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A TO REVISE - PHASE 3A > PAEDS GENETICS/ENDOCRINE TO DO > Flashcards

PAEDS GENETICS/ENDOCRINE TO DO Flashcards

1
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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2
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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3
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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4
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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5
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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6
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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7
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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8
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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9
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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10
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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11
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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12
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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13
Q

FRAGILE X SYNDROME
What is associated with fragile X syndrome?

A
  • Autism (up to 30%)
  • Seizures
  • ADHD
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14
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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15
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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16
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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17
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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18
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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19
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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20
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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21
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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22
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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23
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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24
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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25
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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26
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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27
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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28
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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29
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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30
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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31
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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32
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
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33
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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34
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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35
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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36
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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37
Q

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

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
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38
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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39
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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40
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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41
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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42
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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43
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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44
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
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45
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

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46
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
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47
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)

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48
Q

PRECOCIOUS PUBERTY
What is precocious puberty in females?

A
  • Development of secondary sexual characteristics (thelarche) <8y
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49
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
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50
Q

PRECOCIOUS PUBERTY
What is precocious puberty in males?

A
  • Development of secondary sexual characteristics <9y
  • Less common, more worrying
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51
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
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52
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
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53
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
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54
Q

CAH
What is congenital adrenal hyperplasia (CAH)?

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
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55
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
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56
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)
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57
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
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58
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

59
Q

CAH
what is a clue in exams that the diagnosis is CAH?

A

skin hyperpigmentation

caused by anterior pituitary producing more ACTH. A by-product of this is melanocyte stimulating hormone which causes more melanin.

60
Q

CAH
What is a critical complication of CAH?

A
  • Male salt-losers present in salt-losing crisis shortly after birth
61
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)
62
Q

CAH
what is the presentation of a salt-losing crisis?

A

hyponatraemia
hyperkalaemia
metabolic acidosis

63
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
64
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
65
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
66
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

67
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
68
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)
69
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
70
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

71
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)

72
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)
73
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
74
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
75
Q

PICA
what health problems can be caused?

A
  • iron deficiency anaemia
  • lead poisoning
  • constipation or diarrhoea
  • infections
  • intestinal obstruction
  • mouth or teeth injuries
76
Q

PICA
what are the causes?

A
  • developmental problems e.g. autism
  • mental health problems e.g. OCD, schizophrenia
  • malnutrition or hunger
  • stress
77
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

78
Q

PICA
what are the investigations?

A
  • blood tests - anaemia, lead levels
  • stool tests - parasites
  • x-rays
79
Q

CRYPTORCHIDISM
What are the 3 types of cryptorchidism?

A
  • Retractile (normal variant in prepubescent boys)
  • Palpable
  • Impalpable
80
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
81
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
82
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
83
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
84
Q

KALLMAN SYNDROME
what is it?

A

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

85
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
86
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

87
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

88
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the different types?

A
  • complete AIS
  • partial AIS
  • true hermaphroditism
89
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
90
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
91
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
92
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

93
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
94
Q

ANDROGEN INSENSITIVITY SYNDROME
how does it typically present?

A
  • present in infancy with an inguinal hernia
  • present at puberty with primary amenorrhoea
95
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
96
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)
97
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

98
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

99
Q

PRECOCIOUS PUBERTY
What are the causes in females?

A

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

100
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)

101
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

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

102
Q

CAH
What is a major risk factor?

A

Consanguineous parents

103
Q

HYPOGONADISM
Name the 3 types of hypogonadism?

A

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

104
Q

GONADOTROPIN DEFICIENCY
What is Hypergonadotropic hypogonadism?

A

Primary gonadal failure - Testes or ovarian failure

105
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

106
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

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

107
Q

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

A

FSH/LH = high
Oestrogen/testosterone = low

108
Q

GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?

A

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

109
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

110
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

111
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
112
Q

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

A

FSH/LH = low
Oestrogen/testosterone = low

113
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

114
Q

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

A

neurofibromatosis
undergone radiation therapy

115
Q

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

A

glioma

116
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
117
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
118
Q

HYPOTHALAMIC TUMOURS
what is the management?

A
  • surgery
  • radiation
  • chemotherapy
  • steroids to treat brain swelling
  • hormone replacement/imbalance corrected
119
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

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

120
Q

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

A

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

121
Q

CAH
How does salt-losing crisis present?

A

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

122
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

123
Q

OBESITY
when does NICE recommend intervention?

A

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

124
Q

OBESITY
what is the most common cause?

A

lifestyle factors

125
Q

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

A
  • asian children
  • female
  • tall
126
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
127
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
128
Q

UNDESCENDED TESTES
what are the risks of undescended testes?

A

higher chance of testicular torsion, infertility and testicular cancer

129
Q

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

A

diabetic ketoacidosis

130
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
131
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
132
Q

TYPE 1 DIABETES
what is the long term management?

A
  • SC insulin
  • monitoring carbohydrate intake
  • monitoring for complications
133
Q

TYPE 1 DIABETES
what are the short term complications?

A
  • hypoglycaemia
  • hyperglycaemia and DKA
134
Q

TYPE 1 DIABETES
what are the long term complications?

A

macrovascular - coronary artery disease, stroke, HTN

microvascular - peripheral neuropathy, retinopathy, nephropathy

135
Q

TYPE 1 DIABETES
why should insulin injection sites be rotated?

A

to prevent lipodystrophy

136
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

137
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
138
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)

139
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)

140
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
141
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%

142
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

143
Q

DKA
what are the complications?

A

cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia

A TO REVISE - PHASE 3A (16 decks)

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