Endo and puberty Flashcards
What is factitious hypoglycaemia
Deliberate attempt to induce hypoglycaemia
Differentiating factitious hypoglycaemia from insulinoma
High levels of peptide C in insulinoma
Peptide C is normally cleaved
Genetic error in turners syndrome
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
What are ovaries like in turners syndrome
Ovaries are replaced by streak ovaries that can not produce oestrogen
Presentation of turners
Delayed puberty
Short stature
Cardiac issues
Horseshoe kidneys-> recurrent UTIs
Lymphoedema such as web necking
Risks of turners
Preductal aortic coarctation
Bicuspid aorta- most common cardiac abnormality
Horseshoe kidney
Increased risk of T2DM and hypothyroidism
Lymphatic issues
Which syndrome is associated with cystic hygroma
Turners
How do turners patients appear
Short
Webbed neck
Wide nipples
Low set ears
Outfacing arms
High arched palate
Pigmented naevi
Short 4th metacarpal
How can turners be picked up antenatally
Cystic hygroma, horseshoe and cardiac anomalies on antenatal scans
Chorionic villous sampling to do karyotyping
Treatment for turners
GH for growth and bone growth
Oestrogen replacement for breast and uterine development
IVF makes pregnancy possible
Short
Webbed neck
Wide nipples
Low set ears
Outfacing arms
High arched palate
Pigmented naevi
Short 4th metacarpal
Lymphoedema
Turners
Neonatal features of Downs
Upslanting palpebral features
Smal low set ears
Round flat face
Flat occiput
Hypotonia
Brushfield spots in iris
Single palmar crease
Duodenal atresia
Hirschprung disease
Complications of downs syndrome
Infertility
Learning difficulties
Repeated resp infections
ALL
Alzheimers
Hypothyroidism
Atlantoaxial instability
Fertility of males and females in downs syndrome
Males are infertile
Females are subfertile and have increased problems with pregnancy and labour
Genetic abnormality of edwards syndrome
Trisomy 18
Syndrome with omphalocele
Edwards
Gastro complications of edwards
Omphalocele
Eosophageal atresia
Hepatoblastoma
Cardiac complications of edwards
Septal defects
PDA
Renal complications of edwards
Horseshoe kidney
Wilms tumour risk
Resp complications of edwards
Pulmonary hypoplasia
Frequent infections
Cancer risks of edwards
Wilms tumour
Hepatoblastoma
Presentation of edwards syndrome
Failure to thrive and development issues
Risk factors for edwards syndrome
Maternal age
Female
Examination of edwards findings
Prominent occiput
Cleft lip and palate
Low set ears
Rockerbottom feet
Overlapping fingers
Microcephaly
Micrognathia (small jaw)
Why is fragile X called fragile X
Under microscope the X looks very fragile as the X is so condensed
Genetic mutation in fragile X
Mutation in FMR1
Trinucleotide repeat
Much worse in males as have only 1 FMR1
Presentation of fragile X
Intellectual disability
Delayed speech
Delayed motor development
Autism
ADHD
Seizure disorders
Premature ovarian failure
Examination features of fragile X
Long narrow face
Prominent jaw
Large ears
Large testes post puberty
Macrocephaly
Triad for pierre-robin sequence
Micrognathia
Posterior displacement of tongue which can cause airway obstruction (glossoptosis)
Cleft palate
Genetic abnormality of patau syndrome
Trisomy 13
Presentation of patau syndrome
Severe delay in development
Intellectual disability
Myelomingocele-> associated problems
GI, renal and cardio problems of pataus
GI-omphalocele
Renal- PCKD
Cardio- VSD, PDA, dextrocardia
Examination of patau
Scalp lesions from failure of skin to develop
Micropthalmia
One eye in middle of face
No nose
Polydactyly
Rockerbottom feet
Genetic abnormality in noonans
Mutated RAS/activated protein kinase
Examination findings of noonans
Webbed neck
Trident hairline
Pectus excavatum
Short
Cardiac abnormality in noonans
Pulmonary stenosis
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
Presentation of prader-willi and angelmans
Hypotonia
Hyperphagia
Almond shaped eyes
Hypogonadism
Epicanthal folds
Flat nasal bridge and upturned nose
Learning disability
Genetic abnormality of klinefelters
47 XXY
Features of klinefelters
Infertility
Hypogonadism
Gynaecomastia
Tall
Main complication of fragile X
Mitral valve prolapse
What is the genetic jinheritance mode of prader willi
Imprinting
Causes of tall stature
Familial
Obesity
Endocrine- CAH, precocious puberty, acromegaly
Genetic- klinefelters, marfans
Impact of obesity in childhood on height
Makes you taller during childhood as fuels growth however does not increase final height
Causes of obesity in a child
Tall( typically above 50th centile)
- simple obesity
Short
Prader willi
- endocrine; hypothyroidism, cushings, PCOS
Learning disabilites and obesity
Prader willi
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
Management of obesity in children
First line always conservative
Medical - orlistat in certain criteria
Surgical very specialised choice
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
Complications of obesity in children
Sleep apnoea- poor school performance
Orthopaedic- SUFE
PCOS
DM
High chol
Psych- bullying
What defines DKA
Acidosis- pH below 7.3 or bicarb below 15
Ketonamemia- blood beta hydroxybutyrate above 3 mmol/litre
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
What ketone is measured in DKA
beta-hydroxybutyrate
How to treat cerebral oedema from DKA
Mannitol or hypertonic saline
How is size of testicles assessed
Testicular volume- Orchidometer
Which staging system is used to track puberty
Tanner
Difference between when growth spurt occurs in males and females
Males- 18 months after start of puberty
Females- shortly after start of puberty
First sign of puberty in males
Increase in testicular volume size
When does menarche occur after onset of puberty
About 2.5 years
Most common cause of precocious puberty in girls
Idiopathic
How is precocious puberty classified
Gonadotrophin independant or dependant
Gonadotrophin dependant causes of precocious puberty
Idiopathic/familial
CNS abnormalities
- hydrocephalus
- infection
- post irradiation
- surgery
- tumours
Hypothyroidism
Gonadotrophin independent causes of precocious puberty
Adrenal
- tumours
- congenital hyperplasia
McUne Albright Syndrome
Tumours producing sex hormones
Exogenous tumours
What does isolated pubic hair growth or virilisation of the genitalia suggest about cause of precocious puberty
Tumour producing sex hormones
What is tumour causing precocious puberty in girls
Granulosa
What is tumour causing precocious puberty in boys
Leydig
How does premature puberty affect height
It may cause halt in growth as causes premature epiphyses of joints
When should late puberty be investigated in a boy
Past 14- expect it 9-14
What can present with premature thelarche between 6- 24 months
Premature thelarche provided no accompaniement of growth spurt or pubic hair development
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
What looking for in pelvic USS of precocious puberty
Enlarged uterus
Polycystic ovaries
How is gonadotrophin dependant precocious puberty treated
Treat cause
Gonadotrophin agonists with GH as GNRH stunts bone growth
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
Klinefelters genetic problem
47XXY
Presentation of klinefelters
Tall
Small testicles
Learning difficulties
Poor muscular development
What testicular volume describes onset of puberty
4ml
How does panhypopituitarism tend to present as cause of delayed puberty
Hypoglycaemia- as other causes of thyroid deficiencies present before
Management of congenital adrenal hyperplasia
IV hydrocortisone
IV dextrose
Investigation for CAH in children
17 hydroxyprogesterone
In neonate have to do USS as 170Hprogesterone confounded for by mother
How is DM identified
Symptoms and 1 fasting or random glucose
Asymptomatic and 2 fasting or random glucose
Asymptomatic and 1 poor OGTT
Management of constitutional delay of puberty
1st line- reassure and observe
2nd- IM testosterone every 6 weeks for 6 months if male
transdermal oestrogen
Management of primary gonadal failure causing delayed puberty
Boys- testosterone injection
Girls- oestrogen replacement
Why is testosterone and oestrogen replacement done slowly in primary gonadal failure
To prevent premature fusion of the epiphyses
How is whether puberty has started assessed in girls
Tanners grading scale for breast development
How is gonadotrophin independant precocious puberty treated
Ketoconazole
How treat precocious puberty from CAH
Hydrocortisone
GNRH agonist
How to differentiate between gonadotrophin independent vs dependent precocious puberty
GNRH stimulating test
If high then dependant
If suppressed then independant
What causes a marked delay in bone age
GH deficiency
Hypothyroidism
How can congenital adrenal hyperplasia present
Salt losing crisis
Ambiguous genitalia
Undescended testicles
Hypoglycaemia
What is unilateral gynaecomastia in puberty
Normal part of process
How do downs syndrome childrens height progress
Slower than normal development
Given special growth charts instead of normal red book
When is FISH vs karyotyping indicated
FISH is for microdeletions such as cri cri and DiGeorge
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
When is propanolol given in hyperthyroidism
To control symptoms affecting daily life
Features of marfans
Tall
High arched palate
Chest wall deformity
Lens dislocation
Arm span > height
Joint hypermobility
Cardiac issues with marfans
Mitral valve prolapse
Aortic arch abnormalities
What is sight defect seen in marfans
Myopia- short sightedness
What at risk of when have an infection in addisons
Addisonian crisis
Recurrent AOM in a short female
Turners
What are spoon shaped nails seen in
Turners due to lymphoedema
Management of suspected T1DM in GP
Same day referral to be seen by paediatrics team
Inheritance of fragile X
X linked autosomal dominant
What is shield shaped chest and low hair line seen in
Turners
What is micrognathia
Small lower jaw
What is problem of pierre robin sequence
Difficulty feeding and breathing
How is Pierre robin sequence managed
Attempts to help feed with specialised equipment before surgery is indicated
MOst common genetic cause of trisomy 21
Meiotic non-dysjunction
