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Passmed Flashcards

1
Q

What causes Klinefelter syndrome?

A

When a male has an additional X chromosome

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2
Q

What is the genotype in Klinefelter syndrome?

A

47 XXY

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3
Q

When does Klinefelter syndrome usually present?

A

At puberty

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4
Q

What features are commonly seen in Klinefelter syndrome?

A

Tall
Wide hips
Gynaecomastia
Weak muscle
Small testicles
Reduced libido
Shy
Infertile
Some learning difficulties

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5
Q

What is gynaecomastia?

A

Overdevelopment of breast tissue in boys or men

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6
Q

What is the management of Klinefelter syndrome?

A

Treat symptoms:
Testosterone injections
Advanced IVF
Breast reduction surgery
Physio/OT

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7
Q

What is the genotype in Turner syndome?

A

45,XO

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8
Q

What are the main features of Turner syndrome?

A

Short
Webbed neck
High arch palate
Broad with widely spaced nipples
Cubitis valgus
Underdeveloped ovaries
Infertility
Late/ incomplete puberty

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9
Q

What conditions is Turners associated with?

A

Otitis media
UTIs
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Learning disabilities

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10
Q

How it Turner syndrome managed?

A

Growth hormones
Oestrogen and Progesterone
Fertility treatment

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11
Q

What causes Down’s syndrome?

A

Three copies of chromosome 21

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12
Q

What are the key dysmorphic features of Down’s syndrome?

A

Hypotonia
Brachycephaly (small head)
Short neck and stature
Flattened face/ nose
Prominent epicanthic folds (eyelids)
Single palmar crease
Upward sloping palpebral fissues

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13
Q

What are the key complications of Down’s syndrome?

A

Learning disability
Recurrent otitis media
Deafness
Visual problems
Hypothyroidism
Cardiac defects

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14
Q

What cardiac defects are commonly seen in Down’s syndrome?

A

ASD
VSD
PDA
ToF

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15
Q

What is the first line test for Down’s syndrome

A

Combined test

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16
Q

When is the combined test performed?

A

11-14 weeks

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17
Q

What is involved in the combined test?

A

Ultrasound
Maternal blood tests

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18
Q

What combined test results would indicate Down’s syndrome?

A

Nuchal thickness ?6mm
High b-HCG
low PAPPA

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19
Q

When is the triple test performed?

A

14-20 weeks

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20
Q

What does the triple test look for?

A

Maternal blood tests:
b-HCG
AFP
Serum oestriol

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21
Q

If the screening tests provide a high risk for, what is then done to confirm Down’s syndrome?

A

Amniocentesis or chorionic villus sampling

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22
Q

What screening risk score would prompt further investigation?

A

> 1 in 150

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23
Q

When is chorionic villus sampling used?

A

Before 15 weeks gestation

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24
Q

What test can be done if women don’t want amniocentesis or CVS?

A

NIPT

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25
Q

What is the NIPT?

A

Non-invasive prenatal testing

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26
Q

What does NIPT involve?

A

Blood test from mother to look at fetal DNA

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27
Q

What routine investigations are important in children with Down’s syndrome?

A

Thyroid checks
Echocardiogram
Audiometry
Eye checks

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28
Q

What is the average life expectancy for someone with Down’s syndrome?

A

60

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29
Q

What causes Edwards syndrome?

A

Trisomy 18

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30
Q

What is the key feature of Edwards syndrome?

A

Small jaw
Low set ears
Overlapping fingers
Rocker bottom feet
Dysmorphic features
Learning disability

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31
Q

What causes Patau syndrome?

A

Trisomy 13

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32
Q

What key features are seen in Patau syndrome?

A

Polydactyly **
Cleft lip and palate
Microcephaly
Small eyes
Learning disability
Rocker bottom feet
Dysmorphic features

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33
Q

What causes fragile X syndrome?

A

Mutation in the fragile X mental retardation 1 (FMR1) gene on the X chromosome.

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34
Q

What does the FRM1 gene code for?

A

The fragile X mental retardation protein, which plays a role in cognitive development in the brain

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35
Q

Who is more affected by fragile X syndrome and why?

A

Men, because women have another X

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36
Q

What features are seen in fragile X syndrome?

A

Everything big
Long, narrow face
large ears
Large testicles
Hypermobility
ADHS
Autism
Delay in speech and language development
Intellectual disability

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37
Q

What causes Angelman syndrome?

A

Loss of function of the UBE3A gene inherited from the mother

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38
Q

What chromosome is affected in Angelman syndrome?

A

chromosome 25

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39
Q

What are the key features of Angelman syndrome?

A

Happy demeanour
Fascination with water
Learning disability
Developmental delay/ absence
Widely spaced teeth

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40
Q

What causes Prader-Willi syndrome?

A

Loss of functional genes on the proximal arm of chromosome 15 from the father

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41
Q

What are the key features of Prader-Willi syndrome?

A

Constant insatiable hunger
Hypotonia

42
Q

How is Prader-Willi managed?

A

Careful limiting of food with dietitian
Growth hormone
MDT

43
Q

What is the inheritance pattern of Noonan syndrome?

A

Autosomal dominant

44
Q

What are the key features of Noonan syndrome?

A

Webbed neck**
Pectorus excavatum
Short
Broad forehead
Hypertelorism (wide space between eyes)

45
Q

What conditions is Noonans associated with?

A

Congenital heart disease
Cryptorchidism
Learning disability
Bleeding disorders

46
Q

What causes William syndrome?

A

Deletion of genetic material on chromosome 7

47
Q

What are the key features of William syndrome?

A

Starburst eyes
Broad forehead
Very sociable
Wide mouth with big smile

48
Q

What conditions is William syndrome associated with?

A

Supravalvular aortic stenosis
ADHD
Hypercalcaemia
Hypertension

49
Q

Which genetic condition impairs sense of smell?

A

Kallman syndrome

50
Q

What are the key features seen in Kallman syndrome?

A

Anosmia
Delayed puberty

51
Q

What would blood results show in a patient with Klinefelters syndrome?

A

Hypergonadotropic hypogonadism:
Low testosterone
High LH and FSH

52
Q

What would blood results show in a patient with Kallman syndrome?

A

Hypogonadotropic hypogonadism:
Low LH and FSH

53
Q

What is androgen insensitivity syndrome?

A

Condition that causes end-organ resistance to testosterone

54
Q

What is the inheritance pattern in androgen insensitivity syndrome?

A

X-linked recessive

55
Q

What is the genotype and phenotype in people with androgen insensitivity syndrome?

A

Genotypically male (46,XY) with a female phenotype

56
Q

What are the key features of androgen insensitivity syndrome?

A

Primary amenorrhoea
Little/ no axillary or pubic hair
Undescended testes causing groin swelling
(breast development may occur)

57
Q

What is there a deficiency in in congenital adrenal hyperplasia?

A

21-hydroxylase enzyme

58
Q

What does deficiency of 21-hydroxylase enzyme lead to in congenital adrenal hyperplasia?

A

Underproduction of cortisol and aldosterone and overproduction of androgens from birth

59
Q

What is the inheritance pattern of congenital adrenal hyperplasia?

A

Autosomal recessive

60
Q

What is the role of 21-hydroxylase?

A

Converts progesterone into aldosterone and cortisol

61
Q

Why is excess testosterone in congenital adrenal hyperplasia?

A

Because the progesterone cannot be converted to aldosterone or cortisol, so gets converted to testosterone instead

62
Q

How does severe congenital adrenal hyperplasia present in female patients?

A

Ambiguous genitalia and enlarged clitoris

63
Q

How does very severe congenital adrenal hyperplasia present shortly after birth?

A

Hyponatraemia
Hyperkalamiea
Hypoglycaemia

64
Q

How does mild congenital adrenal hyperplasia present in females?

A

Tall
Facial hair
Absent periods
Deep voice
Early puberty

65
Q

How does mild congenital adrenal hyperplasia present in males?

A

Tall
Deep voice
Large penis
Small testicles
Early puberty

66
Q

How is congenital adrenal hyperplasia managed?

A

Cortisol replacement
Aldosterone replacement

67
Q

What are the main causes of primary amenorrhoea?

A

Gonadal dysgenesis (Turner’s syndrome)
Testicular feminisation (Androgen insensitivity syndrome)
Congenital malformations
Hypothalamic amenorrhoea (anorexia)
Congenital adrenal hyperplasia
Imperforate hymen

68
Q

At what newborn stage is jaundice always pathological?

A

The first 24 hours

69
Q

What are the causes of jaundice in the first 24 hours?

A

Rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase

70
Q

Do rhesus negative or rhesus positive women need additional treatment during pregnancy?

A

Rhesus negative

71
Q

Why do rhesus negative women need additional treatment in pregnancy?

A

If the child is rhesus positive, then the blood may mix and the woman will produce antibodies to the rhesus D-antigen.

72
Q

At what point does rhesus incompatibility become and issue and why?

A

When the woman has another child, the anti-rhesus D antibodies can cross the placenta and cause haemolysis of the fetus’s red blood cells

73
Q

What is haemolytic disease of the newborn

A

When a rhesus -ve mother’s rhesus antibodies attack the RBCs of the futus

74
Q

What is the management of rhesus disease?

A

IM anti-D injections to rhesus- D negative women.

75
Q

What do anti-D injections do to prevent rhesus disease?

A

Attaches to rhesus-D antigens on fetal RBCs in the mothers circulation, causing them to be destroyed and therefor preventing her from making antibodies against it.

76
Q

When are Anti-D injections routinely given?

A

28 weeks gestation
Birth (if the baby is rhesus +ve)

77
Q

What is the Kleinhauer test?

A

Test performed to see how much fetal blood has passed to the mothers blood, and therefore if more doses of anti-D are required.

78
Q

What is the most common cause of jaundice in 2-14 day old neonates?

A

Physiological (more common in breastfed babies)

79
Q

After how many days is jaundice ‘prolonged’?

A

After 14 days

80
Q

What is done to investigate prolonged jaundice?

A

Prolonged jaundice screen:
Biliburin
Coomb’s test
TFTs
FBC
Urine
U&Es
LFTs

81
Q

What are the causes of prolonged jaundice?

A

Biliary atresia
Hypothyroidism
Galactosaemia
UTI
Breast milk jaundice
Prematurity
Congenital infections

82
Q

What are the key speech and language developmental milestones?

A

9 months- mama and dada
2 years- 2 words together
3 years- what and who questions
4 years- why, when, how questions

83
Q

What are the key fine motor/ vision milestones?

A

6mo- palmar grasp
9mo- points
12mo- good pincer grip

84
Q

What are the key gross motor milestones?

A

3mo- hold up head
7-8mo- sits without support
9mo-crawls
13-15mo- walks unsupported
2- runs
4- hops

85
Q

At what age would you refer a child if they cannot sit without support?

A

12 months

86
Q

At what age would you refer a child if that can’t walk unsupported

A

18 months

87
Q

What are the key social behaviour milestones?

A

6 weeks- smile
6mo- not shy
9mo- shy

88
Q

What is ketogenesis?

A

When there is insufficient supply of glucose, so the liver converts fatty acids into ketones to be used as fuel

89
Q

What are the classic triad of symptoms of hyperglycaemia?

A

Polyuria
Polydipsia
Weight loss

90
Q

How does the body try to prevent ketoacidosis?

A

Kidneys produce bicarbonate to buffer the ketone acids

91
Q

What is ketoacidosis?

A

Where the ketone and glucose levels in the blood get higher and higher, causing the blood to become acidic

92
Q

Why do you get dehydrated in DKA?

A

Hyperglycaemia overwhelms the kidneys and glucose starts being filtered out into the urine. which draws water out too

93
Q

Why do you get potassium imbalance in T1 diabetes?

A

Insulin usually drives potassium into cells

94
Q

What must be given with insulin when correcting DKA and why?

A

Potassium, as there will be very low levels so once it starts going into the cells can cause arrhythmia

95
Q

What are the most dangerous aspects of DKA that can kill the patient?

A

Dehydration, Potassium imbalance, acidosis

96
Q

How will DKA present?

A

Polyuria
Polydipsia
N&V
Weight loss
Acetone breath
Dehydration
Altered conscioussness

97
Q

How is DKA managed?

A

Correct dehydration over 48 hours
Fixed rate insulin infusion with potassium

98
Q

Why is dehydration corrected over 48 hours in DKA?

A

To reduce the risk of cerebral oedema

99
Q

What is the usual insulin regime for T1 diabetes?

A

Basal bolus (long acting + short acting)

100
Q
A

Paeds (18 decks)

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