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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
Why is fragile X called fragile X
Under microscope the X looks very fragile as the X is so condensed
26
Genetic mutation in fragile X
Mutation in FMR1 Trinucleotide repeat Much worse in males as have only 1 FMR1
27
Presentation of fragile X
Intellectual disability Delayed speech Delayed motor development Autism ADHD Seizure disorders Premature ovarian failure
28
Examination features of fragile X
Long narrow face Prominent jaw Large ears Large testes post puberty Macrocephaly
29
Triad for pierre-robin sequence
Micrognathia Posterior displacement of tongue which can cause airway obstruction (glossoptosis) Cleft palate
30
Genetic abnormality of patau syndrome
Trisomy 13
31
Presentation of patau syndrome
Severe delay in development Intellectual disability Myelomingocele-> associated problems
32
GI, renal and cardio problems of pataus
GI-omphalocele Renal- PCKD Cardio- VSD, PDA, dextrocardia
33
Examination of patau
Scalp lesions from failure of skin to develop Micropthalmia One eye in middle of face No nose Polydactyly Rockerbottom feet
34
Genetic abnormality in noonans
Mutated RAS/activated protein kinase
35
Examination findings of noonans
Webbed neck Trident hairline Pectus excavatum Short
36
Cardiac abnormality in noonans
Pulmonary stenosis
37
Difference between prader-willi and angelman syndrome
Both have deletion of 15q (long arm) Paternal deletion= prader willi Maternal deletion= angelman Get myoclonic seizures in angelmans
38
Presentation of prader-willi and angelmans
Hypotonia Hyperphagia Almond shaped eyes Hypogonadism Epicanthal folds Flat nasal bridge and upturned nose Learning disability
39
Genetic abnormality of klinefelters
47 XXY
40
Features of klinefelters
Infertility Hypogonadism Gynaecomastia Tall
41
Main complication of fragile X
Mitral valve prolapse
42
What is the genetic jinheritance mode of prader willi
Imprinting
43
Causes of tall stature
Familial Obesity Endocrine- CAH, precocious puberty, acromegaly Genetic- klinefelters, marfans
44
Impact of obesity in childhood on height
Makes you taller during childhood as fuels growth however does not increase final height
45
Causes of obesity in a child
Tall( typically above 50th centile) - simple obesity Short Prader willi - endocrine; hypothyroidism, cushings, PCOS
46
Learning disabilites and obesity
Prader willi
47
Defining obesity in children
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
Management of obesity in children
First line always conservative Medical - orlistat in certain criteria Surgical very specialised choice
49
When can use orlistat
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
Complications of obesity in children
Sleep apnoea- poor school performance Orthopaedic- SUFE PCOS DM High chol Psych- bullying
51
What defines DKA
Acidosis- pH below 7.3 or bicarb below 15 Ketonamemia- blood beta hydroxybutyrate above 3 mmol/litre
52
What are categories of DKA
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
What ketone is measured in DKA
beta-hydroxybutyrate
54
How to treat cerebral oedema from DKA
Mannitol or hypertonic saline
55
How is size of testicles assessed
Testicular volume- Orchidometer
56
Which staging system is used to track puberty
Tanner
57
Difference between when growth spurt occurs in males and females
Males- 18 months after start of puberty Females- shortly after start of puberty
58
First sign of puberty in males
Increase in testicular volume size
59
When does menarche occur after onset of puberty
About 2.5 years
60
Most common cause of precocious puberty in girls
Idiopathic
61
How is precocious puberty classified
Gonadotrophin independant or dependant
62
Gonadotrophin dependant causes of precocious puberty
Idiopathic/familial CNS abnormalities - hydrocephalus - infection - post irradiation - surgery - tumours Hypothyroidism
63
Gonadotrophin independent causes of precocious puberty
Adrenal - tumours - congenital hyperplasia McUne Albright Syndrome Tumours producing sex hormones Exogenous tumours
64
What does isolated pubic hair growth or virilisation of the genitalia suggest about cause of precocious puberty
Tumour producing sex hormones
65
What is tumour causing precocious puberty in girls
Granulosa
66
What is tumour causing precocious puberty in boys
Leydig
67
How does premature puberty affect height
It may cause halt in growth as causes premature epiphyses of joints
68
When should late puberty be investigated in a boy
Past 14- expect it 9-14
69
What can present with premature thelarche between 6- 24 months
Premature thelarche provided no accompaniement of growth spurt or pubic hair development
70
How is precocious puberty investigated in girls
Bedside - height and weight - examination- neuro and genital Bloods - hormone profile Imaging - USS of pelvic organs - X-ray of wrists
71
What looking for in pelvic USS of precocious puberty
Enlarged uterus Polycystic ovaries
72
How is gonadotrophin dependant precocious puberty treated
Treat cause Gonadotrophin agonists with GH as GNRH stunts bone growth
73
Causes of delayed puberty
Constitutional delay Low gonadotrophin - systemic disease/exercise/stress causing function hypogonadotrophins - panhypoituitarism - intracranial pathology - hypothyroidism - kallmann High gonadotrophin - klinefelters - turner - acquired gonadal failure
74
Klinefelters genetic problem
47XXY
75
Presentation of klinefelters
Tall Small testicles Learning difficulties Poor muscular development
76
What testicular volume describes onset of puberty
4ml
77
How does panhypopituitarism tend to present as cause of delayed puberty
Hypoglycaemia- as other causes of thyroid deficiencies present before
78
Management of congenital adrenal hyperplasia
IV hydrocortisone IV dextrose
79
Investigation for CAH in children
17 hydroxyprogesterone In neonate have to do USS as 170Hprogesterone confounded for by mother
80
How is DM identified
Symptoms and 1 fasting or random glucose Asymptomatic and 2 fasting or random glucose Asymptomatic and 1 poor OGTT
81
Management of constitutional delay of puberty
1st line- reassure and observe 2nd- IM testosterone every 6 weeks for 6 months if male transdermal oestrogen
82
Management of primary gonadal failure causing delayed puberty
Boys- testosterone injection Girls- oestrogen replacement
83
Why is testosterone and oestrogen replacement done slowly in primary gonadal failure
To prevent premature fusion of the epiphyses
84
How is whether puberty has started assessed in girls
Tanners grading scale for breast development
85
How is gonadotrophin independant precocious puberty treated
Ketoconazole
86
How treat precocious puberty from CAH
Hydrocortisone GNRH agonist
87
How to differentiate between gonadotrophin independent vs dependent precocious puberty
GNRH stimulating test If high then dependant If suppressed then independant
88
What causes a marked delay in bone age
GH deficiency Hypothyroidism
89
How can congenital adrenal hyperplasia present
Salt losing crisis Ambiguous genitalia Undescended testicles Hypoglycaemia
90
What is unilateral gynaecomastia in puberty
Normal part of process
91
How do downs syndrome childrens height progress
Slower than normal development Given special growth charts instead of normal red book
92
When is FISH vs karyotyping indicated
FISH is for microdeletions such as cri cri and DiGeorge
93
How can the guthrie blood spot miss some causes of congenital hypothyroidism
If cause is due to panhypopituitarism as the guthrie spot tests for high TSH and would be low in congenital
94
When is propanolol given in hyperthyroidism
To control symptoms affecting daily life
95
Features of marfans
Tall High arched palate Chest wall deformity Lens dislocation Arm span > height Joint hypermobility
96
Cardiac issues with marfans
Mitral valve prolapse Aortic arch abnormalities
97
What is sight defect seen in marfans
Myopia- short sightedness
98
What at risk of when have an infection in addisons
Addisonian crisis
99
Recurrent AOM in a short female
Turners
100
What are spoon shaped nails seen in
Turners due to lymphoedema
101
Management of suspected T1DM in GP
Same day referral to be seen by paediatrics team
102
Inheritance of fragile X
X linked autosomal dominant
103
What is shield shaped chest and low hair line seen in
Turners
104
What is micrognathia
Small lower jaw
105
What is problem of pierre robin sequence
Difficulty feeding and breathing
106
How is Pierre robin sequence managed
Attempts to help feed with specialised equipment before surgery is indicated
107
MOst common genetic cause of trisomy 21
Meiotic non-dysjunction

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