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Endo and puberty Flashcards

1
Q

What is factitious hypoglycaemia

A

Deliberate attempt to induce hypoglycaemia

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2
Q

Differentiating factitious hypoglycaemia from insulinoma

A

High levels of peptide C in insulinoma
Peptide C is normally cleaved

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3
Q

Genetic error in turners syndrome

A

Most common=45chr single X whole body
Mosaicism where one cell line has 45 X
Part of X chromosome missing
No risk in future child

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4
Q

What are ovaries like in turners syndrome

A

Ovaries are replaced by streak ovaries that can not produce oestrogen

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5
Q

Presentation of turners

A

Delayed puberty
Short stature
Cardiac issues
Horseshoe kidneys-> recurrent UTIs
Lymphoedema such as web necking

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6
Q

Risks of turners

A

Preductal aortic coarctation
Bicuspid aorta- most common cardiac abnormality
Horseshoe kidney
Increased risk of T2DM and hypothyroidism
Lymphatic issues

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7
Q

Which syndrome is associated with cystic hygroma

A

Turners

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8
Q

How do turners patients appear

A

Short
Webbed neck
Wide nipples
Low set ears
Outfacing arms
High arched palate
Pigmented naevi
Short 4th metacarpal

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9
Q

How can turners be picked up antenatally

A

Cystic hygroma, horseshoe and cardiac anomalies on antenatal scans
Chorionic villous sampling to do karyotyping

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10
Q

Treatment for turners

A

GH for growth and bone growth
Oestrogen replacement for breast and uterine development
IVF makes pregnancy possible

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11
Q

Short
Webbed neck
Wide nipples
Low set ears
Outfacing arms
High arched palate
Pigmented naevi
Short 4th metacarpal
Lymphoedema

A

Turners

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12
Q

Neonatal features of Downs

A

Upslanting palpebral features
Smal low set ears
Round flat face
Flat occiput
Hypotonia
Brushfield spots in iris
Single palmar crease
Duodenal atresia
Hirschprung disease

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13
Q

Complications of downs syndrome

A

Infertility
Learning difficulties
Repeated resp infections
ALL
Alzheimers
Hypothyroidism
Atlantoaxial instability

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14
Q

Fertility of males and females in downs syndrome

A

Males are infertile
Females are subfertile and have increased problems with pregnancy and labour

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15
Q

Genetic abnormality of edwards syndrome

A

Trisomy 18

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16
Q

Syndrome with omphalocele

A

Edwards

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17
Q

Gastro complications of edwards

A

Omphalocele
Eosophageal atresia
Hepatoblastoma

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18
Q

Cardiac complications of edwards

A

Septal defects
PDA

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19
Q

Renal complications of edwards

A

Horseshoe kidney
Wilms tumour risk

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20
Q

Resp complications of edwards

A

Pulmonary hypoplasia
Frequent infections

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21
Q

Cancer risks of edwards

A

Wilms tumour
Hepatoblastoma

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22
Q

Presentation of edwards syndrome

A

Failure to thrive and development issues

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23
Q

Risk factors for edwards syndrome

A

Maternal age
Female

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24
Q

Examination of edwards findings

A

Prominent occiput
Cleft lip and palate
Low set ears
Rockerbottom feet
Overlapping fingers
Microcephaly
Micrognathia (small jaw)

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25
Q

Why is fragile X called fragile X

A

Under microscope the X looks very fragile as the X is so condensed

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26
Q

Genetic mutation in fragile X

A

Mutation in FMR1
Trinucleotide repeat
Much worse in males as have only 1 FMR1

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27
Q

Presentation of fragile X

A

Intellectual disability
Delayed speech
Delayed motor development
Autism
ADHD
Seizure disorders
Premature ovarian failure

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28
Q

Examination features of fragile X

A

Long narrow face
Prominent jaw
Large ears
Large testes post puberty
Macrocephaly

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29
Q

Triad for pierre-robin sequence

A

Micrognathia
Posterior displacement of tongue which can cause airway obstruction (glossoptosis)
Cleft palate

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30
Q

Genetic abnormality of patau syndrome

A

Trisomy 13

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31
Q

Presentation of patau syndrome

A

Severe delay in development
Intellectual disability
Myelomingocele-> associated problems

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32
Q

GI, renal and cardio problems of pataus

A

GI-omphalocele
Renal- PCKD
Cardio- VSD, PDA, dextrocardia

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33
Q

Examination of patau

A

Scalp lesions from failure of skin to develop
Micropthalmia
One eye in middle of face
No nose
Polydactyly
Rockerbottom feet

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34
Q

Genetic abnormality in noonans

A

Mutated RAS/activated protein kinase

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35
Q

Examination findings of noonans

A

Webbed neck
Trident hairline
Pectus excavatum
Short

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36
Q

Cardiac abnormality in noonans

A

Pulmonary stenosis

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37
Q

Difference between prader-willi and angelman syndrome

A

Both have deletion of 15q (long arm)
Paternal deletion= prader willi
Maternal deletion= angelman
Get myoclonic seizures in angelmans

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38
Q

Presentation of prader-willi and angelmans

A

Hypotonia
Hyperphagia
Almond shaped eyes
Hypogonadism
Epicanthal folds
Flat nasal bridge and upturned nose
Learning disability

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39
Q

Genetic abnormality of klinefelters

A

47 XXY

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40
Q

Features of klinefelters

A

Infertility
Hypogonadism
Gynaecomastia
Tall

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41
Q

Main complication of fragile X

A

Mitral valve prolapse

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42
Q

What is the genetic jinheritance mode of prader willi

A

Imprinting

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43
Q

Causes of tall stature

A

Familial
Obesity
Endocrine- CAH, precocious puberty, acromegaly
Genetic- klinefelters, marfans

44
Q

Impact of obesity in childhood on height

A

Makes you taller during childhood as fuels growth however does not increase final height

45
Q

Causes of obesity in a child

A

Tall( typically above 50th centile)
- simple obesity
Short
Prader willi
- endocrine; hypothyroidism, cushings, PCOS

46
Q

Learning disabilites and obesity

A

Prader willi

47
Q

Defining obesity in children

A

If under 12 use weight centiles
- overweight above 91st centile
- obese above 98th centile
- severe above 99.6 centile
If over 12 use BMI
- overweight above 25
- obese above 30

48
Q

Management of obesity in children

A

First line always conservative
Medical - orlistat in certain criteria
Surgical very specialised choice

49
Q

When can use orlistat

A

BMI over 40
OR
BMI over 35 and comorbity present like orthopaedic or sleep apnoea
Has been treated with lifestyle for substantial time to no avail

50
Q

Complications of obesity in children

A

Sleep apnoea- poor school performance
Orthopaedic- SUFE
PCOS
DM
High chol
Psych- bullying

51
Q

What defines DKA

A

Acidosis- pH below 7.3 or bicarb below 15
Ketonamemia- blood beta hydroxybutyrate above 3 mmol/litre

52
Q

What are categories of DKA

A

Mild- pH 7.2-7.29
Moderate- pH 7.1-7.19 or bicarb less than 10
Severe- pH under 7.1 or bicarb less than 5

53
Q

What ketone is measured in DKA

A

beta-hydroxybutyrate

54
Q

How to treat cerebral oedema from DKA

A

Mannitol or hypertonic saline

55
Q

How is size of testicles assessed

A

Testicular volume- Orchidometer

56
Q

Which staging system is used to track puberty

A

Tanner

57
Q

Difference between when growth spurt occurs in males and females

A

Males- 18 months after start of puberty
Females- shortly after start of puberty

58
Q

First sign of puberty in males

A

Increase in testicular volume size

59
Q

When does menarche occur after onset of puberty

A

About 2.5 years

60
Q

Most common cause of precocious puberty in girls

A

Idiopathic

61
Q

How is precocious puberty classified

A

Gonadotrophin independant or dependant

62
Q

Gonadotrophin dependant causes of precocious puberty

A

Idiopathic/familial
CNS abnormalities
- hydrocephalus
- infection
- post irradiation
- surgery
- tumours
Hypothyroidism

63
Q

Gonadotrophin independent causes of precocious puberty

A

Adrenal
- tumours
- congenital hyperplasia
McUne Albright Syndrome
Tumours producing sex hormones
Exogenous tumours

64
Q

What does isolated pubic hair growth or virilisation of the genitalia suggest about cause of precocious puberty

A

Tumour producing sex hormones

65
Q

What is tumour causing precocious puberty in girls

A

Granulosa

66
Q

What is tumour causing precocious puberty in boys

A

Leydig

67
Q

How does premature puberty affect height

A

It may cause halt in growth as causes premature epiphyses of joints

68
Q

When should late puberty be investigated in a boy

A

Past 14- expect it 9-14

69
Q

What can present with premature thelarche between 6- 24 months

A

Premature thelarche provided no accompaniement of growth spurt or pubic hair development

70
Q

How is precocious puberty investigated in girls

A

Bedside
- height and weight
- examination- neuro and genital
Bloods
- hormone profile
Imaging
- USS of pelvic organs
- X-ray of wrists

71
Q

What looking for in pelvic USS of precocious puberty

A

Enlarged uterus
Polycystic ovaries

72
Q

How is gonadotrophin dependant precocious puberty treated

A

Treat cause
Gonadotrophin agonists with GH as GNRH stunts bone growth

73
Q

Causes of delayed puberty

A

Constitutional delay
Low gonadotrophin
- systemic disease/exercise/stress causing function hypogonadotrophins
- panhypoituitarism
- intracranial pathology
- hypothyroidism
- kallmann
High gonadotrophin
- klinefelters
- turner
- acquired gonadal failure

74
Q

Klinefelters genetic problem

A

47XXY

75
Q

Presentation of klinefelters

A

Tall
Small testicles
Learning difficulties
Poor muscular development

76
Q

What testicular volume describes onset of puberty

A

4ml

77
Q

How does panhypopituitarism tend to present as cause of delayed puberty

A

Hypoglycaemia- as other causes of thyroid deficiencies present before

78
Q

Management of congenital adrenal hyperplasia

A

IV hydrocortisone
IV dextrose

79
Q

Investigation for CAH in children

A

17 hydroxyprogesterone
In neonate have to do USS as 170Hprogesterone confounded for by mother

80
Q

How is DM identified

A

Symptoms and 1 fasting or random glucose
Asymptomatic and 2 fasting or random glucose
Asymptomatic and 1 poor OGTT

81
Q

Management of constitutional delay of puberty

A

1st line- reassure and observe
2nd- IM testosterone every 6 weeks for 6 months if male
transdermal oestrogen

82
Q

Management of primary gonadal failure causing delayed puberty

A

Boys- testosterone injection
Girls- oestrogen replacement

83
Q

Why is testosterone and oestrogen replacement done slowly in primary gonadal failure

A

To prevent premature fusion of the epiphyses

84
Q

How is whether puberty has started assessed in girls

A

Tanners grading scale for breast development

85
Q

How is gonadotrophin independant precocious puberty treated

A

Ketoconazole

86
Q

How treat precocious puberty from CAH

A

Hydrocortisone
GNRH agonist

87
Q

How to differentiate between gonadotrophin independent vs dependent precocious puberty

A

GNRH stimulating test
If high then dependant
If suppressed then independant

88
Q

What causes a marked delay in bone age

A

GH deficiency
Hypothyroidism

89
Q

How can congenital adrenal hyperplasia present

A

Salt losing crisis
Ambiguous genitalia
Undescended testicles
Hypoglycaemia

90
Q

What is unilateral gynaecomastia in puberty

A

Normal part of process

91
Q

How do downs syndrome childrens height progress

A

Slower than normal development
Given special growth charts instead of normal red book

92
Q

When is FISH vs karyotyping indicated

A

FISH is for microdeletions such as cri cri and DiGeorge

93
Q

How can the guthrie blood spot miss some causes of congenital hypothyroidism

A

If cause is due to panhypopituitarism as the guthrie spot tests for high TSH and would be low in congenital

94
Q

When is propanolol given in hyperthyroidism

A

To control symptoms affecting daily life

95
Q

Features of marfans

A

Tall
High arched palate
Chest wall deformity
Lens dislocation
Arm span > height
Joint hypermobility

96
Q

Cardiac issues with marfans

A

Mitral valve prolapse
Aortic arch abnormalities

97
Q

What is sight defect seen in marfans

A

Myopia- short sightedness

98
Q

What at risk of when have an infection in addisons

A

Addisonian crisis

99
Q

Recurrent AOM in a short female

A

Turners

100
Q

What are spoon shaped nails seen in

A

Turners due to lymphoedema

101
Q

Management of suspected T1DM in GP

A

Same day referral to be seen by paediatrics team

102
Q

Inheritance of fragile X

A

X linked autosomal dominant

103
Q

What is shield shaped chest and low hair line seen in

A

Turners

104
Q

What is micrognathia

A

Small lower jaw

105
Q

What is problem of pierre robin sequence

A

Difficulty feeding and breathing

106
Q

How is Pierre robin sequence managed

A

Attempts to help feed with specialised equipment before surgery is indicated

107
Q

MOst common genetic cause of trisomy 21

A

Meiotic non-dysjunction

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