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Endocrinology Flashcards

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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
What are the biochemical consequences of CAH
Lack of cortisol and aldosterone | Increased adrenocortical stimulation by CRH and ACTH, which induces adrenal gland hyperplasia
26
How is CAH inherited?
Autosomal recessive
27
How does CAH usually present
Salt losing crisis: hyponatraemia, hyperkalaemia, hypoglycaemia, acidosis and shock BG of vomiting, weight loss, FTT Usually at 1-4 weeks
28
What are the non salt losing crisis features of CAH in females?
``` Clitoromegaly Early development of pubic hair Hirsutism Acne Increased growth rate Advanced bone age Gynaecological problems e.g. oligomenorrhoea, abnormal menses or infertility ```
29
What are the non-crisis features of CAH in boys?
early penile growth, pubic hair, increased growth rate, increased musculature
30
How is CAH diagnosed?
17-OHP levels ACTH stimulation test Urine steroid profile
31
How is the acute salt losing crisis in CAH managed
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
32
How is CAH managed?
Glucocorticoids and mineralocorticoids, extra steroids in periods of stress
33
What are the causes of congenital hypothyroidism
Most common: maldescent of thyroid and athyrosis Dyshormonogenesis Iodine deficiency TSH deficiency
34
How does congenital hypothyroidism present?
``` 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 ```
35
What's the difference between Cushing syndrome and Cushing disease?
○ Syndrome = cortisol excess | Disease = due to a pituitary ACTH producing tumour (adenoma)
36
What are the clinical features of Cushing syndrome?
``` Central obesity Buffalo hump Purple striae Hypertension Osteoporosis Hypogonadism Growth failure Muscle wasting/hypotonia ```
37
What investigations should be done for Cushing syndrome
24h urine cortisol Dexamethasone suppression test MRI of brain CT of adrenals
38
How much do you adjust a parent's height for to calculate mid parental height?
13cm
39
What are the three main groups of causes of delayed puberty?
Constitutional delay Gonadotrophin deficiency Primary gonadal failure
40
What are the causes of gonadotrophin deficiency?
Severe and chronic undernutrition Chronic illness Endocrine conditions e.g. hypothyroidism In boys particularly: Isolated gonadotrophin deficiency, Kallman syndrome
41
What are the causes of primary gonadal failure in boys?
Klinefelter Cryptorchidism Previous testicular torsion Post radiation
42
What are the causes of primary gonadal failure in girls?
Turner's Autoimmune damage to ovaries Total body irradiation or chemo
43
How is galactosaemia inherited?
Recessive
44
What is the cause of galactosaemia?
deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is needed for galactose metabolism
45
How does galactosaemia present?
When lactose-containing milk feeds are introduced, they cause poor feeding, vomiting, jaundice and hepatomegaly and hepatic failure
46
What are the consequences of untreated galactosaemia?
Chronic liver disease Cataracts Developmental delay
47
How is galactosaemia managed?
Lactose and galactose free diet for life
48
How are glycogen storage disorders inherited?
Recessive
49
What are the causes of glycogen storage disorders
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
50
Which organs are most affected by glycogen storage disorders?
Muscle Cardiac muscle Liver
51
How are glycogen storage disorders managed?
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
52
What are the 5 broad groups of disorders of sexual development?
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
53
What is the most common disorder of sexual development?
CAH female
54
Where does a craniopharyngioma come from?
Arises from the craniopharyngeal cleft, which develops from the fusion of Rathke's pouch and the infundibulum
55
What are the usual histological features of a craniopharyngioma?
``` Calcified Cystic Slow growing Squamous epithelial Extra axial ```
56
How big is a craniopharyngioma before symptoms appear?
3cm
57
When do craniopharyngiomas usually present?
5-14 years
58
What are the symptoms of craniopharyngioma?
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
59
How are craniopharyngiomas managed
Surgery Radiation Chemo Hormone replacement
60
How is CHARGE syndrome inherited?
AD
61
What makes up CHARGE syndrome?
○ 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
62
Which gene is responsible for CHARGE syndrome?
2/3 have mutation of CHD7
63
What is the most common mutation in combined pituitary hormone deficiency?
PROP1
64
How is septo-optic dysplasia defined?
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
What are the clinical features of septo-optic dysplasia?
Neurological abnormalities Wandering nystagmus Endocrine deficiencies
66
How are the endocrine deficiencies in septo-optic dysplasia managed?
Hydrocortisone replaced before others to avoid precipitating an adrenal crisis
67
What is the defect in holoprosencephaly?
failure of the prosencephalon to divide adequately into 2 halves, which usually happens at 3-4 weeks' gestation
68
What are the three subtypes of holoprosencephaly?
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
What are the clinical features of holoprosencephaly
``` Hypotonia Hypothalamic dysfunction Microcephaly Pituitary deficiency including diabetes insipidus Epilepsy Feeding difficulties Spina bifida Sleep disturbance Developmental delay ```
70
What's the prognosis in holoprosencephaly?
• Half of children with semilobar or lobar forms live beyond 12 months
71
How is type 1 MEN/ Werner syndrome inherited?
AD
72
What are the associations with Werner syndrome?
○ Pancreatic: gastrinoma, insulinoma Pituitary Parathyroid
73
What causes Werner syndrome?
mutations in MEN1 gene which codes for menin, a tumour suppressor
74
What are the associations with type 2 MEN (Sipple syndrome)
Medullary thyroid cancer Parathyroid Phaeochromocytoma
75
What causes Sipple syndrome?
Mutations in RET gene
76
What are the phenotypic features of MEN2b?
Marfanoid habitus Skeletal abnormalities Abnormal dental enamel Multiple mucosal neuromas
77
What does PTH do normally?
Promotes bone formation via osteoblasts
78
What does PTH do when calcium is low?
Promotes bone resorption via osteoclasts Increases renal uptake of calcium Activates metabolism of vitamin D
79
What does vitamin D do to raise calcium?
Promotes gut absorption of calcium Increases osteoclastic bone resorption Inhibits PTH secretion and hence increases 1 alpha hydroxylation
80
What are the biochemical features in hypoparathyroidism?
Low serum calcium Raised serum phosphate Normal ALP PTH is very low
81
What are the clinical features of severe hypocalcaemia?
Muscle spasm fits Stridor Diarrhoea
82
What are the causes of hypoparathyroidism?
In infants, usually due to a congenital deficiency e.g. DiGeorge syndrome In older children, usually autoimmune and associated with Addison disease
83
What is the defect in pseudohypoparathyroidism
End organ resistance to PTH caused by a mutation in a signalling molecule
84
What are the biochemical features of pseudohypoparathyroidism?
Serum calcium and phosphate are low, but PTH levels are normal or high
85
What are the clinical features of pseudohypoparathyroidism
``` Short stature Obesity Subcutaneous nodules Short fourth metacarpals Learning difficulties Teeth enamel hypoplasia Calcification of the basal ganglia ```
86
What are the features of pseudopseudohypoparathyroidism?
Physical characteristics of pseudohypoparathyroidism but serum calcium, phosphate and PTH are all normal
87
How is hypoparathyroidism treated?
Calcium and vit D
88
What are the features of hyperparathyroidism?
``` Causes high calcium, which in turn causes: Constipation Anorexia Lethargy Behavioural disturbance Polyuria Polydipsia Bony erosions of phalanges can be seen on XR ```
89
What are the causes of hyperparathyroidism?
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
How is severe hypercalcaemia treated?
Rehydration, diuretics and bisphosphonates
91
What are the features of hypercalcaemia?
``` Anorexia Constipation Polyuria Nausea Vomiting Failure to thrive ```
92
What are the causes of hypercalcaemia
``` Low PTH: Vitamin D intoxication Infantile hypercalcaemia Transient Williams syndrome Associated with tumours ``` High PTH: Primary hyperparathyroidism Familial hypocalciuric hypercalcaemia
93
What are the causes of rickets?
Hypocalcaemia Phosphopenia Abnormal bones Renal osteodystrophy
94
How is precocious puberty defined?
<8 years in girls | <9 years in boys
95
What is true precocious puberty?
when the hypothalamic control mechanism for puberty (the GnRH pulse generator) is prematurely turned on, leading to early gonadal maturation
96
What is pseudoprecocious puberty?
Gonadotrophin independent precocious puberty
97
In which gender is true precocious puberty more common?
Girls
98
What is the cause of achondroplasia?
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
How is achondroplasia inherited?
AD, but new mutations in 80%
100
What are the features of achondroplasia
``` Megalocephaly Short limbs Prominent forehead Thoracolumbar kyphosis Midfacial hypoplasia Disproportionate short stature Diminishing interpeduncular distances between L1 and L5 ```
101
What are the complications of achondroplasia?
Short stature Dental malocclusion Hydrocephalus Repeated otitis media
102
What is hypochondroplasia?
Rhizomelic short stature, distinct from achondroplasia
103
What is the cause of hypochondroplasia?
70% affected have mutations in FGFR3
104
What are the clinical features of hypochondroplasia?
Stocky or muscular appearance Usually recognised at age 2-3 Wide variability in severity No change in interpeduncular distances between L1 and L5
105
How are the mucopolysaccharidoses inherited?
AR or X linked recessive
106
What is the cause of the mucopolysaccharidoses?
Result from enzyme deficiences that break down the complex carbohydrates called glycosaminoglycans
107
What are the clinical features of mucopolysaccharidoses
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
How is Russell-Silver syndrome inherited?
Sporadic, may relate to chr7 or 11, or parental specific expression
109
What is the main feature of Russell-Silver syndrome?
Prenatal onset short stature
110
What are the clinical features of Russell-Silver syndrome?
``` Limb asymmetry Short incurved 5th finger Small triangular face Café au lait spots Normal intelligence Bluish sclerae in early infancy ```
111
What is Turner syndrome?
45XO (or XO/XX or XO/XY) karyotype associated with short stature, ovarian dysgenesis and dysmorphic features
112
How is Turner syndrome inherited?
Sporadically
113
What are the features of Turner syndrome?
``` Neonatal lymphedema of hands and feet Skeletal anomalies Facial anomalies Specific space-form perception defect Endocrine defects ```
114
What are the skeletal anomalies associated with Turner syndrome?
``` Short stature Widely spaced nipples Shield-shaped chest Wide carrying angle Short 4th metacarpal Hyperconvex nails ```
115
What are the facial features of Turner syndrome?
``` Prominent, backward rotated ears Squint Ptosis High arched palate Low posterior hairline Webbed neck ```
116
What are the endocrine defects seen in Turner syndrome?
Autoimmune diseases T2DM Infertility and pubertal failure
117
What are the associated conditions with Turner syndrome?
Horseshoe kidneys Coarctation of the aorta Excessive pigmented nave
118
What causes short stature with delayed bone age?
Constitutional delay
119
What causes short stature with advanced bone age?
Precocious puberty Androgen excess e.g. CAH GH excess
120
What causes Prader Willi?
Deletion from paternally derived long arm of chromosome 15q
121
What are the clinical features of Prader willi?
``` 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
What are the facial features of Prader Willi?
``` § Narrow forehead Olive-shaped eyes Anti-mongoloid slant Carp mouth Abnormal ear lobes ```
123
What are the orthopaedic features of Prader Willi?
Small, tapering fingers Congenital dislocation of the hips Retarded bone age
124
What is the cause of Bardet-Biedl?
At least 14 different gene mutations | Often referred to as BBS genes - involved in structure and function of cilia
125
What are the clinical features of Bardet-Biedl?
``` Learning disability Obesity - marked by 4 years of age Retinitis pigmentosa/strabismus Polydactyly/clinodactyly Moderate short stature Hypogonadism ```
126
What problems are associated with Bardet-Biedl?
Renal anomalies | Diabetes insipidus
127
What is the cause of Beckwith-Wiedemann syndrome?
Usually occurs with abnormal regulation of genes on chromosome 11 Up to 20% of case are due to paternal uniparental disomy
128
What are the clinical features of Beckwith-Wiedemann?
``` Large birthweight Transient hyperinsulinism Macrosomia Linear fissures on ear lobes Umbilical hernia/exomphalos Hemihypertrophy ```
129
What problem is Beckwith-Wiedemann associated with?
Wilms tumour
130
What are 3 syndromes causing tall stature?
Marfan Klinefelter Sotos
131
What causes Marfan and how is it inherited?
Autosomal dominant Mutations in the FBN1 gene which codes for fibrillin 11 25% those affected have a new mutation
132
What are the skeletal features of Marfan?
``` Arachnodactyly Tall stature Scoliosis High arched palate Pectus excavatum/carinatum Joint hypermobility ```
133
What are the non-skeletal features of Marfan?
``` Learning disability Lens dislocation Aortic dissection Mitral valve prolapse Pneumothorax ```
134
What is the karyotype in Klinefelter
47XXY
135
What are the clinical features of Klinefelter?
``` Tall and slim Cryptoorchidism Gynaecomastia Learning disability Azoospermia and infertility Immature behaviour ```
136
How is Sotos syndrome inherited?
Inheritance is sporadic, caused by mutations in the NSD1 gene
137
What are the clinical features of Sotos syndrome?
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
What are the three parts of the adrenal gland and what do they produce?
Zona glomerulosa: aldosterone Zona fasciculata: cortisol/androstenedione Zona reticularis: DHEAS
139
What is a phaeochromocytoma?
Catecholamine secreting tumour
140
Is a phaeochromocytoma malignant?
Not usually
141
What is the main clinical feature of pheochromocytoma?
Sustained hypertension
142
Which conditions is pheochromocytoma associated with?
Von Recklinghausen disease Von Hippel-Landau MEN syndromes
143
What investigations should be done in phaeochromocytoma?
MIBG isotope scan | Plasma and urine catecholamine measurement
144
What is the management for phaeochromocytoma?
○ Surgical excision | Need pre op alpha and beta adrenoceptor blockade to prevent acute hypertensive crisis or cardiac dysrhythmias
145
What causes neonatal thyrotoxicosis?
Caused by transplacental passage of thyroid stimulating antibodies from mothers with Graves disease or Hashimoto thyroiditis
146
What are the clinical features of neonatal thyrotoxicosis?
``` ○ Tachycardia Dysrhythmia Hypertension Weight loss Goitre Jaundice Thrombocytopenia ```
147
How is neonatal thyrotoxicosis treated?
self limiting but requires treatment with propranolol, carbamazepine and Lugol's iodine if severe
148
How common is T1DM?
1:1000 children, 1.5:1 males:females
149
Which HLA haplotypes is T1DM associated with?
DR3 and DR4
150
What is the pathophysiology of T1DM?
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
What are the diagnostic criteria for T1DM?
Fasting BSL>7 Post prandial 2hr BM >11.1 HbA1c >6.5%
152
How is DKA defined
Glucose >11 pH <7.3 Bicarbonate <15
153
How is DKA managed?
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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