Paediatrics 2 ( Opth, Resp, ENT, Genetics, Endocrine) Flashcards
Explain the Hypothalamic-Pituitary Gonadal Axis?
- Hypothalamus = release GnRH
- Anterior pituitary gland = FSH and LH
- acts on testes and Ovaries
- Sex hormone action
what is the first sign of puberty for males and females?
Females = breast buds 8-13 yrs
Males = testicular enlargement 9-14 yrs
What are the different categories for delay in puberty causes?
Tertiary = problem in hypothalamus
Secondary = problem in pituitary
Primary = problem in gonads
Define: Klinefelter syndrome
male has an additional X chromosome making them 47 XXY
Presentation: Kleinfelder syndrome
appear as normal males until puberty
Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)
Management: Klinefelter syndrome
No cure
- Testosterone injections = improve many of the symptoms
- Advanced IVF techniques have the potential to allow fertility
- Breast reduction surgery for cosmetic purposes
Multidisciplinary team input:
- Speech and language therapy to improve speech and language
- Occupational therapy to assist in day to day tasks
- Physiotherapy to strengthen muscles and joints
- Educational support where required for dyslexia and other learning difficulties
What does Klinefelter syndrome increase your risk of?
- Breast cancer compared with other males (but still less than females)
- Osteoporosis
- Diabetes
- Anxiety and depression
Infertility = can be treated with advanced IVF
Define: Turner syndrome
Female has a single X chromosome making them 45 X0
Presentation: Turner’s syndrome
Short stature
Webbed neck
Broad chest with widely spaced nipples
High arching palate
Downward sloping eyes with ptosis
Cubitus valgus (elbow when extended is exaggerated away from the body)
Underdeveloped ovaries with reduced function
Late or incomplete puberty
Most women are infertile
What are the effects of Turner’s syndrome on prenatal, neonatal, adults and fertility?
Prenatal: increased nuchal translucency
Neonatal: Lymphoedema
Cardiac: Aortic coarctation
Fertility: dysplastic ovaries (risk of malignancy)
What are seem associated conditions with Turner’s syndrome?
Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities
Management: Turner’s syndrome
No cure
Growth hormone therapy = can be used to prevent short stature
Oestrogen and progesterone replacement = can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
Fertility treatment = can increase the chances of becoming pregnant
What are the most common causes of primary hypogonadism?
Males = Klinefelter’s syndrome
Both = chemo/radiotherapy
Galactosemia
Trauma/surgery
Females = Turner’s syndrome
What are the most common causes of secondary + tertiary hypogonadism?
Intracranial tumours
Chemotherapy / Radiotherapy
Congenital enzyme / receptor mutations
Prader-Willi syndrome
Sport
Eating disorders
Malnutrition
Chronic disease
Marijuana
What are the 2 types of hypogonadism?
lack of sex hormones, oestrogen and testosterone
- Hypogonadotrophic hypogonadism = deficiency of LH and FSH
- hypergonadotrophic hypogonadism = lack of response to LH and FSH by the gonads
What are the causes of hypogonadotrophic hypogonadism?
Abnormal functioning of hypothalamus or pituitary gland due to:
- Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer
- Growth hormone deficiency
- Hypothyroidism
- Hyperprolactinaemia (high prolactin)
- Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
- Excessive exercise or dieting can delay the onset of menstruation in girls
- Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
- Kallman syndrome
What are the causes of hypergonadotrophic hypogonadism?
Gonads fail to respond to stimulation so increasing amounts of LH and FSH are produced by pituitary (no negative feedback)
- Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
- Congenital absence of the testes or ovaries
- Kleinfelter’s Syndrome (XXY)
- Turner’s Syndrome (XO)
Define: Kallman syndrome
genetic condition causing hypogonadotrophic hypogonadism
- resulting in failure to start puberty
- associated with reduced or absent sense of smell (anosmia)
Investigations: hypogonadism
No evidence of puberty in a girl aged 13 or a boy aged 14
initial:
- Full blood count and ferritin for anaemia
- U&E for chronic kidney disease
- Anti-TTG or anti-EMA antibodies for coeliac disease
Hormonal blood tests:
- Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism.
- Thyroid function tests
- Growth hormone testing. - Insulin-like growth factor I is often used as a screening test for GH deficiency.
- Serum prolactin
Genetic testing
What imaging investigations can be done for hypogonadism?
Xray of the wrist = to assess bone age and inform a diagnosis of constitutional delay
Pelvic ultrasound = in girls to assess the ovaries and other pelvic organs
MRI = of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
Management: hypogonadism
treat underlying condition
- replacement sex hormones can be used to induce puberty under guidance
Define: precocious puberty
Puberty at an abnormally young age
Girls before 8 yrs
Boys before age 9
What are the 2 types of precocious puberty?
- Central precocious puberty ‘true’
- gonadotrophin dependent types
- premature activation of hypothalamic pituitary gonadal - Peripheral/ pseudo precocious puberty
- independent of gonadotrophin release
- increased production of female or male hormones
- oestrogen and testosterone high, FSH and LH suppressed
What are the causes of central precocious puberty?
- idiopathic 80% of girls and 40% of boys
- abnormalities of CNS
- tumours
- CNS trauma or injury
- harartomas og hypothalamus
- congenital disorders e.g. hydrocephalus
what are the causes of peripheral precocious puberty?
- congenital adrenal hyperplasia
- tumours
- Mc-Cune Albright sundrome
- Sliver-russell syndrome
- testotoxicosis
- severe hypothyroidism
- exogenous oestrogen/androgen exposure
Investigations: precocious puberty
- measure levels of sex steroid
- Gonatrophins = LH and FSH
- TFTs
- adrenal steroid precursors
- HCG
- urinary 17-ketosteroids
imaging
- pelvic USS
- x-rays = check bone age
Management: precocious puberty
surgery = remove tumours
medical
- GnHR agonists
- glucocorticoid = for CAH
- testolactone = aromatase inhibitor
- tamoxifen
What are the different types of diabetes?
- type 1
- type 2
- MODY = maturity onset diabetes of the young, mutation
- neonatal = under 6 months
- Wolfram = optic atrophy + deafness
- Gestational diabetes
- LADA = latent autoimmune diabetes in adults
- others = include secondary causes such as CF related diabetes, thalassaemia
What are the risk factors of type 1 diabetes?
- family history
- genetics
- geography
- age
What are the main features of type 1 diabetes?
- polyuria
- polydipsia
- weight loss
- tiredness
(toilet, tired, thirsty, thinner)
how to diagnose type 1?
- usually acute presentation via GP or ED
- must be same day referral to hospital
- may present compensating or in DKA
What are the features of type 2 in children?
- incidence rising
- very aggressive and worse prognosis than T1
- at presentation 44% have hypertension + 25% kidney disease
What are the risk factors for type 2 diabetes in children?
- obesity
- girls
- non-white ethnicity
- deprivation
What is the pathophysiology of type 2?
The response to insulin is diminished, producing insulin resistance, initially countered by an increase in insulin production to try and maintain glucose homeostasis.
(body stops reacting to insulin)
Investigations: diabetes to diagnose diabetes?
Symptoms PLUS
random venous plasma glucose concentration >11.1 m/mol
OR
a fasting plasma glucose con >7 m/mol
OR
2 hr plasma glucose conc >11.1 2 hrs after 75g anhydrous glucose in an OGTT
pre diabetes for T2 42-48 hbA1c
Management: Type 1
insulin treatment
(long acting and rapid acting for meals)
- pen therapy is usual initial treatment
- fixed doses to start with and then carb counted meals
- insulin sensitivity factor for correction doses
Define: DKA
not producing or injecting adequate insulin
- cells have no glucose so start producing ketones as fuel
Presentation: T1 in DKA
- polydipsia
- polyuria
- rapid breathing
- lethargic
- nausea and vomiting
- abdominal pain
- hyperventilation
- dehydration
- reduced level of consciousness
What are the 3 things to diagnose DKA?
- Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
- Ketosis (i.e. blood ketones > 3 mmol/l)
- Acidosis (i.e. pH < 7.3)
What are the scales of severity of DKA?
MILD – pH < 7.3 or plasma bicarbonate <15 mmol/l
MODERATE – pH <7.2 or plasma bicarbonate < 10 mmol/l
SEVERE – pH < 7.1 or plasma bicarbonate < 5 mmol/l
One to one nursing or HDU if under 2 years or severe DKA
What might a DKA blood gas look like?
pH 7.06
pCO2 2.8
BE – 15
HC03 13
management: DKA
- fluids first to rehydrate
- insulin (to switch off ketone production)
-monitor glucose hourly - monitor electrolytes esp K= and ketones
- very strict fluid balance
- hourly neuro obs
What are the complication of DKA?
cerebral oedema
shock
hypokalaemia
aspiration
thrombus
Management: T2
- Lifestyle – physical activity, sleep, screentime
- Metformin +/- Insulin therapy
- Consideration of GLP- 1 agonists – Liraglutide (>10 years), Semaglutide (> 18 years)
- Diet - Calorie / carb reduction – weight loss
What are the signs of autonomic hypoglycaemic?
Irritable
Hungry
Shaky
Anxious
Sweaty
Palpitations
Pallor
What are the signs of neuroglycopenic hypoglycaemia?
(severe - lack of glucose in brain)
Confused
Drowsy
Hearing or visual problems
Headache
Slurred speech
Unusual behaviour / moodiness
Coma
Seizures
Management: hypoglycaemia
mild
- rapid acting glucose e.g. lucozade
- slower acting carbs e.g. biscuits, toast
severe (impaired consciousness)
- IV dextrose
- IM glucagon
What are the complications of diabetes?
Immediate / short term:
hypo or hyperglycaemia
DKA
Long term:
Microvascular – albuminuria and retinopathy
Macrovascular – hypertension and hypercholesterolaemia
Blindness, kidney failure, heart disease, stroke, and amputations
Lipo0hypertrophy (injection sites
Diabetes Burnout
Diabulimia
Self harm with insulin
High carb loads and insulin therapy leading to insulin resistance and high BMI, increasing metabolic risk
Define: William’s syndrome
deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7)
- random deletion
Presentation: William syndrome
Broad forehead
Starburst eyes (a star-like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable trusting personality
Mild learning disability
What conditions are associated with William’s syndrome?
Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
Hypercalcaemia
Management: William’s syndrome
No cure
- physio
- OT
- speech and language therapist
- ECG + BP monitoring = aortic stenosis and hypertension
- low calcium diet
When is hearing routinely tested?
- Newborn Hearing Screening Programme
= aims at birth to identify >40dBHL moderate, severe and profound deafness
Misses mild losses or sloping losses - School Screening Programme =
When start full time school
What are the common causes of hearing loss?
Congenital
Maternal rubella or cytomegalovirus infection during pregnancy
Genetic deafness can be autosomal recessive or autosomal dominant
Associated syndromes, for example Down’s syndrome
Perinatal
Prematurity
Hypoxia during or after birth
After birth
Jaundice
Meningitis and encephalitis
Otitis media or glue ear
Chemotherapy
What high risk groups are monitored for hearing loss?
- Cystic Fibrosis/ Chemotherapy before and after treatments due medication
- CMV (Cytomegalovirus)
- Head Trauma
- Cleft lip/palate
- Downs Syndrome
What are the types of hearing loss?
Conductive Hearing Loss
Sensori-neural Hearing Loss
Mixed Hearing Loss
What are the features and causes of conductive hearing loss?
A problem in the middle ear (to do with ear drum not he nerves)
Glue ear
Ear wax
Middle ear infection
perforated eardrum
abnormality of the outer ear
eustachian tube dysfunction
Management: conductive hearing loss
Most conductive losses will resolve themselves over time
ENT may insert grommets
Hearing Aids may be offered for persistent losses if parents decline surgery
In the case of permanent conductive losses, Bone Anchored Hearing Aid (BAHA) may be fitted
What are the features of sensorineural hearing loss?
- usually permanent
Management: sensorineural hearing loss
- usually managed by hearing aids
- The aim is to raise the level of hearing so that as much speech is as audible as possible
- In the case of profound hearing losses, who cannot receive sufficient benefit from hearing aids, cochlear implants may be recommended.
Management: mixed hearing loss
The conductive element will be addressed first.
A hearing aid will be issued to help make all parts of speech audible, especially the high frequencies.
What are the different subjective hearing losses for children?
Distraction Test- 6-18 Months
Visual Reinforcement Audiometry- 6-30 Months
Performance Testing- 24 Months+
Pure Tone Audiometry- 3 years+
What are the types of foreskin abnormalities?
- pathological non- retractible foreskin BXD
- can also have normal non-retractible foreskin
- hypospadias
What is hypospadias?
- urethra is lower down
- foreskin missing on the underneath of the penis
- penis curves when erected
- undescended testes
Mx = surgery + sometimes combined with circumcision
Define: congenital adrenal hyperplasia
- congenital deficiency of 21 hydroxyls enzyme
- enzyme is responsible for converting progesterone into aldosterone, cortisol and makes testosterone
- underproduction of cortisol + aldosterone (as no enzyme)
- over production of androgens form birth (this doesn’t need the enzyme so more testosterone is produced)
autosomal recessive
Presentation: severe congenital adrenal hyperplasia
Females present with ambiguous genitalia = enlarged clitoris
More severe present with
- hyponatraemia
- hyperkalaemia
- hypoglycaemia
presentation in mild congenital adrenal hyperplasia?
Female patients:
Tall for their age
Facial hair
Absent periods
Deep voice
Early puberty
Male patients:
Tall for their age
Deep voice
Large penis
Small testicles
Early puberty
Management: congenital adrenal hyperplasia
- Cortisol replacement = hydrocortisone, similar to treatment for adrenal insufficiency
- Aldosterone replacement = usually with fludrocortisone
- Female patients with “virilised” genitals may require corrective surgery
Define: hydrocele
collection of fluid within the tunics vaginalis that surrounds the testes
What are the
simple hydrocele
= common in newborns, fluid is trapped in tunica vaginalis
- fluid gets reabsorbed over time
Communicating hydrocele
- tunic vaginalis around the testicle is connected with the peritoneal cavity via a pathway called the processes vaginalis > so fluid can travel from peritoneal cavity into hydrocele
Investigation: hydrocele
Transillumination not as effective on children
Feel if there is a gap between the top of the testes and the inguinal canal ‘can get above it’
(compared to a hernia where its coming out from the inguinal ring so no gap)
What are the key differential diagnoses of a scrotal or inguinal swelling in a neonate?
Hydrocele
Partially descended testes
Inguinal hernia
Testicular torsion
Haematoma
Tumours (rare)
Management: hydrocele
USS
simple hydroceles resolve on their own within 2 yrs
Communicating = surgical operation to remove or lager the connection between peritoneal cavity and hydrocele
Its it normal for children to have enlarged lymph nodes and what are the red flags?
- normal in children as exposed to so many infections and illnesses
red flags:
>2cm
inflamed >2/52
growing
What are the features of Thyroglossal cyst?
- moves when sticks tongue out
- lump in centre of neck
- embryological cause
- surgical removal = remove centre part of hyoid bone to prevent recurrence
What is a Branchial cleft remanants?
- embryological cause
- lined with resp epithelium so secret a white fluid
- surgery to remove them as can cause infection
What are dermoid cysts?
- fold of skin under the surface
- embryological
- continue to grow
- remove so they don’t keep enlarging
if on the midline = need CT or MRI first to ensure not involved with CSF
What is granuloma and omphalitis?
- infection of the umbilicus
- lay over the umbilical vein > portal vein
- can spread into liver and then into systemic system
What are the features of an umbilical hernia?
- no worry because bowel does not get trapped
- most resolve by 4 yrs of age
Are undescended testes common and are they palpable?
in 5% of boys
most resolve by 6 months
80% palpable
impalpable
- never developed
- intrabdominal = cannot examine,
- ectopic
What are the risk factors for undescended testes?
Family history of undescended testes
Low birth weight
Small for gestational age
Prematurity
Maternal smoking during pregnancy
Management: undescended testes
- watch + wait for most till 6 months
- surgery = orchidopexy between 6-12 months
Define: Downs syndrome
3 copies of chromosome 21
- trisomy 21
Presentation: Downs syndrome
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
What are the complications of Downs syndrome?
- Learning disability
- Recurrent otitis media
- Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
- Visual problems such myopia, strabismus and cataracts
- Hypothyroidism occurs in 10 – 20%
- Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
- Atlantoaxial instability
- Leukaemia is more common in children with Down’s
- Dementia is more common in adults with Down’s
What antenatal screening is available for Down’s syndrome?
Offered to all women to decide whether the women should receive more invasive tests for a definitive diagnosis
- Combined Test
- 11-14 weeks
- USS measure nuchal translucency = thickness of back of neck DS >6mm
- Maternal blood tests
= beta- human chorionic gonadotrophin (beta-HCG). A higher result indicates a greater risk.
= Pregnancy‑associated plasma protein‑A (PAPPA). A lower result indicates a greater risk. - triple test
14 - 20 weeks
- Beta-HCG = HIGHER result indicates greater risk.
- Alpha-fetoprotein (AFP) = LOWER result indicates a greater risk.
- Serum oestriol (female sex hormone) = LOWER result indicates a greater risk. - Quadruple Test
14 -20 weeks
- an additional test to add on to triple test
- Inhibin- A test = HIGHER result indicates greater risk
What antenatal testing is available for Downs Syndrome?
Screening test provide a risk score for the foetus having Down’s syndrome = risk greater than 1 in 150
- woman is offered amniocentesis or chorionic villus sampling
- Chorionic villus sampling (CVS)
- involves an ultrasound guided biopsy of the placental tissue.
- This is used when testing is done earlier in pregnancy (before 15 weeks). - Amniocentesis
- involves ultrasound guided aspiration of some amniotic fluid using a needle and syringe.
- This is later in pregnancy once there is enough amniotic fluid to make it safer to take a sample.
What non-invasive prenatal testing is offered for Down’s syndrome?
Blood test
- contains fragments of DNA some of which will come from the placenta tissue
- can be analysed and detect conditions
not definitive
Management: Down’s syndrome
Multidisciplinary team
Occupational therapy
Speech and language therapy
Physiotherapy
Dietician
Paediatrician
GP
Health visitors
Cardiologist for congenital heart disease
ENT specialist for ear problems
Audiologist for hearing aids
Optician for glasses
Social services for social care and benefits
Additional support with educational needs
Charities such as the Down’s Syndrome Association
What routine investigations are performed for children with Down’s syndrome?
- Regular thyroid checks (2 yearly)
- Echocardiogram to diagnose cardiac defects
- Regular audiometry for hearing impairment
- Regular eye checks
Define: Edwards syndrome
Trisomy 18 (extra chromosome)
- varies in severity and affects all areas of the body resulting in dysmorphic features and learning disability
- ‘rocker bottom feet’
Define: Patau syndrome
trisomy 13
- varies in severity
- dysmorphic features
- learning disability
- rocker bottom feet = soles of the feet convex (rounder outwards) in shape
Define: fragile X syndrome
- mutation in FMR1 (fragile X mental retardation 1) gene on the X chromosome
- plays a role in cognitive development in the brain
- x linked
What are the features of Fragile X syndrome?
delay in speech
language development.
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures
Management: Fragile X syndrome
no cure
Multidisciplinary team
- supportive + treat symptoms
- support learning disability
- manage autism + ADHD
- treat seizures
Define: Cystic fibrosis
Autosomal recessive constino affecting mucus glands
- genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7
- MC variant = delta-F508 mutation > codes for cellular channels
What is the pathophysiology of CF?
- thick pancreatic biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
- low volume thick airway secretions = reduce airway clearance resulting in bacterial colonisation and susceptibility to airway infections
- congenital bilateral absence of the vas deferens in males = patients have healthy sperm but no way fro sperm to travel from testes to the ejaculate
Presentation: cystic fibrosis
Symptoms
Chronic cough
Thick sputum production
Recurrent respiratory tract infections
Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
Abdominal pain and bloating
Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
Poor weight and height gain (failure to thrive)
Signs
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distention
Investigations: cystic fibrosis
- Newborn blood spot testing = is performed on all children shortly after birth and picks up most cases
- The sweat test = is the gold standard for diagnosis
- Genetic testing = for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth
How does the sweat test for CF work?
- patch of skin is chosen on arm or leg
- pilocarpine is applied to the skin on this patch
- electrodes placed on either side of patch
- current passed between them and causes skin to sweat
- sweat sent to lab fro testing for chloride concentration
chloride concentration for CF >60 mmol/l
What microbial colonisers most commonly affect CF patients?
- Staph aureus = LT prophylactic antibiotics
- Pseudomonas = difficult to treat as can be resistant
(avoid contact with other children with CF)
Management: cystic fibrosis
- Chest physiotherapy = several times a day is essential to clear mucus and reduce the risk of infection and colonisation
- Exercise = improves respiratory function and reserve, and helps clear sputum
- High calorie diet = is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy
- CREON tablets = to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes)
- Prophylactic flucloxacillin tablets = to reduce the risk of bacterial infections (particularly staph aureus)
- Treat chest infections when they occur
- Bronchodilators = such as salbutamol inhalers can help treat bronchoconstriction
- Nebulised DNase = (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear
- Nebulised hypertonic saline
- Vaccinations = including pneumococcal, influenza and varicella
- lung transplant = end stage resp failure
- liver transplant = liver failure
- fertility treatment = testicular sperm extraction for infertile males
- genetic counselling
What monitoring is there for CF?
- managed in clinic every 6 months
- require regular monitoring of their sputum for colonisation of bacteria
- screening for diabetes, osteoporosis, vitamin D deficiency and liver failure
What is the prognosis for CF?
Median life expectancy of 47 yrs
- 90% of patients with CF develop pancreatic insufficiency
- 50% of adults with CF develop cystic fibrosis-related diabetes and require treatment with insulin
- 30% of adults with CF develop liver disease
- Most males are infertile due to absent vas deferens
Define: Angelman syndrome
genetic condition caused by loss of function of UBE3A gene
- specifically the copy of the gene from the mother
- deletion on chromosome 15 = 2 copies of chromosome 15 are contributed by the father with no copy from the mother
presentation: angelman syndrome
Delayed development and learning disability
Severe delay or absence of speech development
Coordination and balance problems (ataxia)
* Fascination with water
* Happy demeanour
Inappropriate laughter
Hand flapping
Abnormal sleep patterns
Epilepsy
Attention-deficit hyperactivity disorder
Dysmorphic features
Microcephaly
Fair skin, light hair and blue eyes
* Wide mouth with widely spaced teeth
Management: Angelman syndrome
No cure
Parental education
Social services and support
Educational support
Physiotherapy
Occupational therapy
Psychology
CAMHS
Anti-epileptic medication where required
Define: Prader Willi syndrome
genetic condition caused by loss of functional genes on the proximal arm of the chromosome 15 inherited form the father
- deletion or both copies of chromosome 15 inherited from mother
What are the features Prader Willi syndrome?
- Constant insatiable hunger that leads to obesity
- Poor muscle tone as an infant (hypotonia)
Mild-moderate learning disability
Hypogonadism
Fairer, soft skin that is prone to bruising
Mental health problems, particularly anxiety
Dysmorphic features
Narrow forehead
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
Management: Prader willi syndrome
no cure
- carefully limit access to food e.g. lock on cupboards/fridge
- growth hormone = to improve muscle development and body composition
Dieticians play a very important role
Education support
Social workers
Psychologists or psychiatrists
Physiotherapists
Occupational therapists
Define: Noonan syndrome
genetic condition
- autosomal dominant
What are the associated conditions with Noonan syndrome?
- Congenital heart disease = particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
- Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women.
- Learning disability
- Bleeding disorders
- Lymphoedema
- Increased risk of leukaemia and neuroblastoma
Presentation: noonan syndrome
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism (wide space between the eyes)
Prominent nasolabial folds
Low set ears
Webbed neck
Widely spaced nipples
Management: Noonan syndrome
no cure
multidisciplinary team
Main complication = congenital heart disease > heart surgery
What is a wheeze?
- whistling sound
- on expiration
- polyphonic noise
- reflects narrowing in medium to small airways
What is stridor?
- inspiration
- harsh, high pitched noise
e.g. in croup
What are crepitations?
alveoli popping open
reflecting increased secretions
What are the reasons for recurrently wheezing children?
persistent infantile wheeze
- small airways,
- smoking,
- viruses
Viral episodic wheeze
- no interval symptoms
- URI triggered
Asthma
- persistent symptoms
- FH
- atopic
Other causes
Define: virally induced wheeze
acute wheezy illness caused by a viral infection
- small children <3yrs have small airways that when encounter a virus develop inflammation and oedema, swelling the airways and restricting space for air to flow
- and tiggers smooth muscles to constrict
What are the difference between virally induced wheeze and asthma?
Presenting before 3 years of age
No atopic history
Only occurs during viral infections
Presentation: virally induced wheeze
viral illness for 1-2 days preceding
Shortness of breath
Signs of respiratory distress
Expiratory wheeze throughout the chest
+/- decreased air entry
Management: virally induced wheeze
Airway:
Oxygen
Breathing
Salbutamol inhalers or nebulisers
Dexamethasone if mod-severe
Circulation
If severe/life-threatening for:
IV access
IV hydrocortisone
IV Magnesium +/- IV Aminophylline +/- IV salbutamol
Define: bronchiolitis
inflammation and infection in the bronchioles
- caused by a virus = respiratory syncytial virus MC
Presentation: bronchiolitis
children under 1 yr
- Coryzal symptoms = running or snotty nose, sneezing, mucus in throat and watery eyes.
- Signs of respiratory distress
- Dyspnoea (heavy laboured breathing)
- Tachypnoea (fast breathing)
- Poor feeding
- Mild fever (under 39ºC)
- Apnoeas = episodes where the child stops breathing
- Wheeze and crackles on auscultation
What are signs of respiratory distress?
- Raised respiratory rate
- Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
- Intercostal and subcostal recessions
- Nasal flaring
- Head bobbing
- Tracheal tugging
- Cyanosis (due to low oxygen saturation)
- Abnormal airway noises
What is grunting?
exhaling with the glottis partially closed to increase positive end-expiratory pressure
What are the reasons to admit child to hospital?
- Aged under 3 months or any pre-existing condition such as prematurity, Downs syndrome or cystic fibrosis
- 50 – 75% or less of their normal intake of milk
- Clinical dehydration
- Respiratory rate above 70
- Oxygen saturations below 92%
- Moderate to severe respiratory distress, such as deep recessions or head bobbing
- Apnoeas
- Parents not confident in their ability to manage at home or difficulty accessing medical help from home
Investigations: bronchiolitis
Nasopharyngeal aspirate for RSV and other resp viruses
Management: bronchiolitis
supportive management
- ensuring adequate intake = orally/NG tube/IV fluids
- saline nasal drops and nasal suctioning = clear secretions
- supplementary oxygen = if O2 <92%
- ventilatory support if required
What ventilatory support can be offered?
- high flow humidified oxygen = delivers air and oxygen continuously and adds positive end-expiratory pressure to maintain the airway at the end of expiration
- continuous positive airway pressure
- intubation and ventilation = inserting an endotracheal tube into the trachea to fully control ventilation
How to assess and signs of poor ventilation?
- capillary blood gases
signs:
- rising pCO2 = airways have collapsed and can’t clear waste CO2
- falling pH = CO2 buildup, respiratory acidosis > type 2 resp failure
What prevention management is given for bronchiolitis?
Palivizumab
- monoclonal antibody that targets RSV
- monthly injection given as prevention against bronchiolitis
- given to high risk babies e.g. premature, congenital heart disease
- provides passive protection
- levels of circulating antibodies decrease over time
What presentation would suggest a diagnosis of asthma?
- Episodic symptoms with intermittent exacerbations
- Diurnal variability, typically worse at night and early morning
- Dry cough with wheeze and shortness of breath
- Typical triggers
- A history of other atopic conditions such as eczema, hayfever and food allergies
- Family history of asthma or atopy
- Bilateral widespread “polyphonic” wheeze heard by a healthcare professional
- Symptoms improve with bronchodilators
How to diagnose asthma?
not diagnosed until at least 2/3 yrs
- Spirometry with reversibility testing (in children aged over 5 years)
- Direct bronchial challenge test with histamine or methacholine
- Fractional exhaled nitric oxide (FeNO)
- Peak flow variability measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks
Management: chronic asthma in <5yrs
- Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
- Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast)
- Add the other option from step 2.
- Refer to a specialist
Management: chronic asthma 5-12 yrs
- Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
- Add a regular low dose corticosteroid inhaler
- Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
- Titrate up the corticosteroid inhaler to a medium dose. Consider adding:
- Oral leukotriene receptor antagonist (e.g. montelukast)
- Oral theophylline - Increase the dose of the inhaled corticosteroid to a high dose.
- Referral to a specialist. They may require daily oral steroids.
management: chronic asthma >12 yrs
same as adults
- short-acting beta 2 agonist inhaler (e.g. salbutamol)
- Add a regular low dose corticosteroid inhaler
- Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
- Titrate up the corticosteroid inhaler to a medium dose. Consider a trial of an oral leukotriene receptor antagonist (i.e. montelukast), oral theophylline or an inhaled LAMA (i.e. tiotropium).
- Titrate the inhaled corticosteroid up to a high dose. Combine additional treatments from step 4, including the option of an oral beta 2 agonist (i.e. oral salbutamol). Refer to specialist.
- Add oral steroids at the lowest dose possible to achieve good control under specialist guidance.
What is the technique for using an inhaler without a spacer?
Remove the cap
Shake the inhaler (depending on the type)
Sit or stand up straight
Lift the chin slightly
Fully exhale
Make a tight seal around the inhaler between the lips
Take a steady breath in whilst pressing the canister
Continue breathing for 3 – 4 seconds after pressing the canister
Hold the breath for 10 seconds or as long as comfortably possible
Wait 30 seconds before giving a further dose
Rinse the mouth after using a steroid inhaler
What is the technique for using an inhaler with a spacer?
Assemble the spacer
Shake the inhaler (depending on the type)
Attach the inhaler to the correct end
Sit or stand up straight
Lift the chin slightly
Make a seal around the spacer mouthpiece or place the mask over the face
Spray the dose into the spacer
Take steady breaths in and out 5 times until the mist is fully inhaled
presentation: acute asthma
Progressively worsening shortness of breath
Signs of respiratory distress
Fast respiratory rate (tachypnoea)
Expiratory wheeze on auscultation heard throughout the chest
The chest can sound “tight” on auscultation, with reduced air entry
A silent chest is an ominous sign = airways so tight so not possible to take in enough oxygen
Management: acute asthma
- oxygen of needed
- betas agonist, ipratopium bromide +
- steroids = prednisolone or dexamethasone
- IV salbutamol bolus
- aminophylline/MgSO4/ salbutamol infusion
What is the criteria for moderate asthma exacerbation?
Peak flow >50% predicted
Normal speech
No features listed across
What is the criteria for severe asthma exacerbation?
peak flow <50% predicted
saturations <92%
unable to complete sentences in one breath
signs of respiratory distress
resp rate:
> 40 in 1-5 years
> 30 in > 5 years
Heart rate
> 140 in 1-5 years
> 125 in > 5 years
What is the criteria for a life threatening asthma exacerbation?
peak flow <33% predicted
saturations <92%
exhaustion and poor respiratory effort
hypotension
silent chest
cyanosis
altered consciousness/confusion
Management: viral induced wheeze or asthma
- Supplementary oxygen = if required (i.e. oxygen saturations less than 94% or working hard)
- Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate)
- Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)
- Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)
Management: moderate to severe asthma
- Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours
- Nebulisers with salbutamol / ipratropium bromide
- Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days)
- IV hydrocortisone
- IV magnesium sulphate
- IV salbutamol
- IV aminophylline
intensive care unit, intubation and ventilation
When to discharge a child after an asthma exacerbation?
well on 6 puffs 4 hourly of salbutamol
- finish course of steroids
- provide safety netting info
- provide asthma action plan
Define: croup
an acute infective respiratory disease affecting young children
- 6 months to 2 yrs
- URTI causing oedema in the larynx
What is the cause of croup?
MC = parainfluenza virus
- influenza
- adenovirus
- respiratory syncytial virus RSV
diphtheria = epiglottis and has high mortality
Presentation: croup
- Increased work of breathing
- worsen at night
- “Barking” cough, occurring in clusters of coughing episodes
- Hoarse voice
- Stridor
- Low grade fever
Management: Croup
managed at home with supportive treatment
- fluids
- rest
- sit up
- stay off school to avoid spreading infection
oral dexamethasone = single dose
in worse
- oxygen
- nebulised budesonide
- nebulised adrenaline
- intubation and ventilation
Define: epiglottitis
inflammation and swelling of the epiglottis caused by infection
- typically haemophiliac influenza type B
- rare now due to vaccines
- can swell and completely block airways
presentation: epiglottitis
Patient presenting with a sore throat and stridor
Drooling
Tripod position, sat forward with a hand on each knee
High fever
Difficulty or painful swallowing
Muffled voice
Scared and quiet child
Septic and unwell appearance
Investigations: epiglottitis
- if acutely well no investigations need to be performed
lateral x-ray of the neck
- ‘thumb sign’ = soft tissue shadow that looks like a thumb pressed into the trachea
- caused by oedematous and swollen epiglottis
- and rule out foreign body
Management: epiglottitis
emergency
keep child calm so airway doesn’t close further
- alert senior paediatrician + anaesthetist
- ensure airway is open - put tube down
- intubation ready (may need to do a tracheostomy)
- IV antibiotics e.g. ceftriaxone
- steroids e.g. dexamethasone
What respiratory infections are upper and lower tract?
upper
- rhinitis
- otitis media
- pharyngitis
- tonsillitis
- laryngitis
Lower
- ‘bronchitis’
- croup
- epiglottitis
- tracheitis
- bronchiolitis
- pneumonia
Define: pneumonia
an infection of the lung tissue
- causes inflammation of the lung tissue and sputum filling the airway and alveoli
- consolidation on CXR
Presentation: pneumonia
Cough (typically wet and productive)
High fever (> 38.5ºC)
Tachypnoea
Tachycardia
Increased work of breathing
Lethargy
Delirium (acute confusion associated with infection)
What presentation of pneumonia can indicate secondary sepsis?
Tachypnoea (raised respiratory rate)
Tachycardia (raised heart rate)
Hypoxia (low oxygen)
Hypotension (shock)
Fever
Confusion
What are the characteristics chest signs hear on auscultation of pneumonia?
- Bronchial breath sounds = harsh breath sounds that are equally loud on inspiration and expiration. These are caused by consolidation of the lung tissue around the airway.
- Focal coarse crackles = caused by air passing through sputum similar to using a straw to blow into a drink.
- Dullness to percussion = due to lung tissue collapse and/or consolidation.
What are the causes of pneumonia?
bacterial:
- Streptococcus pneumonia is most common
Group A strep (e.g. Streptococcus pyogenes)
Group B strep occurs in pre-vaccinated infants, often contracted during birth as it often colonises the vagina.
Staphylococcus aureus. This causes typical chest xray findings of pneumatocoeles (round air filled cavities) and consolidations in multiple lobes.
Haemophilus influenza particularly affects pre-vaccinated or unvaccinated children.
Mycoplasma pneumonia, an atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme).
viral
- Respiratory syncytial virus (RSV) MC
- Parainfluenza virus
- Influenza virus
Investigations: pneumonia
CXR
find causative organism:
- sputum culture + throat swabs for bacterial cultures
- viral PCR
sepsis:
- blood cultures
capillary blood gas analysis = resp or metabolic acidosis + blood lactate
Management: pneumonia
antibiotics
1. amoxicillin –> IV benzylpenicillin
2. add macrolide to cover atypical pneumonia
3. macrolides = penicillin allergy
Oxygen
Antipyretics
What is the anatomy of the outer, middle and inner ear?
Outer
cartilaginous and bony
Middle:
Bones of hearing
Eustachian tube
Promontory
facial nerve
chorda tympani
Inner:
hearing and balance organs
(cochlea, utricle, saccule and vestibule)
Define: Otitis media
An infection in the middle ear
- space between the tympanic membrane and the inner ear
- bacteria enters from the back of the throat through the Eustachian tube
What are the main causes of otitis media?
MC = streptococcus pneumoniae
Other common causes include:
Haemophilus influenzae
Moraxella catarrhalis
Staphylococcus aureus
Presentation: Otitis media
- ear pain
- reduced hearing
- fever
- cough
- sore throat
can cause balance issues and vertigo
tympanic membrane perforates = discharge
Investigation: Otitis media
Otoscope
- examination both ears and throat
tympanic membrane will look:
- bulging
- red
- inflamed
Management: otitis media
most will resolve without antibiotics within 3 days
prescribe antibiotics to patient with:
- significant comorbidities
- systemically unwell
- immunocompromised
- <2yrs with bilateral otitis media
- discharge
- amoxicillin for 5 days
- erythromycin and clarithromycin
Referral
- <3 months with a temp >38
What are the complications of otitis media?
Otitis medial with effusion
Hearing loss (usually temporary)
Perforated eardrum
Recurrent infection
Mastoiditis (rare)
Abscess (rare)
Define: otitis externa
Inflammation of the skin in the external ear canal
- infection can be localised or diffuse
- acute <3 weeks or chronic
What causes otitis externa?
- swimming
- trauma e.g. from cotton buds or earplugs
- removing ear wax
What are the bacterial causes of otitis externa?
Pseudomonas aeruginosa
Staphylococcus aureus
Presentation: otitis externa
Ear pain
Discharge
Itchiness
Conductive hearing loss (if the ear becomes blocked)
examination:
Erythema and swelling in the ear canal
Tenderness of the ear canal
Pus or discharge in the ear canal
Lymphadenopathy (swollen lymph nodes) in the neck or around the ear
Management: otitis externa
Mild:
Acetic acid 2%
- can be used prophylactically before and after swimming
Moderate
- topical antibiotic and steroid
e.g. Otomize ear spray
Severe
- oral antibiotics
- discussion with ENT
fungal = clotrimazole ear drops
What is malignant otitis externa?
severe and life threatening
- infection spreads to the bones surrounding the ear canal and skull
- progresses to osteomyelitis of the temporal bone of the skull
usually related to underlying risk factors
- diabetes
- immunocompromised medications
- HIV
Presentation: malignant otitis externa
- persistent headaches
- severe pain
- fever
granulation tissue = adjunction between the bone and cartilage in the ear canal
management: malignant otitis externa
emergency
- Admission to hospital under the ENT team
- IV antibiotics
- Imaging (e.g., CT or MRI head) to assess the extent of the infection
What are the complications of malignant otitis externa?
Facial nerve damage and palsy
Other cranial nerve involvement (e.g., glossopharyngeal, vagus or accessory nerves)
Meningitis
Intracranial thrombosis
Death
Define: Glue ear
otitis media with effusion
- middle ear becomes full of fluid causing a loss of hearing in that ear
- if Eustachian tube is blocked causes ear sections to build up in the middle ear space
Presentation: glue ear
- reduced hearing in that ear
otoscope
- dull tympanic membrane with air bubbles or a visible fluid level
Management: glue ear
- Referral to audiometry
- establish diagnosis
- extent of hearing loss - usually resolves without treatment within 3 months
- Grommets
- tiny tubes inserted into the tympanic membrane by an ENT surgeon
- allows fluid form the middle ear to drain through the tympanic membrane to the ear canal
- fall out within a year
Define: cholesteatoma
an uncommon abnormal collection of skin cells inside your middle ear behind the tympanic membrane
Management: cholesteatoma
keep ear dry and sage
perforation - close it
Mastoidectomy = Remove cholesteatoma while preserving hearing if possible or leaving scope for reconstruction
What is choanal atresia?
- congenital condition
- nasal passages are blocked by bone or tissue
- causes breathing difficulties
Management: choanal atresia
Surgery to make a hole through the bone or tissue blocking the nasal passages
- put a nasal stent in th ehole
What is the reason and location of nosebleeds?
AKA epistaxis
- originate form Kiesselbach’s plexus aka Little’s area
- Area of nasal mucosa at the front of the nasal cavity that contains a lot of blood vessels
Triggers: nosebleeds
- nose picking
- cold
- vigorous nose blowing
- trauma
- changes in the weather
unilateral
Management: nosebleeds
resolve usually
- sit up and tilt head forwards
- squeeze soft part of nostrils together for 10-15 mins
- spit any blood out rather than swallowing
Recurrent/severe
- nasal packing using nasal tampons or inflatable packs
- nasal cautery using a silver nitrate stick
Define: sinusitis
inflammation os the paranasal sinuses in the face
- usually accompanied by inflammation of the nasal cavity = rhino sinusitis
rare in children
What are sinusitis like at birth?
maxillary sinuses
- exist at birth
- grows full size after second dentition
Ethmoids
- 2-3 cells at birth
Frontals
- rudimentary or absent at birth (develops by 7-8 yrs)
Sphenoids
- recognised at birth
Define: periorbital cellulitis
medical emergency
- URTI followed by a painful swollen eye
Presentation: periorbital cellulitis
- proptosis
- red colour vision = sign of optic nerve compromise
- unilateral eye swelling and pain
Management: periorbital cellulitis
- IV antibiotics
- incision and drainage of abscess = open or endoscopic
Define: laryngomalacia
part of the larynx above the vocal cords is structured in a way that allows it to cause partial airway obstruction
- leads to chronic stridor on inhalation when the larynx flops across the airways as the infant breaths in
Presentation: laryngomalacia
occurs in infants, peaks at 6 months
- inspiratory stridor
(harsh whistling sound, more prominent when feeding, lying on back)
- cause difficulties with feeding
Management: laryngomalacia
- problems resolves as larynx matures and grows
- rare tracheostomy = insert tube through the front of the neck into the trachea bypassing the larynx
Define: periorbital cellulitis
an eyelid and skin infection in front of the orbital septum
Presentation: periorbital cellulitis
swollen
red, hot skin
Management: periorbital cellulitis
must differentiate from orbital cellulitis = (emergency
refer to ophthalmology
CT scan
T = systemic antibiotics
Investigation: squint
- inspect eye
- corneal light reflex test (Hirschberg test)
- cover test
- test range of eye movement
What are the red flags for a squint?
Limited abduction.
Double vision.
Headaches.
Nystagmus (involuntary, repetitive, side-to-side oscillation of the eyes).
management: squint
- corrective glasses
- occlusion therapy = to treat lazy eye amblyopia
- penalisation therapy = oral is deliberately blurred by drops to force them to use the other eye
- eye exercises
- surgery
- botulinum toxin
What are the different types of muscular dystrophy?
Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (BMD)
Other less common types of MD include:
Emery-Dreifuss muscular dystrophy (humeroperoneal MD – affecting the arms and distal legs)
Limb-girdle muscular dystrophy
Facioscapulohumeral muscular dystrophy (affecting the face, scapula and arms)
Aetiology: duchennes and Beckers musclar dystrophy
- x linked recessive
- mainly affect males
Presentation: muscular dystrophy
- progressive weakness = start tin proximally and moving distally with the lower limbs affected before upper
- delayed motor milestones
- waddling gait
- faltering growth
- fatigue
DMD = present from 2yrs and at 12 most are in wheelchairs, death in 2nd or 3rd decade
BMD = present later, more mild
Investigations: muscular dystrophy
Serum creatine kinase
- peak at age 2 and then steadily declines due to progressive muscle wasting
- genetic analysis
- muscle biopsy = analysis of dystrophin protein
- electromyography
- ECG + echo = cardiomyopathy
- lung function test = restrictive lung disease secondary to muscle weakness
Management: muscular dystrophy
intimal
- education
- offer screening to family
- immunisations
early
- corticosteroids = prolong Childs ability to walk
- vit D and calcium supplements = enhance bone health
- physiotherapy = prevent development of contractors
- orthoses = required to stabilise the knee,ankle and foot to prolong childs walking
later stage
- wheelchair
- counselling
- orthopaedic input
- cardiac and respiratory surveillance
Presentation: testicular torsion
usually triggered by playing sports
- acute rapid onset unilateral testicular pain
- abdo pain
- vomiting
- firm swollen testicle
- elevated testicle
- absent cremasters reflex
- abnormal testciular lie
- rotation
What is a bell clapper deformity?
a cause of testicular torsion
fixation between the testicle and the tunica vaginalis is absent
- testicle hangs in a horizontal plane
- Able to rotate within the tunica vagibalis, twisting at the spermatic cord
- cutting off the blood supply
Management: testicular torsion
emergency
- Nil by mouth, in preparation for surgery
- Analgesia as required
- Urgent senior urology assessment
- Surgical exploration of the scrotum
- Orchiopexy (correcting the position of the testicles and fixing them in place)
- Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis
What is seen on a scrotal USS for testicular torsion?
whirlpool sign
investigations not reccomended as will delay surgery
What are the types of hypothroidism in children?
can be:
1. Congenital
- underdeveloped thyroid gland (dysgenesis)
- fully developed gland that doesn’t produce enough hormone (dyshormonogenesis)
- Acquired
- autoimmune = Hashimoto’s thyroiditis
Presentation: hypothyroidism
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
Management: hypothyroidism
Ix:
- thyroid function blood tests (TSH, T3, T4)
- thyroid USS
- thyroid antibodies
Mx
- levothyroxine = orally once a day
What is androgen insensitivity syndrome:
cells are unable to respond to androgen hormones due to a lack of androgen receptors
- x-linked recessive genetic condition
- mutation in androgen receptor gene
- extra androgens are converted into oestrogen
genetically male with XY but have females phenotype externally
Presentation: androgen insensitivity syndrome
presents with inguinal hernias
primary amenorrhoea
Investigations: androgen insensitivity syndrome
results of hormone tests are:
Raised LH
Normal or raised FSH
Normal or raised testosterone levels (for a male)
Raised oestrogen levels (for a male)
Management: androgen insensitivity syndrome
Bilateral orchidectomy (removal of the testes) = to avoid testicular tumours
Oestrogen therapy
Vaginal dilators or vaginal surgery = can be used to create an adequate vaginal length
