Passmed Flashcards
What causes Klinefelter syndrome?
When a male has an additional X chromosome
What is the genotype in Klinefelter syndrome?
47 XXY
When does Klinefelter syndrome usually present?
At puberty
What features are commonly seen in Klinefelter syndrome?
Tall
Wide hips
Gynaecomastia
Weak muscle
Small testicles
Reduced libido
Shy
Infertile
Some learning difficulties
What is gynaecomastia?
Overdevelopment of breast tissue in boys or men
What is the management of Klinefelter syndrome?
Treat symptoms:
Testosterone injections
Advanced IVF
Breast reduction surgery
Physio/OT
What is the genotype in Turner syndome?
45,XO
What are the main features of Turner syndrome?
Short
Webbed neck
High arch palate
Broad with widely spaced nipples
Cubitis valgus
Underdeveloped ovaries
Infertility
Late/ incomplete puberty
What conditions is Turners associated with?
Otitis media
UTIs
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Learning disabilities
How it Turner syndrome managed?
Growth hormones
Oestrogen and Progesterone
Fertility treatment
What causes Down’s syndrome?
Three copies of chromosome 21
What are the key dysmorphic features of Down’s syndrome?
Hypotonia
Brachycephaly (small head)
Short neck and stature
Flattened face/ nose
Prominent epicanthic folds (eyelids)
Single palmar crease
Upward sloping palpebral fissues
What are the key complications of Down’s syndrome?
Learning disability
Recurrent otitis media
Deafness
Visual problems
Hypothyroidism
Cardiac defects
What cardiac defects are commonly seen in Down’s syndrome?
ASD
VSD
PDA
ToF
What is the first line test for Down’s syndrome
Combined test
When is the combined test performed?
11-14 weeks
What is involved in the combined test?
Ultrasound
Maternal blood tests
What combined test results would indicate Down’s syndrome?
Nuchal thickness ?6mm
High b-HCG
low PAPPA
When is the triple test performed?
14-20 weeks
What does the triple test look for?
Maternal blood tests:
b-HCG
AFP
Serum oestriol
If the screening tests provide a high risk for, what is then done to confirm Down’s syndrome?
Amniocentesis or chorionic villus sampling
What screening risk score would prompt further investigation?
> 1 in 150
When is chorionic villus sampling used?
Before 15 weeks gestation
What test can be done if women don’t want amniocentesis or CVS?
NIPT
What is the NIPT?
Non-invasive prenatal testing
What does NIPT involve?
Blood test from mother to look at fetal DNA
What routine investigations are important in children with Down’s syndrome?
Thyroid checks
Echocardiogram
Audiometry
Eye checks
What is the average life expectancy for someone with Down’s syndrome?
60
What causes Edwards syndrome?
Trisomy 18
What is the key feature of Edwards syndrome?
Small jaw
Low set ears
Overlapping fingers
Rocker bottom feet
Dysmorphic features
Learning disability
What causes Patau syndrome?
Trisomy 13
What key features are seen in Patau syndrome?
Polydactyly **
Cleft lip and palate
Microcephaly
Small eyes
Learning disability
Rocker bottom feet
Dysmorphic features
What causes fragile X syndrome?
Mutation in the fragile X mental retardation 1 (FMR1) gene on the X chromosome.
What does the FRM1 gene code for?
The fragile X mental retardation protein, which plays a role in cognitive development in the brain
Who is more affected by fragile X syndrome and why?
Men, because women have another X
What features are seen in fragile X syndrome?
Everything big
Long, narrow face
large ears
Large testicles
Hypermobility
ADHS
Autism
Delay in speech and language development
Intellectual disability
What causes Angelman syndrome?
Loss of function of the UBE3A gene inherited from the mother
What chromosome is affected in Angelman syndrome?
chromosome 25
What are the key features of Angelman syndrome?
Happy demeanour
Fascination with water
Learning disability
Developmental delay/ absence
Widely spaced teeth
What causes Prader-Willi syndrome?
Loss of functional genes on the proximal arm of chromosome 15 from the father
What are the key features of Prader-Willi syndrome?
Constant insatiable hunger
Hypotonia
How is Prader-Willi managed?
Careful limiting of food with dietitian
Growth hormone
MDT
What is the inheritance pattern of Noonan syndrome?
Autosomal dominant
What are the key features of Noonan syndrome?
Webbed neck**
Pectorus excavatum
Short
Broad forehead
Hypertelorism (wide space between eyes)
What conditions is Noonans associated with?
Congenital heart disease
Cryptorchidism
Learning disability
Bleeding disorders
What causes William syndrome?
Deletion of genetic material on chromosome 7
What are the key features of William syndrome?
Starburst eyes
Broad forehead
Very sociable
Wide mouth with big smile
What conditions is William syndrome associated with?
Supravalvular aortic stenosis
ADHD
Hypercalcaemia
Hypertension
Which genetic condition impairs sense of smell?
Kallman syndrome
What are the key features seen in Kallman syndrome?
Anosmia
Delayed puberty
What would blood results show in a patient with Klinefelters syndrome?
Hypergonadotropic hypogonadism:
Low testosterone
High LH and FSH
What would blood results show in a patient with Kallman syndrome?
Hypogonadotropic hypogonadism:
Low LH and FSH
What is androgen insensitivity syndrome?
Condition that causes end-organ resistance to testosterone
What is the inheritance pattern in androgen insensitivity syndrome?
X-linked recessive
What is the genotype and phenotype in people with androgen insensitivity syndrome?
Genotypically male (46,XY) with a female phenotype
What are the key features of androgen insensitivity syndrome?
Primary amenorrhoea
Little/ no axillary or pubic hair
Undescended testes causing groin swelling
(breast development may occur)
What is there a deficiency in in congenital adrenal hyperplasia?
21-hydroxylase enzyme
What does deficiency of 21-hydroxylase enzyme lead to in congenital adrenal hyperplasia?
Underproduction of cortisol and aldosterone and overproduction of androgens from birth
What is the inheritance pattern of congenital adrenal hyperplasia?
Autosomal recessive
What is the role of 21-hydroxylase?
Converts progesterone into aldosterone and cortisol
Why is excess testosterone in congenital adrenal hyperplasia?
Because the progesterone cannot be converted to aldosterone or cortisol, so gets converted to testosterone instead
How does severe congenital adrenal hyperplasia present in female patients?
Ambiguous genitalia and enlarged clitoris
How does very severe congenital adrenal hyperplasia present shortly after birth?
Hyponatraemia
Hyperkalamiea
Hypoglycaemia
How does mild congenital adrenal hyperplasia present in females?
Tall
Facial hair
Absent periods
Deep voice
Early puberty
How does mild congenital adrenal hyperplasia present in males?
Tall
Deep voice
Large penis
Small testicles
Early puberty
How is congenital adrenal hyperplasia managed?
Cortisol replacement
Aldosterone replacement
What are the main causes of primary amenorrhoea?
Gonadal dysgenesis (Turner’s syndrome)
Testicular feminisation (Androgen insensitivity syndrome)
Congenital malformations
Hypothalamic amenorrhoea (anorexia)
Congenital adrenal hyperplasia
Imperforate hymen
At what newborn stage is jaundice always pathological?
The first 24 hours
What are the causes of jaundice in the first 24 hours?
Rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
Do rhesus negative or rhesus positive women need additional treatment during pregnancy?
Rhesus negative
Why do rhesus negative women need additional treatment in pregnancy?
If the child is rhesus positive, then the blood may mix and the woman will produce antibodies to the rhesus D-antigen.
At what point does rhesus incompatibility become and issue and why?
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
What is haemolytic disease of the newborn
When a rhesus -ve mother’s rhesus antibodies attack the RBCs of the futus
What is the management of rhesus disease?
IM anti-D injections to rhesus- D negative women.
What do anti-D injections do to prevent rhesus disease?
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.
When are Anti-D injections routinely given?
28 weeks gestation
Birth (if the baby is rhesus +ve)
What is the Kleinhauer test?
Test performed to see how much fetal blood has passed to the mothers blood, and therefore if more doses of anti-D are required.
What is the most common cause of jaundice in 2-14 day old neonates?
Physiological (more common in breastfed babies)
After how many days is jaundice ‘prolonged’?
After 14 days
What is done to investigate prolonged jaundice?
Prolonged jaundice screen:
Biliburin
Coomb’s test
TFTs
FBC
Urine
U&Es
LFTs
What are the causes of prolonged jaundice?
Biliary atresia
Hypothyroidism
Galactosaemia
UTI
Breast milk jaundice
Prematurity
Congenital infections
What are the key speech and language developmental milestones?
9 months- mama and dada
2 years- 2 words together
3 years- what and who questions
4 years- why, when, how questions
What are the key fine motor/ vision milestones?
6mo- palmar grasp
9mo- points
12mo- good pincer grip
What are the key gross motor milestones?
3mo- hold up head
7-8mo- sits without support
9mo-crawls
13-15mo- walks unsupported
2- runs
4- hops
At what age would you refer a child if they cannot sit without support?
12 months
At what age would you refer a child if that can’t walk unsupported
18 months
What are the key social behaviour milestones?
6 weeks- smile
6mo- not shy
9mo- shy
What is ketogenesis?
When there is insufficient supply of glucose, so the liver converts fatty acids into ketones to be used as fuel
What are the classic triad of symptoms of hyperglycaemia?
Polyuria
Polydipsia
Weight loss
How does the body try to prevent ketoacidosis?
Kidneys produce bicarbonate to buffer the ketone acids
What is ketoacidosis?
Where the ketone and glucose levels in the blood get higher and higher, causing the blood to become acidic
Why do you get dehydrated in DKA?
Hyperglycaemia overwhelms the kidneys and glucose starts being filtered out into the urine. which draws water out too
Why do you get potassium imbalance in T1 diabetes?
Insulin usually drives potassium into cells
What must be given with insulin when correcting DKA and why?
Potassium, as there will be very low levels so once it starts going into the cells can cause arrhythmia
What are the most dangerous aspects of DKA that can kill the patient?
Dehydration, Potassium imbalance, acidosis
How will DKA present?
Polyuria
Polydipsia
N&V
Weight loss
Acetone breath
Dehydration
Altered conscioussness
How is DKA managed?
Correct dehydration over 48 hours
Fixed rate insulin infusion with potassium
Why is dehydration corrected over 48 hours in DKA?
To reduce the risk of cerebral oedema
What is the usual insulin regime for T1 diabetes?
Basal bolus (long acting + short acting)
