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My Phase 3a Revision > PAEDS - GENETICS/ENDOCRINE > Flashcards

PAEDS - GENETICS/ENDOCRINE Flashcards

1
Q

GENETICS OVERVIEW
What is non-disjunction?
What is the outcome?
Management?
Karyotype?

A
  • Error in meiosis where pair of chromosomes fail to separate so one gamete has 2 chromosome copies and one has none
  • Fertilisation of the gamete with 2 chromosomes gives rise to a trisomy
  • Parental chromosomes do not need to be examined, related to maternal age
  • 47 chromosomes
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2
Q

GENETICS OVERVIEW
What is Robertsonian translocation?
Karyotype?

A
  • Extra copy of one chromosome is joined onto another chromosome
  • 46 chromosomes but 3 copies of one chromosomes material
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3
Q

GENETICS OVERVIEW
What is the management of Robertsonian translocation?

A
  • Parental chromosomes analysis is needed, one parent may be carrier
  • Translocation carriers have 45 chromosomes on karyotype (one is in wrong place)
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4
Q

GENETICS OVERVIEW
What are the 3 types of Mendelian inheritance?

A
  • Autosomal dominant
  • Autosomal recessive
  • X-linked (recessive)
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5
Q

GENETICS OVERVIEW
In terms of autosomal dominant inheritance…

i) inheritance chance?
ii) general rule?
iii) pattern of inheritance?
iv) examples?

A

i) 50%
ii) AD = structural protein defects
iii) No skipped generations, inherited regardless of sex
iv) Adult PCKD, familial hypercholesterolaemia, Marfan’s, Huntington’s disease, BRCA genes

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6
Q

GENETICS OVERVIEW
What are some reasons for autosomal dominant conditions presenting in families with no family history?

A
  • # 1 = non-paternity
  • New mutation
  • Gonadal mosaicism
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7
Q

GENETICS OVERVIEW
In terms of autosomal recessive inheritance…

i) inheritance chance?
ii) general rule?
iii) requirements to develop disease?
iv) carrier risk in siblings?
v) examples?

A

i) 25% from 2 carrier parents
ii) AR = affects metabolic pathways
iii) Two germline mutations (2 carrier parents)
iv) 2 in 3 (66%) as you take away possibility of them having the disease
v) CF, phenylketonuria, haemochromatosis

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8
Q

GENETICS OVERVIEW
What is a big risk factor for autosomal recessive conditions?
What is the outcome?

A
  • Consanguineous parents, esp. if many generations of it
  • Can give appearance of AD pedigree for a recessive condition
  • Particularly in people with Asian origin
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9
Q

GENETICS OVERVIEW
In terms of X-linked recessive inheritance…

i) who is affected?
ii) who transmits?
iii) what can occur in females?
iv) examples?

A

i) Males more than females
ii) NO male-male transmission but affected males can produce a carrier female
iii) Gonadal mosaicism may occur influenced by X inactivation (lyonisation)
iv) Haemophilia A, Duchenne’s + Becker’s, colour blindness

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10
Q

GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example

A
  • Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting)
  • Prader-Willi + Angelman’s syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15
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11
Q

GENETICS OVERVIEW
What do mitochondrial diseases lead to?
What is the inheritance?
Give some examples

A
  • Responsible for ATP production so if abnormal > poor production + hence myopathies
  • Exclusively maternally inherited from circular mitochondrial DNA in cytoplasm of ovum (sperm mitochondria in tail)
  • Myoclonic epilepsy, ragged red fibres (MERRF), mitochondrially inherited DM + deafness (DIDMOAD)
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12
Q

GENETICS OVERVIEW
What is gonadal mosaicism?

A
  • Some cells have mutations in genes giving rise to a particular phenotype e.g. birthmarks
  • Gonadal mosaicism is when germ cells involved
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13
Q

GENETICS OVERVIEW
Explain the process of gonadal mosaicism

A
  • Father = mosaic sperm (some sperm with mutated gene, some sperm normal)
  • Mother = all eggs with normal gene
  • Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene
  • Every cell of embryo has one copy of mutated + one copy of normal
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14
Q

GENETICS OVERVIEW
What are 3 ways of testing genes?

A
  • DNA analysis via polymerase chain reaction to amplify the DNA + determine the sequence of the relevant gene
  • Karyotyping (look at # of chromosomes, their size + basic structure)
  • Molecular cytogenic analysis = fluorescent in situ hybridisation (FISH) to detect presence, # + chromosomal location of specific sequences
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15
Q

GENETICS OVERVIEW
What is the purpose of DNA analysis?

A
  • Antenatal Dx (amniocentesis or CVS)
  • Confirm clinical Dx
  • Detect female carriers for X-linked disorders
  • Detect carriers of AR disorders
  • Pre-symptomatic diagnosis of AD disorders like Huntington’s disease
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16
Q

GENETICS OVERVIEW
In the case of Huntington’s disease, can healthy children be tested if parents consent for them?

A
  • No, have to be old enough to give informed consent themselves
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17
Q

DOWN’S SYNDROME
What is Down’s syndrome?
What is the life expectancy?

A
  • Trisomy 21 (3x copies of chromosome 21)
  • About 60y
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18
Q

DOWN’S SYNDROME
What are some risk factors?

A
  • Increasing maternal age #1 (1 in 100 by 40y, increased nondisjunction),
  • FHx
  • mother has Down’s (rare)
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19
Q

DOWN’S SYNDROME
What are the causes of Down’s syndrome?

A
  • Nondisjunction (95%) leaves cell with extra C21 so trisomy on fertilisation
  • Robertsonian translocation (4%) = long arm of C21 translocate to C14 often
  • Mosaicism (1%) = cells have mixed amounts of chromosomes
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20
Q

DOWN’S SYNDROME
What is the classical craniofacial appearance in Down’s syndrome?

A
  • Flat occiput (brachycephaly) + flat bridge of nose
  • Upward sloping palpebral fissures (eyes slant down + inwards)
  • Prominent epicanthic folds (skin overlying medial portion of eye + eyelid)
  • Short neck + stature
  • Small mouth, protruding tongue, small ears
  • Brushfield spots in iris (pigmented spots)
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21
Q

DOWN’S SYNDROME
Other than craniofacial anomalies, what other anomalies can be seen in Down’s syndrome?

A
  • Widely separated first + second toe (sandal gap)
  • Hypotonia
  • Single transverse palmar (simian) crease
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22
Q

DOWN’S SYNDROME
What are some complications of Down’s syndrome?

A
  • LDs + delayed motor milestones
  • Complete AVSD
  • Atlantoaxial instability = risk of neck dislocation during sports
  • Hypothyroidism, duodenal atresia, Hirschsprung’s
  • Hearing + visual impairment, strabismus
  • Increased ALL + early-onset dementia
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23
Q

DOWN’S SYNDROME
How is Down’s syndrome diagnosed?

A
  • Women offered antenatal screening/testing (combined test, CVS, amniocentesis)
  • Clinical suspicion + then FISH for Dx when born
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24
Q

DOWN’S SYNDROME
What regular investigations are required for Down’s syndrome?

A
  • Regular thyroid checks (every 2y)
  • ECHO to Dx any cardiac defects
  • Regular audiometry + eye checks
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25
Q

DOWN’S SYNDROME
What is the management of Down’s syndrome?

A

MDT –

  • Specialist Dr’s (CHD, hypothyroid)
  • Social services (social care + benefits)
  • Optician + audiologist
  • OT/physio/SALT
  • Additional support with educational needs
  • Charities like Down’s syndrome association
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26
Q

PATAU’S SYNDROME
What is Patau’s syndrome?

A
  • Severe physical + mental congenital abnormalities due to trisomy 13
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27
Q

PATAU’S SYNDROME
What are some clinical features of Patau’s syndrome?

A
  • Microcephalic, scalp lesions, small eyes + other eye defects
  • Cleft lip + palate
  • Polydactyly (think 13 fingers)
  • Cardiac + renal malformations
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28
Q

EDWARD’S SYNDROME
What is Edward’s syndrome?

A
  • Trisomy 18, mostly F
  • Severe psychomotor + growth retardation if survive 1st year of life
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29
Q

EDWARD’S SYNDROME
What is the clinical presentation of Edward’s syndrome?

A
  • Prominent occiput
  • Small mouth + chin (micrognathia)
  • Low set ears
  • Flexed, overlapping fingers
  • Rocker-bottom feet (flat)
  • Cardiac + renal malformations
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30
Q

EDWARD’S SYNDROME
For both Patau’s and Edward’s syndrome, what are the investigations?

A
  • Antenatal abnormalities detected on USS (foetal anomaly scan)
  • Prenatal Dx with amniocentesis or CVS via DNA PCR
  • Karyotyping genetic analysis confirms at birth
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31
Q

FRAGILE X SYNDROME
What is fragile X syndrome?

A
  • Inherited condition, 2nd most common cause of LD
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32
Q

FRAGILE X SYNDROME
What causes it?

A

Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X

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33
Q

FRAGILE X SYNDROME
What does fragile X result in?

A
  • Mutation in fragile X mental retardation 1 (FMR1) gene on X chromosome
  • Inadequate FMRP which plays a role in cognitive development
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34
Q

FRAGILE X SYNDROME
What sex is affected by fragile X syndrome?

A

Always males but females vary

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35
Q

FRAGILE X SYNDROME
Why do females vary in how much they are affected by fragile X syndrome?

A
  • Spare copy on other X chromosome + reduced penetrance
  • Even with full mutation usually have fewer problems
  • Number of CGG repeats often increases as it’s inherited so caution in future
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36
Q

FRAGILE X SYNDROME
What are some cognitive features of fragile X syndrome?

A
  • Intellectual disability
  • Delay speech + language
  • Delayed motor development (may be secondary to hypotonia)
  • Aggressive, hyperactive + poor impulse control
  • “Cocktail personality” = happy bouncy children
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37
Q

FRAGILE X SYNDROME
What are some physical features of fragile X syndrome?

A
  • Long narrow face + large ears
  • Large testicles after puberty
  • Hypermobile joints (esp. hands)
  • Hypersensitivity to stimuli
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38
Q

FRAGILE X SYNDROME
What is associated with fragile X syndrome?

A
  • Autism (up to 30%)
  • Seizures
  • ADHD
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39
Q

FRAGILE X SYNDROME
What issues can fragile X premutation carriers suffer from?

A
  • Men can get Fragile X-associated tremor ataxia syndrome (FXTAS) = intention tremor, ataxia, memory + cognitive issues as adult, white matter changes on MRI
  • Females can get FMR1-related POI (endocrinologist input)
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40
Q

FRAGILE X SYNDROME
What are the investigations for fragile X syndrome?

A
  • Carrier testing in pregnancy women, can have CVS or amniocentesis
  • FISH to look at content of cells, DNA testing once born to count # of CGG repeats
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41
Q

FRAGILE X SYNDROME
What is the management of fragile X syndrome?

A
  • OT = daily tasks
  • Social services = social care + benefits
  • Special education = learning help
  • Challenging behaviours may benefit from risperidone.
  • PO lorazepam in acute agitation (after de-escalation strategies)
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42
Q

TURNER’S SYNDROME
What is Turner’s syndrome?

A
  • Lack of a second X chromosome in a female leading to 45, XO
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43
Q

TURNER’S SYNDROME
What is the clinical presentation of Turner’s syndrome?

A
  • Short stature, webbed neck, shield chest + widely spaced nipples (classic)
  • Delayed puberty, underdeveloped ovaries > primary amenorrhoea + infertility
  • Cubitus valgus
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44
Q

TURNER’S SYNDROME
What are some complications of Turner’s syndrome?

A
  • Coarctation or bicuspid aortic valve
  • Increased risk of CHD > HTN, obesity
  • DM, osteoporosis, hypothyroidism
  • Recurrent otitis media + UTIs
  • Horseshoe kidney, susceptible to x-linked recessive conditions
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45
Q

TURNER’S SYNDROME
What is the investigation of choice for Turner’s syndrome?

A
  • Karyotyping after clinical suspicion = 45XO
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46
Q

TURNER’S SYNDROME
What is the management of Turner’s syndrome?

A
  • GH therapy to prevent short stature
  • Oestrogen + progesterone replacement to establish 2ary sex characteristics, regulate menstrual cycle + prevent osteoporosis
  • Fertility treatment like IVF
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47
Q

DUCHENNE’S
What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
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48
Q

DUCHENNE’S
What is the clinical presentation of Duchenne’s muscular dystrophy?

A
  • Proximal muscle weakness from 5y
  • Delayed milestones
  • Waddling gait
  • Gower sign +ve
  • Calf pseudohypertrophy (replaced by fat + fibrous tissue)
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49
Q

DUCHENNE’S
What is Gower’s sign?

A
  • Patient uses hands + arms to “walk” themselves upright from a squatting position due to lack of hip + thigh muscle strength
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50
Q

DUCHENNE’S
What are some complications of Duchenne’s muscular dystrophy?

A
  • Wheelchair by 13y
  • Cardiac involvement (dilated cardiomyopathy) in teenagers
  • Resp involvement
  • Survival >30y unusual
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51
Q

DUCHENNE’S
What are some investigations for Duchenne’s muscular dystrophy?

A
  • Clinical exam = Gower’s sign
  • Creatinine kinase markedly raised
  • Genetic testing to confirm
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52
Q

DUCHENNE’S
What is the medical management of Duchenne’s muscular dystrophy?

A
  • Steroids (prednisolone) appear best treatment as improves QOL, longer life expectancy + decreased progression of heart problems
  • Manage congestive HF + arrhythmias with beta blocker, ACEi.
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53
Q

DUCHENNE’S
What is the supportive therapy for Duchenne’s muscular dystrophy?

A
  • OT = aids + adaptations to help live with condition
  • Physio = prevent contractures, scoliosis correction
  • NIV for resp failure, gene therapy
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54
Q

DUCHENNE’S
What is another type of muscular dystrophy very similar to Duchenne’s?
How does it differ?

A
  • Becker’s = some functional dystrophin produced
  • Features similar but clinically progresses slower, average age of onset 11y with inability to walk from 20s
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55
Q

KLINEFELTER SYNDROME
What is Klinefelter syndrome?

A
  • When a male has an additional X chromosome, making 47XXY
  • Rarely even more X chromosomes like 48XXXY (more severe)
  • Chief genetic cause of hypergonadotropic hypogonadism
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56
Q

KLINEFELTER SYNDROME
What is the clinical presentation of Klinefelter syndrome?

A
  • Often appear normal until puberty
  • Taller height + wider hips
  • Delayed puberty (lack of pubic hair, poor beard growth)
  • Gynaecomastia, small testicles/penis, infertility
  • Weaker muscles, shyness, subtle learning difficulties (esp. speech + language)
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57
Q

KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
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58
Q

KLINEFELTER SYNDROME
What is the medical management of Klinefelter syndrome?

A
  • Monthly testosterone injections to promote sexual characteristics
  • Advanced IVF techniques for infertility
  • Breast reduction surgery for cosmesis
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59
Q

KLINEFELTER SYNDROME
What is the MDT management for Klinefelter syndrome?

A
  • SALT
  • OT for day-day tasks
  • Physio to strengthen muscles + joints
  • Educational support if learning difficulties
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60
Q

PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
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61
Q

PRADER-WILLI SYNDROME
What is the clinical presentation of Prader-Willi syndrome?

A
  • Constant, insatiable hunger > hyperphagia + obesity
  • Initially failure to thrive due to hypotonia
  • Small genitalia, hypogonadism + infertility
  • Narrow forehead, almond eyes, strabismus
  • LDs, MH issues
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62
Q

PRADER-WILLI SYNDROME
What causes the constant, insatiable hunger in Prader-Willi?
How can this be managed?

A
  • Marked elevated levels of ghrelin (hormone associated with hunger)
  • Dietician = careful limitation of access to food to control weight (may have to lock food cupboards or fridge)
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63
Q

PRADER-WILLI SYNDROME
What is the management of Prader-Willi syndrome?

A
  • GH to improve muscle development + body composition

- MDT = education support, social workers, psychologists/CAMHS, physio + OT

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64
Q

ANGELMAN’S SYNDROME
What is Angelman’s syndrome?
What is it caused by?

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
  • Loss of function of maternal UBE3A gene
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65
Q

ANGELMAN’S SYNDROME
What is the clinical presentation of Angelman’s syndrome?

A
  • “Happy puppet” = unprovoked laughing, clapping, hand flapping, ADHD
  • Fascination with water
  • Epilepsy, ataxia, broad based gait
  • Severe LD, delayed development
  • Widely spaced teeth, microcephaly
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66
Q

ANGELMAN’S SYNDROME
What is the management of Angelman’s syndrome?

A
  • Chromosomal analysis with FISH to detect deletions
  • MDT approach = parental education, CAMHS, psychology, physio, SALT, OT
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67
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
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68
Q

NOONAN’S SYNDROME
What is the clinical presentation of Noonan’s syndrome?

A
  • Short stature, webbed neck, widely spaced nipples (Male Turner’s)
  • Pectus excavatum, low set ears
  • Hypertelorism (wide space between eyes)
  • Downward sloping eyes with ptosis
  • Curly/woolly hair
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69
Q

NOONAN’S SYNDROME
What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism which can lead to infertility (fertility in women normal)
  • LDs, bleeding disorders (XI deficient)
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70
Q

NOONAN’S SYNDROME
What is the management of Noonan’s syndrome?

A
  • MDT support
  • Main complication CHD so may need surgical correction
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71
Q

WILLIAM’S SYNDROME
What is William’s syndrome?

A
  • Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
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72
Q

WILLIAM’S SYNDROME
What is the clinical presentation of William’s syndrome?

A
  • Very friendly + sociable
  • Starburst eyes (star-pattern on iris)
  • Wide mouth, big smile + widely spaced teeth
  • Broad forehead, short nose + small chin
  • Mild LD, short stature
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73
Q

WILLIAM’S SYNDROME
What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
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74
Q

WILLIAM’S SYNDROME
What is the management of William’s syndrome?

A
  • MDT approach
  • ECHO + BP monitoring for complications
  • Low Ca2+ diet
  • FISH to confirm Dx
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75
Q

CONGENITAL HYPOTHYROIDISM
What is congenital hypothyroidism?

A
  • Affects 1 in 3000 births + causes severe neurological dysfunction which leads to severe learning difficulties later in life
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76
Q

CONGENITAL HYPOTHYROIDISM
What is the most common cause of congenital hypothyroidism…

i) worldwide?
ii) UK?
iii) consanguineous families?

A

i) Iodine deficiency
ii) Maldescent of the thyroid or an absent thyroid gland (athyrosis)
– Remains as a lingual mass or unilobular small gland
iii) Dyshormonogenesis (inborn error of thyroid hormone synthesis)
– Goitre due to TSH stimulation

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77
Q

CONGENITAL HYPOTHYROIDISM
What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Delayed mental + physical milestones
  • Puffy face, macroglossia + hypotonia
  • Failure to thrive + feeding problems
  • Coarse facies + hoarse cry
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78
Q

CONGENITAL HYPOTHYROIDISM
What are some investigations for congenital hypothyroidism?

A
  • Should be picked up on Guthrie neonatal bloodspot test
  • TFTs = TSH high, may have USS neck or thyroid isotope scan
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79
Q

CONGEN HYPOTHYROIDISM
What is the management of congenital hypothyroidism?
What has this helped prevent?
How can it be monitored?

A
  • Lifelong PO thyroxine 30m before breakfast
  • Titrate dose to maintain normal growth, start at age 2–3w
  • Severe neuro disability (spasticity, gait issues, dysarthria)
  • Normal TSH levels is most important at indicating long-term well controlled thyroid disease
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80
Q

JUVENILE HYPOTHYROIDISM
What is associated with an increased risk of juvenile hypothyroidism?

A
  • Increased risk with Down or Turner syndrome
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81
Q

JUVENILE HYPOTHYROIDISM
What causes it?

A

Most commonly autoimmune thyroiditis (e.g. Hashimoto’s)

82
Q

JUVENILE HYPOTHYROIDISM
What is the clinical presentation of juvenile hypothyroidism?

A

(Same as adult)

  • F>M, cold intolerance, dry skin, thin + dry hair
  • Bradycardia, constipation, goitre
  • Delayed puberty, obesity
83
Q

JUVENILE HYPOTHYROIDISM
What are the investigations for juvenile hypothyroidism?

A
  • TFTs will show high TSH, anti-thyroid peroxidase antibodies if hashimoto’s
84
Q

JUVENILE HYPOTHYROIDISM
What is the management of juvenile hypothyroidism?

A

Lifelong PO thyroxine replacement

85
Q

PUBERTY
In terms of female puberty…

i) age?
ii) first sign?
iii) other signs?

A

i) 8.5–12.5
ii) Thelarche (breast development)
iii) Pubarche (growth of pubic hair) + rapid height spurt occur rapidly after thelarche, menarche occurs roughly 2.5y after start of puberty (signals growth coming to an end)

86
Q

PUBERTY
In terms of male puberty…

i) age?
ii) first sign?
iii) other signs?

A

i) 10–14
ii) Testicular enlargement >4ml (Prader orchidometer)
iii) Pubarche follows testicular enlargement, height spurt about 18m after puberty but greater magnitude than in females

87
Q

PUBERTY
What features of puberty are consistent with both sexes?

A
  • Adrenarche = maturation of adrenal gland leading to androgen production causing body odour + mild acne
  • Development of acne, axillary hair, body odour + mood changes
88
Q

PUBERTY
What can be used to measure puberty?
What are the components?

A
  • Tanner staging
  • B (breasts)
  • PH (pubic hair)
  • G (male genitals)
89
Q

PUBERTY
Explain the tanner stages for…

i) breast?
ii) pubic hair?
iii) genitalia?

A

i) BI = pre-pubertal, BII = breast bud, BIII = juvenile smooth contour, BIV = areola + papilla project above breast, BV = adult
ii) PHI = none, PHII = sparse, PHIII = dark, coarser, curlier, PHIV = filling out, PHV = adult
iii) GI = pre-adolescent, GII = lengthens, GIII = growth in length + circumference, GIV = glans penis develops, GV = adult

90
Q

PRECOCIOUS PUBERTY
What are the 2 main types of precocious puberty?

A
  • Gonadotropin-dependent (central/true) = premature activation of hypothalamic-pituitary-gonadal axis
  • Gonadotropin-independent (pseudo/false) = excess sex steroids
91
Q

PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?

A

Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +

Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)

92
Q

PRECOCIOUS PUBERTY
What is precocious puberty in females?

A
  • Development of secondary sexual characteristics (thelarche) <8y
93
Q

PRECOCIOUS PUBERTY
What is the management of precocious puberty in females?

A
  • Full Hx, ages parents went into puberty, USS of uterus + ovaries
  • If ok = reassure
  • GnRH analogues stop puberty progressing further by suppressing pulsatile GnRH secretion until she is ready
94
Q

PRECOCIOUS PUBERTY
What is precocious puberty in males?

A
  • Development of secondary sexual characteristics <9y
  • Less common, more worrying
95
Q

PRECOCIOUS PUBERTY
What is the management of precocious puberty in males?

A
  • Full Hx including ages parents went into puberty
  • MRI head for ?tumour
  • Treat underlying cause
96
Q

PRECOCIOUS PUBERTY
What is premature thelarche?
Who does it normally affect?

A
  • Breast enlargement (may be asymmetrical) rarely beyond stage 3 but absence of axillary/pubic hair or growth spurt (differentiating from precocious puberty)
  • Females 6m–2y, non-progressive + self-limiting
97
Q

PRECOCIOUS PUBERTY
What is premature pubarche (adrenarche)?

A
  • Pubic hair development <8y (F), <9y (M) but no other signs of sexual development
98
Q

PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?

A
  • Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour
  • Urinary steroid profile to help differentiate
99
Q

PRECOCIOUS PUBERTY
What is the pathophysiology of pseudo precocious puberty?

A

Low LH + FSH as gonadal or extra-gonadal source leads to increased testosterone or oestrogen

100
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)

101
Q

PRECOCIOUS PUBERTY
What are the risk factors with premature pubarche (adrenarche)?

A
  • More common in Asian + Afro-Caribbean, increased risk of PCOS later in life
102
Q

PRECOCIOUS PUBERTY
What is the management for premature pubarche (adrenarche)?

A

USS of ovaries + uterus with bone age to exclude central precocious puberty

103
Q

PRECOCIOUS PUBERTY
What are the causes in females?

A

More common in girls, usually idiopathic or familial, occasionally late presenting CAH

104
Q

PRECOCIOUS PUBERTY
What are the causes in males?

A

Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)

105
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

McCune Albright syndrome (café-au-lait, short stature)

106
Q

CAH
What is congenital adrenal hyperplasia (CAH)?

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
107
Q

CAH
What is the normal physiology of the adrenal gland?

A
  • Glucocorticoids (cortisol) deal with stress > raise glucose, reduce inflammation, suppresses immune system
  • Mineralocorticoids (aldosterone) act on kidneys to control balance of salt (mineral) + Water in blood > increases Na+ reabsorption + K+ excretion
108
Q

CAH
What is a major risk factor?

A

Consanguineous parents

109
Q

CAH
What is the pathophysiology of CAH?

A
  • 21-hydroxylase responsible for converting progesterone into cortisol + aldosterone
  • Progesterone also used to create testosterone, but not with 21-hydroxylase
  • Excess progesterone (as not converted to aldosterone or cortisol) gets converted into testosterone instead (high)
110
Q

CAH
What is the clinical presentation of CAH in females?

A
  • Tall for age, facial hair, absent periods, deep voice + precocious puberty
  • Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris
111
Q

CAH
What is the clinical presentation of CAH in…

i) males?
ii) both sexes?

A

i) Tall for age, large penis + muscles, small testicles, deep voice + precocious puberty
ii) Skin hyperpigmentation as melanocyte stimulating hormone by-product of ACTH production (as low cortisol) > increased melanin

112
Q

CAH
What is a critical complication of CAH?

A
  • Male salt-losers present in salt-losing crisis shortly after birth
113
Q

CAH
How does salt-losing crisis present?

A

– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic

114
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

115
Q

CAH
What are some investigations for CAH?

A
  • Monitor growth, skeletal maturity, plasma androgens
  • High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)
116
Q

CAH
What management is needed for females with CAH?

A
  • Corrective surgery to external genitalia within 1st year
  • Definitive surgical reconstruction usually delayed until puberty
117
Q

CAH
What is the general management of CAH?

A
  • Lifelong glucocorticoids (hydrocortisone) to suppress ACTH > normal growth
  • Lifelong mineralocorticoids (fludrocortisone) if there’s salt loss, infants may need NaCl
  • Additional hydrocortisone to cover illness/surgery
  • Antenatal dexamethasone controversial treatment, risks>benefits currently
118
Q

SEXUAL DIFFERENTIATION
In embryology, when does sexual differentiation occur?
How does a male foetus not produce female sexual characteristics?

A
  • Foetal gonad bipotential until 6w
  • Sex-determining region on Y chromosome (SRY) gene present
  • Production of anti-mullerian hormone inhibits Mullerian (paramesonephric) duct from persisting which > uterus + fallopian tubes
119
Q

SEXUAL DIFFERENTIATION
How does a male foetus produce male sexual characteristics?

A
  • Leydig cells produce testosterone causing Wolffian duct differentiation > vas, epididymis, seminal vesicles
  • Later, dihydrotestosterone leads to virilised external genitalia
120
Q

SEXUAL DIFFERENTIATION
What is the process of female sexual differentiation?

A
  • No SRY gene present so no AMH

- Mullerian duct persists which develops into ovaries + female genitalia

121
Q

SEXUAL DIFFERENTIATION
What are some causes of sexual differentiation disorders?

A
  • CAH (#1)
  • Congenital hypopituitarism (Prader-Willi)
  • Ovotesticular disorder of sex development (true hermaphroditism) leading to both testicular + ovarian tissues as XX + XY containing cells present
122
Q

SEXUAL DIFFERENTIATION
What is the management of sexual differentiation disorders?

A
  • Do not guess sex
  • Karyotyping, adrenal + sex hormone levels measured
  • USS of internal structures + gonads
  • Surgical reconstruction may be delayed so individual can make choice
123
Q

DELAYED PUBERTY
What are the two categories for delayed puberty?

A
  • Hypogonadotropic hypogonadism = deficiency of LH + FSH leading to deficiency of sex hormones
  • Hypergonadotropic hypogonadism = gonads fail to respond to stimulation from gonadotrophins (LH + FSH), no -ve feedback from sex hormones so increased LH + FSH
124
Q

DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?

A
  • Constitutional delay in growth + puberty (FHx)
  • Chronic diseases (IBD, CF, coeliac)
  • Excess stress (anorexia, intense exercise, low weight)
  • Hypothalamo-pituitary disorders (panhypopituitarism, Kallman’s + anosmia, GH deficiency)
125
Q

DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?

A
  • Chromosomal abnormalities (Turner’s XO, Klinefelter’s 47XXY)
  • Acquired gonadal damage (post-surgery, chemo/radio, torsion)
  • Congenital absence of the testes or ovaries
126
Q

DELAYED PUBERTY
In delayed puberty, what are some causes of…

i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?

A

i) Turner’s, Prader-Willi + Noonan’s
ii) PCOS, androgen insensitivity, Kallmann’s + Klinefelter’s

127
Q

DELAYED PUBERTY
What is delayed puberty in…

i) females?
ii) males?

A

i) Absence of pubertal development by 14y
ii) Absence of pubertal development by 15y (more common in males)

128
Q

DELAYED PUBERTY
What are some investigations for delayed puberty?

A
  • FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies
  • Hormonal testing
  • Genetic testing/karyotyping
  • XR wrist to assess bone age (low in constitutional delay)
  • Pelvic USS to assess ovaries + other pelvic organs
  • MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)
129
Q

DELAYED PUBERTY
What are the hormonal tests you would do in delayed puberty?

A
  • Early morning serum gonadotropins (FSH/LH)
  • TFTs
  • GH provocation testing (insulin, glucagon)
  • IGF-1 levels
  • Serum prolactin
130
Q

DELAYED PUBERTY
What is the management of delayed puberty?

A
  • Constitutional = reassure, can Tx if severe distress
  • F = oestradiol
  • Young M = PO oxandrolone (weak androgenic steroid will induce some catch-up growth but not 2ary sexual characteristics)
  • Older M = low dose IM testosterone for growth + sexual characteristics
131
Q

TESTICULAR TORSION
What is testicular torsion?
Who is it most common in?

A
  • Twisting of the testis + spermatic cord resulting in testicular ischaemia
  • Common in adolescents + neonatal but can happen at any age
132
Q

TESTICULAR TORSION
What is the clinical presentation of testicular torsion?

A
  • Tender, red, painful testicle which may be swollen + retracted upwards
  • Loss of cremasteric reflex
  • Elevation of testis does not ease pain (differentiates epididymitis)
  • Acute abdo pain (lower abdo or scrotal), N+V
133
Q

TESTICULAR TORSION
What is a very similar differential diagnosis of testicular torsion?

A
  • Torsion of testicular appendage (hydatid)
  • Remnant of Mullerian duct, can rapidly enlarge prior to puberty due to gonadotropins
  • ‘Blue dot sign’
134
Q

TESTICULAR TORSION
What are the investigations of testicular torsion?

A
  • Doppler USS = decreased blood flow
  • Surgical exploration unless torsion can be excluded
135
Q

TESTICULAR TORSION
What is the management of testicular torsion?

A
  • Emergency surgical intervention > needs operating to untort within 6h
  • If testicle is dead > orchidectomy
136
Q

PICA
what is it?

A

an eating disorders in which a person eats things that are not usually considered food

137
Q

PICA
what is the clinical presentation?

A

craving/eating non-food items:
- dirt
- clay
- rocks
- paper
- ice
- crayons
- hair
- paint chips
- chalk
- faeces

138
Q

PICA
what health problems can be caused?

A
  • iron deficiency anaemia
  • lead poisoning
  • constipation or diarrhoea
  • infections
  • intestinal obstruction
  • mouth or teeth injuries
139
Q

PICA
what are the causes?

A
  • developmental problems e.g. autism
  • mental health problems e.g. OCD, schizophrenia
  • malnutrition or hunger
  • stress
140
Q

PICA
how is it diagnosed?

A

eating non-food items and:
- doing so for 1 month
- behaviour is not normal for child’s age
- has risk factors for pica

141
Q

PICA
what are the investigations?

A
  • blood tests - anaemia, lead levels
  • stool tests - parasites
  • x-rays
142
Q

PICA
what is the management?

A
  • prevent child from getting to non-food items
  • psychological support
143
Q

CRYPTORCHIDISM
What are the 3 types of cryptorchidism?

A
  • Retractile (normal variant in prepubescent boys)
  • Palpable
  • Impalpable
144
Q

CRYPTORCHIDISM
What is retractile cryptorchidism?

A
  • Testis can be manipulated into bottom of scrotum without tension but subsequently retracts into inguinal region (pulled by cremaster muscle)
  • Usually present later as hard to notice on NIPE, eventually testes should permanently reside in scrotum (follow-up to check)
145
Q

CRYPTORCHIDISM
What is palpable cryptorchidism?

A
  • Testis palpated in groin but cannot be manipulated into scrotum
  • Sometimes ectopic so lie outside the normal line of descent + may be found in perineum or femoral triangle
146
Q

CRYPTORCHIDISM
What is impalpable cryptorchidism?

A
  • No testis felt on detailed examination

- May be in the inguinal canal, intra-abdominal or absent

147
Q

CRYPTORCHIDISM
What are some investigations for cryptorchidism?

A
  • Genital exam = warm room + hands, relaxed child, try “milk” testes into scrotum
  • USS in bilateral impalpable testes to verify internal pelvic organs
  • Hormonal for bilateral impalpable testes to confirm presence of testicular tissue (record rise in serum testosterone in response to IM hCG)
  • Laparoscopy = Ix of choice for impalpable
148
Q

CRYPTORCHIDISM
What is the first line management of cryptorchidism?

A
  • If unilateral monitor as most newborns descend
  • Wait 3m then refer to paeds urologist so they’re seen by 6m
  • If bilateral needs urgent senior review within 24h
149
Q

CRYPTORCHIDISM
What is the management of cryptorchidism that has not resolved?

A
  • Surgical placement of testis in scrotum (orchidopexy = before or around 1y)
  • May need testosterone at age 10 to start puberty if absent altogether, ?prosthesis
150
Q

CRYPTORCHIDISM
What are the reasons for performing orchidopexy around 1y?

A
  • Fertility = optimises spermatogenesis as testis need to be below body temp
  • Malignancy = massive risk of seminoma in undescended testes
  • Cosmesis, psychological + avoid torsion
151
Q

KALLMAN SYNDROME
what is it?

A

genetic disorder that can be inherited via autosomal dominant, autosomal recessive and x-linked

152
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
153
Q

KALLMAN SYNDROME
why do you get anosmia in this condition?

A

due to a defect in the co-migration of GnRH releasing neurons and olfactory neurons that occurs during early foetal development

154
Q

ANDROGEN INSENSITIVITY SYNDROME
what is it?

A

a genetic condition in which there are defects in the androgen receptor
- is x-linked recessive
- patients are genetically male (46XY)but develop female phenotype

155
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the different types?

A
  • complete AIS
  • partial AIS
  • true hermaphroditism
156
Q

ANDROGEN INSENSITIVITY SYNDROME
what is complete AIS?

A
  • karyotype = 46XY
  • results in a completely female phenotype
  • external genitalia are female (clitoris, hypoplastic labia majora + blind-ending vagina)
  • testes may be present in abdomen
  • absence of pubic + axillary hair
  • normal breast development
157
Q

ANDROGEN INSENSITIVITY SYNDROME
what is partial AIS?

A
  • presents with a wide range of phenotypes
  • can present as normal male with fertility issues
  • sex assignment depends on the degree of genital ambiguity
158
Q

ANDROGEN INSENSITIVITY SYNDROME
what is true hermaphroditism?

A
  • have both ovarian tissue with follicles and testicular tissue with seminiferous tubules, either in the same organ or one on either side
  • external genitalia are often ambiguous
159
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

160
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
161
Q

ANDROGEN INSENSITIVITY SYNDROME
how does it typically present?

A
  • present in infancy with an inguinal hernia
  • present at puberty with primary amenorrhoea
162
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the management?

A
  • bilateral orchidectomy to avoid testicular tumours
  • oestrogen therapy
  • vaginal dilators or vaginal surgery
  • generally patients are raised as female
  • offered support and counselling
163
Q

HYPOGONADISM
Name the 3 types of hypogonadism?

A

Primary = hypergonadotropic hypogonadism
Secondary = hypogonadotropic hypogonadism
Tertiary = hypogonadotropic hypogonadism

164
Q

GONADOTROPIN DEFICIENCY
What is Hypergonadotropic hypogonadism?

A

Primary gonadal failure - Testes or ovarian failure

165
Q

GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of Hypergonadotropic hypogonadism

A

Gonads not working properly so less oestrogen/testosterone
Increase in GnRH as less negative feedback
Increase in LH and FSH
Hypogonadism occurs

166
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)

167
Q

GONADOTROPIN DEFICIENCY
What is the effect of Hypergonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?

A

FSH/LH = high
Oestrogen/testosterone = low

168
Q

GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?

A

Secondary gonadal failure = problem with pituitary
OR
Tertiary gonadal failure = Problem with hypothalamus

169
Q

GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of secondary hypogonadism

A

Less FSH and LH
So less activation at gonads
Girls = no response to feedback so oestrogen decreases
Boys = no response to feedback so testosterone decreases

170
Q

GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of tertiary hypogonadism

A

Less GnRH produced
So less FSH and LH
So less activation at gonads
Girls = no response to feedback so oestrogen decreases
Boys = no response to feedback so testosterone decreases

171
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
172
Q

GONADOTROPIN DEFICIENCY
What is the effect of hypogonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?

A

FSH/LH = low
Oestrogen/testosterone = low

173
Q

GONADOTROPIN DEFICIENCY
What is the treatment for hypogonadism?

A

Hormone replacement therapy

Males = testosterone gel/injections
Females = Ethinyl oestradiol or oestrogen (tablet or transdermal), progesterone added once full oestrogen dose reached

174
Q

HYPOTHALAMIC TUMOUR
what is it?

A

A hypothalamic tumour is an abnormal growth in the hypothalamus gland, which is located in the brain.

175
Q

HYPOTHALAMIC TUMOUR
what are the causes?

A

The exact cause of hypothalamic tumours is not known. It is likely that they result from a combination of genetic and environmental factors.

176
Q

HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?

A

neurofibromatosis
undergone radiation therapy

177
Q

HYPOTHALAMIC TUMOURS
what is the most common type of tumour to cause a hypothalamic tumour in children?

A

glioma

178
Q

HYPOTHALAMIC TUMOUR
what is the clinical presentation?

A
  • euphoric ‘high’ sensations
  • failure to thrive
  • headache
  • hyperactivity
  • loss of body fat and appetite
  • vision loss
  • precocious puberty
179
Q

HYPOTHALAMIC TUMOUR
what are the investigations?

A
  • full neurological examination
  • blood tests for CRH, GH, GnRH, TRH, dopamine and somatostatin
  • CT/MRI scan
  • visual field testing
180
Q

HYPOTHALAMIC TUMOURS
what is the management?

A
  • surgery
  • radiation
  • chemotherapy
  • steroids to treat brain swelling
  • hormone replacement/imbalance corrected
181
Q

OBESITY
when does NICE recommend intervention?

A

tailored intervention if >91st centile
assess for comorbidities if >98th centile

182
Q

OBESITY
what is the most common cause?

A

lifestyle factors

183
Q

OBESITY
what factors are associated with a higher rate of obesity?

A
  • asian children
  • female
  • tall
184
Q

OBESITY
what are the causes of obesity in children other than lifestyle factors?

A
  • growth hormone deficiency
  • hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
185
Q

OBESITY
what are the consequences of obesity in children?

A
  • orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
  • psychological consequences: poor self-esteem, bullying
    sleep apnoea
    benign intracranial hypertension
  • long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
186
Q

TYPE 1 DIABETES
what is the most common presentation for new patients?

A

diabetic ketoacidosis

187
Q

TYPE 1 DIABETES
what is the triad of symptoms?
what other symptoms may be present?

A
  • polyuria
  • polydipsia
  • weight loss
  • secondary enuresis
  • recurrent infections
188
Q

TYPE 1 DIABETES
what are the investigations for a new diagnosis?

A
  • FBC, U+Es, glucose
  • blood cultures
  • HbA1c
  • TFTs + TPO
  • anti-TTG
  • insulin antibodies, anti-GAD + islet cell antibodies
189
Q

TYPE 1 DIABETES
what is the long term management?

A
  • SC insulin
  • monitoring carbohydrate intake
  • monitoring for complications
190
Q

TYPE 1 DIABETES
what are the short term complications?

A
  • hypoglycaemia
  • hyperglycaemia and DKA
191
Q

TYPE 1 DIABETES
what are the long term complications?

A

macrovascular - coronary artery disease, stroke, HTN

microvascular - peripheral neuropathy, retinopathy, nephropathy

192
Q

TYPE 1 DIABETES
why should insulin injection sites be rotated?

A

to prevent lipodystrophy

193
Q

TYPE 1 DIABETES
what are the pros and cons of insulin pumps?

A

pros - better blood glucose control, more flexibility eating and less injections

cons - difficulties learning how to use, blockages in infusion set, having it attached at all times, infection risk

194
Q

TYPE 1 DIABETES
how is hypoglycaemia treated?

A
  • rapid acting glucose + longer acting carb
  • if impaired consciousness use IV dextrose and IM glucagon
  • 10% dextrose IV
195
Q

DKA
what is the clinical presentation?

A

Polyuria
Polydipsia
Nausea and vomiting
Weight loss
Acetone smell to their breath
Dehydration and subsequent hypotension
Altered consciousness
Symptoms of an underlying trigger (i.e. sepsis)

196
Q

DKA
what is required to diagnose DKA?

A

Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)

197
Q

DKA
what are the principles of DKA management in children?

A
  • correct dehydration evenly over 48hrs
  • give an initial bolus followed by ongoing fluids
  • insulin should be delayed by 1-2hrs to reduce chance of cerebral oedema
  • 0.05-0.1 units/kg/hr of insulin
198
Q

DKA
what are the different classifications of DKA?

A

Mild - pH 7.2-7.29 or bicarb <15mmol/L, dehydration = 5%

moderate - pH 7.1-7.19 or bicarb <10mmol/L, dehydration = 7%

severe - pH <7.1 or bicarb <5mmol/L, dehydration = 10%

199
Q

DKA
what fluids are given to children not in shock?

A

initial bolus - 10ml/kg 0.9% NaCl over 1 hour

ongoing fluids - 0.9% NaCl with 20mmol KCl in each 500ml bag
1. calculate fluid deficit based on % dehydration
2. subtract initial 10ml/kg bolus from this
3. add maintenance fluids

200
Q

DKA
what are the complications?

A

cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia

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