

mutations in MEN1 gene which codes for menin, a tumour suppressor

74
Q

What are the associations with type 2 MEN (Sipple syndrome)

A

Medullary thyroid cancer
Parathyroid
Phaeochromocytoma

75
Q

What causes Sipple syndrome?

A

Mutations in RET gene

76
Q

What are the phenotypic features of MEN2b?

A

Marfanoid habitus
Skeletal abnormalities
Abnormal dental enamel
Multiple mucosal neuromas

77
Q

What does PTH do normally?

A

Promotes bone formation via osteoblasts

78
Q

What does PTH do when calcium is low?

A

Promotes bone resorption via osteoclasts
Increases renal uptake of calcium
Activates metabolism of vitamin D

79
Q

What does vitamin D do to raise calcium?

A

Promotes gut absorption of calcium
Increases osteoclastic bone resorption
Inhibits PTH secretion and hence increases 1 alpha hydroxylation

80
Q

What are the biochemical features in hypoparathyroidism?

A

Low serum calcium
Raised serum phosphate
Normal ALP
PTH is very low

81
Q

What are the clinical features of severe hypocalcaemia?

A

Muscle spasm
fits
Stridor
Diarrhoea

82
Q

What are the causes of hypoparathyroidism?

A

In infants, usually due to a congenital deficiency e.g. DiGeorge syndrome
In older children, usually autoimmune and associated with Addison disease

83
Q

What is the defect in pseudohypoparathyroidism

A

End organ resistance to PTH caused by a mutation in a signalling molecule

84
Q

What are the biochemical features of pseudohypoparathyroidism?

A

Serum calcium and phosphate are low, but PTH levels are normal or high

85
Q

What are the clinical features of pseudohypoparathyroidism

A 
Short stature
Obesity
Subcutaneous nodules
Short fourth metacarpals
Learning difficulties
Teeth enamel hypoplasia
Calcification of the basal ganglia
86
Q

What are the features of pseudopseudohypoparathyroidism?

A

Physical characteristics of pseudohypoparathyroidism but serum calcium, phosphate and PTH are all normal

87
Q

How is hypoparathyroidism treated?

A

Calcium and vit D

88
Q

What are the features of hyperparathyroidism?

A 
Causes high calcium, which in turn causes:
Constipation
Anorexia
Lethargy
Behavioural disturbance
Polyuria
Polydipsia
Bony erosions of phalanges can be seen on XR
89
Q

What are the causes of hyperparathyroidism?

A

In neonates and young children, associated with some rare genetic diseases e.g. William syndrome
In older children, can be related to MEN or adenomas

90
Q

How is severe hypercalcaemia treated?

A

Rehydration, diuretics and bisphosphonates

91
Q

What are the features of hypercalcaemia?

A 
Anorexia
Constipation
Polyuria
Nausea
Vomiting
Failure to thrive
92
Q

What are the causes of hypercalcaemia

A 
Low PTH:
Vitamin D intoxication
Infantile hypercalcaemia
Transient
 Williams syndrome
 Associated with tumours

High PTH:
Primary hyperparathyroidism
Familial hypocalciuric hypercalcaemia

93
Q

What are the causes of rickets?

A

Hypocalcaemia
Phosphopenia
Abnormal bones
Renal osteodystrophy

94
Q

How is precocious puberty defined?

A

<8 years in girls

<9 years in boys

95
Q

What is true precocious puberty?

A

when the hypothalamic control mechanism for puberty (the GnRH pulse generator) is prematurely turned on, leading to early gonadal maturation

96
Q

What is pseudoprecocious puberty?

A

Gonadotrophin independent precocious puberty

97
Q

In which gender is true precocious puberty more common?

A

Girls

98
Q

What is the cause of achondroplasia?

A

Caused by mutations in the FGFR3 gene, which provides the instructions for making a protein involved in the maintenance and development of brain and bone tissue

99
Q

How is achondroplasia inherited?

A

AD, but new mutations in 80%

100
Q

What are the features of achondroplasia

A 
Megalocephaly
Short limbs
Prominent forehead
Thoracolumbar kyphosis
Midfacial hypoplasia
Disproportionate short stature
Diminishing interpeduncular distances between L1 and L5
101
Q

What are the complications of achondroplasia?

A

Short stature
Dental malocclusion
Hydrocephalus
Repeated otitis media

102
Q

What is hypochondroplasia?

A

Rhizomelic short stature, distinct from achondroplasia

103
Q

What is the cause of hypochondroplasia?

A

70% affected have mutations in FGFR3

104
Q

What are the clinical features of hypochondroplasia?

A

Stocky or muscular appearance
Usually recognised at age 2-3
Wide variability in severity
No change in interpeduncular distances between L1 and L5

105
Q

How are the mucopolysaccharidoses inherited?

A

AR or X linked recessive

106
Q

What is the cause of the mucopolysaccharidoses?

A

Result from enzyme deficiences that break down the complex carbohydrates called glycosaminoglycans

107
Q

What are the clinical features of mucopolysaccharidoses

A

Depend on the type:
Short spine and limbs
Coarse facial features
Reduced intelligence and abnormal behaviour in some forms
Hurler - shortened lifespan
Marked skeletal abnormalities and severe short stature in Morquio syndrome

108
Q

How is Russell-Silver syndrome inherited?

A

Sporadic, may relate to chr7 or 11, or parental specific expression

109
Q

What is the main feature of Russell-Silver syndrome?

A

Prenatal onset short stature

110
Q

What are the clinical features of Russell-Silver syndrome?

A 
Limb asymmetry
Short incurved 5th finger
Small triangular face
Café au lait spots
Normal intelligence
Bluish sclerae in early infancy
111
Q

What is Turner syndrome?

A

45XO (or XO/XX or XO/XY) karyotype associated with short stature, ovarian dysgenesis and dysmorphic features

112
Q

How is Turner syndrome inherited?

A

Sporadically

113
Q

What are the features of Turner syndrome?

A 
Neonatal lymphedema of hands and feet
Skeletal anomalies
Facial anomalies
Specific space-form perception defect
Endocrine defects
114
Q

What are the skeletal anomalies associated with Turner syndrome?

A 
Short stature
Widely spaced nipples
Shield-shaped chest
Wide carrying angle
Short 4th metacarpal
Hyperconvex nails
115
Q

What are the facial features of Turner syndrome?

A 
Prominent, backward rotated ears
Squint
Ptosis
High arched palate
Low posterior hairline
Webbed neck
116
Q

What are the endocrine defects seen in Turner syndrome?

A

Autoimmune diseases
T2DM
Infertility and pubertal failure

117
Q

What are the associated conditions with Turner syndrome?

A

Horseshoe kidneys
Coarctation of the aorta
Excessive pigmented nave

118
Q

What causes short stature with delayed bone age?

A

Constitutional delay

119
Q

What causes short stature with advanced bone age?

A

Precocious puberty
Androgen excess e.g. CAH
GH excess

120
Q

What causes Prader Willi?

A

Deletion from paternally derived long arm of chromosome 15q

121
Q

What are the clinical features of Prader willi?

A 
Neonatal hypotonia
 Feeding difficulties in newborn period
Obesity (food seeking behaviour)
Hypogonadism
Tendency to diabetes mellitus
Strabismus
Characteristic facies
Orthopaedic abnormalities
Reduced IQ, usually 40-70
Behavioural difficulties
Insulin resistance
122
Q

What are the facial features of Prader Willi?

A 
§ Narrow forehead
Olive-shaped eyes
Anti-mongoloid slant
Carp mouth
Abnormal ear lobes
123
Q

What are the orthopaedic features of Prader Willi?

A

Small, tapering fingers
Congenital dislocation of the hips
Retarded bone age

124
Q

What is the cause of Bardet-Biedl?

A

At least 14 different gene mutations

Often referred to as BBS genes - involved in structure and function of cilia

125
Q

What are the clinical features of Bardet-Biedl?

A 
Learning disability
Obesity - marked by 4 years of age
Retinitis pigmentosa/strabismus
Polydactyly/clinodactyly
Moderate short stature
Hypogonadism
126
Q

What problems are associated with Bardet-Biedl?

A

Renal anomalies

Diabetes insipidus

127
Q

What is the cause of Beckwith-Wiedemann syndrome?

A

Usually occurs with abnormal regulation of genes on chromosome 11
Up to 20% of case are due to paternal uniparental disomy

128
Q

What are the clinical features of Beckwith-Wiedemann?

A 
Large birthweight
Transient hyperinsulinism
Macrosomia
Linear fissures on ear lobes
Umbilical hernia/exomphalos
Hemihypertrophy
129
Q

What problem is Beckwith-Wiedemann associated with?

A

Wilms tumour

130
Q

What are 3 syndromes causing tall stature?

A

Marfan
Klinefelter
Sotos

131
Q

What causes Marfan and how is it inherited?

A

Autosomal dominant
Mutations in the FBN1 gene which codes for fibrillin 11
25% those affected have a new mutation

132
Q

What are the skeletal features of Marfan?

A 
Arachnodactyly
Tall stature
Scoliosis
High arched palate
Pectus excavatum/carinatum
Joint hypermobility
133
Q

What are the non-skeletal features of Marfan?

A 
Learning disability
Lens dislocation
Aortic dissection
Mitral valve prolapse
Pneumothorax
134
Q

What is the karyotype in Klinefelter

A

47XXY

135
Q

What are the clinical features of Klinefelter?

A 
Tall and slim
Cryptoorchidism
Gynaecomastia
Learning disability
Azoospermia and infertility
Immature behaviour
136
Q

How is Sotos syndrome inherited?

A

Inheritance is sporadic, caused by mutations in the NSD1 gene

137
Q

What are the clinical features of Sotos syndrome?

A

Birthweight and length >90th centile
Excessive linear growth during the first few years, which characteristically falls back
Head circumference proportional to length
Large hands and feet
Large ears and nose
Intellectual retardation
Clumsiness

138
Q

What are the three parts of the adrenal gland and what do they produce?

A

Zona glomerulosa: aldosterone
Zona fasciculata: cortisol/androstenedione
Zona reticularis: DHEAS

139
Q

What is a phaeochromocytoma?

A

Catecholamine secreting tumour

140
Q

Is a phaeochromocytoma malignant?

A

Not usually

141
Q

What is the main clinical feature of pheochromocytoma?

A

Sustained hypertension

142
Q

Which conditions is pheochromocytoma associated with?

A

Von Recklinghausen disease
Von Hippel-Landau
MEN syndromes

143
Q

What investigations should be done in phaeochromocytoma?

A

MIBG isotope scan

Plasma and urine catecholamine measurement

144
Q

What is the management for phaeochromocytoma?

A

○ Surgical excision

Need pre op alpha and beta adrenoceptor blockade to prevent acute hypertensive crisis or cardiac dysrhythmias

145
Q

What causes neonatal thyrotoxicosis?

A

Caused by transplacental passage of thyroid stimulating antibodies from mothers with Graves disease or Hashimoto thyroiditis

146
Q

What are the clinical features of neonatal thyrotoxicosis?

A 
○ Tachycardia
Dysrhythmia
Hypertension
Weight loss
Goitre
Jaundice
Thrombocytopenia
147
Q

How is neonatal thyrotoxicosis treated?

A

self limiting but requires treatment with propranolol, carbamazepine and Lugol’s iodine if severe

148
Q

How common is T1DM?

A

1:1000 children, 1.5:1 males:females

149
Q

Which HLA haplotypes is T1DM associated with?

A

DR3 and DR4

150
Q

What is the pathophysiology of T1DM?

A

T cell mediated: Islet tissue from patients with recent-onset T1DM shows insulitis, with an infiltrate made up of CD4 and CD8 T-lymphocytes and macrophages

151
Q

What are the diagnostic criteria for T1DM?

A

Fasting BSL>7
Post prandial 2hr BM >11.1
HbA1c >6.5%

152
Q

How is DKA defined

A

Glucose >11
pH <7.3
Bicarbonate <15

153
Q

How is DKA managed?

A

Fluid resuscitation: 10ml/kg 0.9% saline unless shocked, in which case 20ml/kg

After initial bolus, give 0.9% saline with potassium after calculating deficit

Confirm the diagnosis with bloods and further assessment

Add glucose to fluid later, once glucose is 14mmol/l or lower: 5% glucose, Change to 10% if glucose <6mmol/l

Don’t start insulin until intravenous fluids have been running for at least an hour, use sliding scale

MRCPCH Clinicals (17 decks)

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