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Endocrinology Flashcards

1
Q

Define Congenital Adrenal Hyperplasia (CAH).

A

Most common non-iatrogenic cause of low cortisol and MR secretion.

  • Incidence → 1 in 17,000 births
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2
Q

How many forms of CAH are there?

A
  • Multiple forms of CAH – 90% are a deficiency of 21-hydroxylase enzyme → autosomal recessive
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3
Q

What are the signs and symptoms of CAH?

A
  • Virilisation of external genetalia - more obvious in girls
    • Female infants → clitoromegaly, fusion of labia
    • Male infants → enlarged penis and scrotum pigmented - hard to spot
  • Addisonian Crisis - often the 1st sign in boys
    • Week 1 to 3 of age
    • Vomiting
    • Weight loss
    • Hypotonia
    • Circulatory collapse
  • Tall → occurs in 20% of “non-salt losers”
    • Presenting at puberty = smallest in class after being tallest
  • Excess androgens
    • Muscular build
    • Adult body odour
    • Pubic hair
    • Acne
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4
Q

What are the appropriate investigations for suspected CAH?

A
  • Initial - Ambiguous genetalia, no external gonads → USS
  • Confirmatory (CAH) → raised plasma 17a-hydroxyprogesterone - cannot do in a newborn → mother’s levels will obscure reading
    • Other confirming tests
      • Karyotyping
      • High urea (dehydrated)
      • Beta-hCG
  • Biochemical abnormalities → FBC, U&Es
    • Addisonian crisis → low sodium, high potassium
    • Metabolic acidosis → low bicarbonate
    • Hypoglycaemia → low glucose from low cortisol
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5
Q

What is the management of CAH?

A
  • Corrective surgery – for affected females on the external genetalia
    • Suggested girls are raised as girls → have ovaries and uterus
    • Definitive surgery often delayed until early puberty
  • Long-term management
    • Life-long glucocorticoids = Hydrocortisone → suppress ACTH levels (and hence testosterone)
    • Mineralocorticoids = Fludrocortisone → if there is salt loss
    • Monitoring
      • Growth
      • Skeletal maturity
      • Plasma androgens
      • 17a-hydroxyprogesterone levels
    • Additional hormone replacement at times of illness or surgery - i.e. double hydrocortisone
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6
Q

What is the management of an Addisonian crisis?

A
  • IV hydrocortisone
  • IV saline
  • IV dextrose
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7
Q

What are the signs of neonatal hypoglycaemia?

A

Jittery and Hypotonic baby

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8
Q

What are the risk factors for neonatal hypoglycaemia?

A
  • IUGR
  • Maternal DM
  • Prematurity
  • Hypothermia
  • Neonatal sepsis
  • Inborn errors of metabolism
  • Labetalol - pre-eclampsia
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9
Q

What are the signs and symptoms of diabetes in a child?

A
  • Early signs – often occur over a few weeks
    • Most common ‘classical triad’
      • Polydipsia
      • Polyuria
      • Weight loss
    • Less common
      • Secondary enuresis
      • Skin sepsis
      • Candida (and other infections)
    • Type-2 specific
      • Acanthosis nigricans - ‘tanning’ in skin fold = insulin resistance
      • Skin tags
      • PCOS
  • Hypoglycaemia - after insulin
    • Sweating
    • Pallor
    • CNS irritability
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10
Q

What are the signs and symptoms of DKA in a child?

A
  • Kussmaul breathing
  • Acetone breath
  • Vomiting
  • Dehydration
  • Abdominal pain
  • Hypovolaemic shock
  • Drowsiness
  • Coma and death
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11
Q

What are the signs of hypoglycaemia in a child?

A
  • After insulin
    • Sweating
    • Pallor
    • CNS irritability
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12
Q

What are the appropriate investigations for suspected diabetes mellitus in a child?

A
  • Symptoms = Fasting ≥7.0mmol/L OR Random ≥11.1mmol/L
  • No symptoms
    • Fasting ≥7.0mmol/L AND Random ≥11.1mmol/L
    • OGTT ≥11.1mmol>L
  • HbA1c >6.5% / >48mmol/mol
  • Whole blood fasting plasma glucose ≥6.1mmol/L
  • Impaired Glucose Tolerance
    • Fasting = <7.0 mmol/L
    • OGTT = 7.8-11.1 mmol/L
  • Impaired Fasting Glucose – only if fasted:
    • Fasting = 6.1-7.0 mmol/L
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13
Q

What are the apporpriate investigations for suspected hypoglycaemia in a child?

A
  • Blood glucose
  • Growth hormone
  • IGF-1
  • Cortisol
  • Insulin
  • C-peptide
  • Fatty acids
  • Ketones
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14
Q

What is the management of T1DM in a child?

A
  • Insulin
    • 3 types of insulin therapy
      • 1st line = Multiple Daily Injection Basal-Bolus - injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long-acting insulin analogue
      • 2nd line = Continuous SC Insulin Infusion (insulin pump) - regular or continuous amounts of insulin (usually rapid/short- acting insulin) → child must be older and in control of diabetes
      • One, Two or Three Insulin Injections Per Day - injections of short-acting insulin or rapid-acting insulin analogue mixed with intermediate-acting insulin
  • MDT management → paediatrician, PDSN (specialist nurse), psychologist, school, (GP)
  • Educational programme for parents and child
    • Basic pathophysiology of diabetes → body attacking its own pancreas → depleted ability to produce insulin
    • Insulin injection method and sites
      • Types of insulin
        • Long acting → Glargine, Determir
        • Short acting → Lispro, Glulisine, Aspart
      • Sites = antero-lateral thigh, buttocks, abdomen
        • Rotate sites frequently to avoid lipohypertrophy
      • Method = gently pinch up skin and inject at a 45-degree angle, not too deep (IM) nor shallow
    • Blood glucose prick monitoring
      • ≥5 capillary blood glucose a day
        • Fasting = 4-7mmol/L
        • After meals = 5-9
        • Driving = >5
      • Ongoing real-time continuous monitoring with alarms
      • HbA1c checked ≥4x per year
    • Healthy diet and exercise
      • Carbohydrate counting education from diagnosis and to family members (DAFNE)
      • 5 fruit and vegetables a day
      • Regular exercise (with insulin adjustment)
    • ‘Sick-day rules’ during illness - prevent DKA
    • Recognition of DKA and hypoglycaemia
      • DKA = Nausea/vomiting, Abdominal pain, Hyperventilation, Dehydration, Reduced consciousness
      • Hypoglycaemia = varies → Feeling ‘wobbly’ or generally unwell → manage with sugary food
      • Check blood ketones when ill or hyperglycaemic
  • Annual monitoring - from 12yo
    • Diabetic retinopathy
    • Diabetic nephropathy
    • Hypertension
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15
Q

What are the indications for ongoing real-time continuous monitoring with alarms in children?

A
  • Frequent severe hypoglycaemia
  • Impaired hypoglycaemic awareness
  • Inability to recognise/relay symptoms of hypoglycaemia (i.e. cognitive disability)
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16
Q

What are the causes of DKA?

A
  • Anything to raise the bodies need for insulin
    • Discontinuation / Not enough insulin
      • Anorexic T1DM that want to lose weight
    • Drugs → steroids, thiazides, SGLT-2 inhibitors
    • Physiological stress → pregnancy, trauma, surgery
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17
Q

What are the appropriate investigations for suspected DKA?

A
  • Blood gases
  • Blood glucose
  • Plasma osmolarity → will be hyper-osmolar
    • Like in HHS but is much higher in HHS
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18
Q

What is the management of hypoglycaemia?

A
  • Treating this depends upon the patient’s consciousness
    • Oral glucose - e.g. Coca-Cola → banana
    • Glucose gel to gums / IM glucagon
    • IV glucose - dextrose - remember dextrose is hypertonic
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19
Q

How is diabetes management complicated in adolescence?

A
  • Teenagers are more resistant to treatment → find out they don’t have to obey parents
  • Interference:
    • Biological factors
      • Insulin resistance secondary to growth and sex hormone secretion
      • Growth and pubertal delay if diabetes control is poor
    • Psychological factors
      • Reduced self-esteem (i.e. impaired body image)
    • Social factors:
      • Different from peer group
      • Hypoglycaemia (emphasise differences)
      • Increased risk from alcohol, smoking, drugs
      • Vocation plans → can’t be a pilot
      • Separation from parents more complex
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20
Q

What are the signs and symptoms of HHS?

A
  • Weakness
  • Leg cramps
  • Visual disturbances
  • N&V (less than in DKA)
  • Massive dehydration
    • Dry membranes
    • Confusion
    • Lethargy
  • Focal neurological symptoms → seizures in up to 25% → coma in up to 10%
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21
Q

What are the appropriate investigations for suspected HHS?

A
  • Bloods/ABG → no hyperketonaemia, no acidosis
  • Serum osmolarity = >320mOsmol/kg (normal 275-295)
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22
Q

What is the appropriate management of T2DM in a child?

A
  1. Diet & exercise
  2. Oral monotherapy = metformin
  3. Oral combination
    1. Sulphonylurea – non-obese T2DM
    2. a-glucosidase inhibitor – for post-prandial hyperglycaemia
  4. Oral + Injectable incretin mimetics
  5. Oral + Low-dose Insulin
  6. Insulin
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23
Q

Define DKA.

A
  • Diagnosis
    • Diabetes = BM > 11.1mmol/L
    • Ketones = >3
    • Acidosis = pH <7.3
  • DKA definition
    • Metabolic acidosis → acidosis + bicarbonate of <15mmol/L
    • OR
    • Metabolic acidosis → pH <7.3 + ketones >3.0mmol/L
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24
Q

What is the management of DKA?

A
  • Emergency Management
    • ABCDE
    • Emergency fluid resuscitation
      • Shocked = 20mL/kg bolus (over 15 minutes) → 10mL/kg bolus if required (max 40mL/kg)
      • Not shocked = 10mL/kg bolus (over 60 minutes)
    • Investigations (i.e. blood glucose, FBC, U&Es, blood gas, ketones) + Full clinical assessment (inc. weight, GCS)
  • Fluid management
    • Deficit = deficit x weight x 10 → replace over 48 hours
      • Mild DKA = pH <7.3 → 5% fluid deficit
      • Moderate DKA = pH <7.2 → 7% fluid deficit
      • Severe DKA = pH <7.1 → 10% fluid deficit
    • Maintenance requirement = 4-2-1 method
  • Insulin / dextrose therapy
    • After 1-2 hours of IV fluid replacement
      • Insulin Dose = IV 0.05-0.1 units/kg/hour
        • Start dextrose when <14mmol/L → SC insulin → oral fluids if child starts to resolve
        • Monitor with ECG to identify hypokalaemia
  • Monitoring during therapy – every hour or 30 minutes if severe DKA or child <2yo
    • Hourly → capillary glucose, vital signs, fluid balance, GCS, ± ECG
    • Every 4 hours → glucose, U&Es, blood gas, beta-hydroxybutyrate
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25
Q

What are the complications of DKA?

A
  • Cerebral oedema - 25% mortality
  • Hypokalaemia
  • Aspiration pneumonia
  • Inadequate resuscitation
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26
Q

What are the signs and symptoms of cerebral oedema?

A
  • Cushing’s triad of ICP
    • Bradycardia
    • Hypertension
    • Irregular breathing
  • Headache
  • Agitation / Irritability
  • Other signs of ICP
    • Low GCS
    • Oculomotor (III) palsies
    • Pupillary inequality or dilatation
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27
Q

What is the management of cerebral oedema?

A
  • Mannitol or hypertonic saline
  • Restrict fluid intake
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28
Q

What is the management of hypokalaemia in the context of diabetes/DKA?

A

Stop insulin → causes K+ excretion

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29
Q

What is the most common cause of growth disorder in boys?

A

Constitutional Delay of Growth and Puberty

30
Q

What constitutes faltering growth warranting referral?

A
  • If ≥75th centile → drops ≥3%
  • 25th-75th centile → drops by ≥2%
  • <25th centile → drops by ≥1%
31
Q

Define Delayed Puberty.

A
  • Absence of pubertal development
    • Males
      • No testicular development (volume ≤4mL) by age 14 years
      • Females
        • No breast development by age 13 years OR
        • No periods by age 15 years
32
Q

What are the signs and symptoms of constitutional delay of growth and puberty?

A
  • Low bone age
  • No puberty signs
  • No organic causes
  • FHx → M > F - usually FHx of same delay in parent of same sex
33
Q

What are the causes of delayed puberty?

A
  • Constitutional delay of growth and puberty
  • Chronic disease
  • Malnutrition
  • Psychiatric
    • Excessive exercise
    • Anorexia nervosa
    • Depression
  • Hypogonadotrophic hypogonadism - low LH and FSH
    • Hypothalamo-pituitary disorders → panhypopituitarism, intercranial tumours
    • Kallmann’s syndrome - LHRH deficiency and anosmia
    • Prader-Willi syndrome
    • Hypothyroidism (acquired)
  • Hypergonadotrophic hypogonadism - high LH and FSH
    • Congenital → cryptorchidism, Klienfelter’s syndrome, Turner’s syndrome
    • Acquired → testicular torsion, chemotherapy, infection, trauma, autoimmune
34
Q

What are the appropriate investigations for delayed puberty?

A
  • Initial examination
    • Charting → height and weight plots, mid-parental height - note dysmorphic features
    • Prader’s orchidometer (see picture) - for boys
    • Tanner’s staging - for girls
  • Bloods
    • LH and FSH levels (GnRH stimulation given if <12yo) → gonadotrophin-dependant vs independent
    • TSH
    • Prolactin
    • Testosterone
  • Imaging
    • Bone age (from wrist X-ray)
    • MRI brain
  • Karyotyping
35
Q

What is the management of delayed puberty?

A
  • CDGP = most do not need treatment → fantastic prognosis]:
    • 1st line = reassure and offer observation
    • 2nd line = short course sex hormone therapy
      • Boys → short course IM testosterone (every 6 weeks for 6 months)
      • Girls → transdermal oestrogen (6 months) → cyclical progesterone once established
  • Primary testicular / ovarian failure = Pubertal induction → regular hormone replacement
    • Boys = regular testosterone injections
    • Girls = gradual oestrogen replacement (gradual to avoid premature fusion of epiphyses / overdeveloped breasts)
  • Psychiatry input to address psychosocial concerns
36
Q

What is the difference between early normal puberty and precocious puberty?

A
  • Early normal puberty
    • Girls = 8 < age ≤ 10
    • Boys = 9 < age ≤ 12
  • Precocious puberty
    • Girls = age <8yo
    • Boys = age <9yo
37
Q

How is puberty defined?

A
  • Girls = Breast development - Tanner’s 5 breast development
    • Stage 1 = flat
    • Stage 2 = buds appear, breast and nipple raised, fat forms, areola enlarges
    • Stage 3 = breasts grow larger - conical → rounder shape
    • Stage 4 = nipple and areola raise above mound menstruation within 2 years of this stage
    • Stage 5 = mature adult breast is rounded, and only nipple is raised
    • Order of Onset in Girls = Boobs, Pubes, Grow, Flow
  • Boys = Testicular development >4mL - Prader’s orchidometer
38
Q

What is Gonadotrophin-dependent Precocious Puberty (GDPP)?

A

Premature activation of HPG axis

  • Idiopathic → no cause found in 80% girls and 40% boys
    • Can be linked with CNS abnormalities - tumours, trauma, central congenital disorders
39
Q

What is Gonadotrophin-independent Precocious Puberty (GIPP)?

A

Early puberty from increased gonadal activation independent of HPG - 20% of PP

  • Ovarian → follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma
  • Testicular → Leydig cell tumour, testotoxicosis (defective LH-R function; familial)
  • Adrenal → CAH, Cushing’s syndrome
  • Tumours → b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals
  • McCune-Albright syndrome → multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly
    • S/S: polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts
  • Exogenous hormones → COCP, testosterone gels
40
Q

What is Benign Isolated Precocious Puberty (GIPP)?

A

Generally are self-limiting → no organic problem

  • Premature thelarche (isolated breast development before 8yo) - normally between 6m and 2yo
    • May occur in those <3yo then spontaneously regresses - due to maternal oestrogen early on
  • Premature pubarche/adrenarche (isolated pubic hair development before 8yo (girls) or 9yo (boys))
    • Due to early adrenal androgen secretion in middle childhood
    • More common in Asian or Afro-Caribbean
  • Premature menarche (isolated vaginal bleeding before 8yo)
41
Q

What are the features of premature Thelarche?

A
  • Absence of other pubertal signs
  • Normal growth
  • Normal USS of uterus
  • Rarely progress past Tanner stage 3
42
Q

What is the management of precocious puberty?

A
  • Refer to paediatric endocrinologist
  • GDPP no underlying pathology / Benign cause = often no treatment is required
  • Gonadotrophin-Dependent Precocious Puberty (excluding neoplasms)
    • GnRH agonist + GH therapy
      • GnRH agonists overstimulate pituitary → desensitisation → arrest puberty
      • GH therapy used as GnRH agonists can stunt growth
    • GnRH agonist + Anti-androgen (cryproterone)
      • Supresses peripheral androgen action
  • Gonadotrophin-Independent Precocious Puberty (excluding neoplasms)
    • CAH = Hydrocortisone + GnRH agonist
    • McCune Albright or Testotoxicosis
      • 1st = Ketoconazole or cyproterone
      • 2nd = Aromatase inhibitors
43
Q

What are the causes of congenital hypothyroidism?

A
  • Thyroid gland defects (75%)
    • Missing, ectopic or poorly developed thyroid - not inherited
  • Disorder of thyroid hormone metabolism (10%)
    • TSH unresponsive / defects in TG structure - inherited
  • Hypothalamic or pituitary dysfunction (5%)
    • Tumours, ischemic damage, congenital defects
  • Transient hypothyroidism (10%)
    • Maternal medication (carbimazole), maternal ABs (i.e. Hashimoto’s)
44
Q

What are the signs and symptoms of hypothyroidism?
include signs specific to congenital hypothyroidism.

A
  • Growth failure
  • Excess weight gain
  • Short stature
  • Feeding difficulties
  • Lethargy
  • Constipation
  • Large fontanelles
  • Myxoedema
  • Nasal obstruction
  • Low temperature
  • Jaundice
  • Hypotonia
  • Pleural effusion
  • Oedema
  • Goitre
  • Congenital defects
  • Unique symptoms
    • Coarse features
    • Macroglossia
    • Umbilical hernia
45
Q

What are the appropriate investigations of hypothyroidism?

A
  • High TSH
  • Low T4
  • Measure thyroid autoantibodies
  • US or radionucleotide scan
46
Q

What is the management of hypothyroidism?

A
  • Thyroxine hormone replaced with levothyroxine OD
    • Titrate dose to TFTs + regular monitoring
    • Early detection and replacement is key in congenital hypothyroidism
  • Monitor growth
  • Milestones
  • Development
47
Q

How can a mother’s health cause neonatal hyperthyroidism

A
  • Mother has Grave’s disease
    • Circulating TSHr-AB cross the placenta → bind to TSHr → stimulate foetal thyroxine production
  • 1-2% of new-borns are hyperthyroid
48
Q

What are the signs and symptoms of foetal and neonatal hyperthyroidism?

A
  • Foetus
    • High CTG trace
    • Goitre on USS
  • Neonate (<2w)
    • Irritability
    • Weight loss
    • Tachycardia
    • Heart failure
    • Diarrhoea
    • Exophthalmos
49
Q

What is the management of childhood hyperthyroidism?

A
  • Medical management (2 years) = Carbimazole or Propylthiouracil
    • Both thionamides are associated with a risk of neutropoenia
    • Safety net to seek medical attention and a blood count if sore throat or fever on treatment
    • Beta-blockers may be considered for symptomatic relief
  • Other management:
    • Radioiodine treatment
    • Surgery
50
Q

What is the classification of obesity in children - not via BMI?

A
  • Severely Obese = 99th centile
  • Obese = >95th centile
  • Overweight = 85-94th centile
51
Q

What are the risk factors for childhood obesity?

A
  • Low socioeconomic status
  • Poor diet
  • Genetics
  • Little exercise
52
Q

What are the appropriate investigations for suspected obesity?

A
  • Growth chart plotting – BMI percentile chart, adjusted to age and gender
  • Nutritional assessment – BMI, triceps skinfold thickness
  • Bloods – cholesterol, triglyceride levels, endocrine assays for conditions e.g. adrenal disease
  • Urine – glucosuria → T2DM
  • Radiology – USS/CT/MRI head for specific conditions or syndromes
53
Q

What is the management of childhood obesity?

A
  • Exclude underlying medical condition
  • Conservative
    • Self-esteem and confidence building
    • Address lifestyle (i.e. food diary and locate where they may eat too much)
  • Therapeutic aims
    • Reduce excess weight whilst not compromising growth needs
    • Dietary counselling with vitamin & micronutrient supplementation
    • Behaviour modification (adjust approach dependent on age group)
    • Stepwise physical activity programme – increase activity & decrease inactivity
    • Adherence to plan needs strong support from child and family
    • Fat intake <30% of total calories
  • Surgical – not recommended in young people
54
Q

What are the complications of childhood obesity?

A
  • Psychosocial
    • Bullying
    • Discrimination
    • Isolation
  • Growth
    • Advanced bone age
    • Increased height
    • Early menarche
  • Respiratory system
    • Sleep apnoea
    • Pickwickian syndrome - obesity hyperventilation syndrome
  • Orthopaedic
    • Slipped capital femoral epiphysis
    • Blount disease / Varus bowing of tibia
  • Metabolic syndrome
    • Insulin resistance
    • Atherogenic dyslipidaemia from inc. TG and decreased HDL and HTN
  • Hepatobiliary
    • Hepatis steatosis
    • Gallstones
55
Q

What is Rickets?

A

Impaired skeletal growth through inadequate mineralisation of bone laid down at the epiphyseal growth plates.

56
Q

What are the causes of Rickets?

A
  • Calcium deficiency
    • Dietary
    • Malabsorption
  • Vitamin D defects
    • Deficiency – diet, malabsorption, lack of sunlight, iatrogenic (drug induced – phenytoin therapy)
    • Metabolic defect – 1α hydroxylase deficiency, liver disease, renal disease
    • Defect in action – HVDRR (Hereditary Vitamin D Receptor Resistant) Rickets
  • Phosphate deficiency
    • Dietary
    • Renal tubular phosphate loss – hypophosphatemic rickets (X-linked, AR or AD)
    • Acquired hypophosphatemic rickets – Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs
57
Q

What are the signs and symptoms of Rickets?

A
  • Growth delay or arrest
  • Bone pain
  • Fractures
  • Skeletal
    • Swelling wrists/costochondral junctions (rickets rosary)
    • Bowed long bones
    • Frontal bossing
58
Q

What are the appropriate investigations for suspected rickets?

A
  • X-ray:
    • Thickened and widened epiphysis
    • Cupping metaphysis
    • Bowing diaphysis
  • Biochemical:
    • Reduced Ca2+ and PO42- → Ca2+ x PO42- = <2.4 = diagnostic
    • Raised ALP
59
Q

What is the management of rickets?

A
  • Prevention
    • Daily VitD in formula/multivitamin
    • Pregnant/lactating women receive 400iu/day
  • Dietary sources – fatty fish (herring, mackerel, salmon, tuna), egg yolk, fortified foods, shop bought milk, cereals
  • Correct low vitamin D levels with increased intake
    • Calcium supplements
    • Oral vitamin D2 (ergocalciferol) or oral vitamin D3 (cholecalciferol)
  • Periodic measurement of serum calcium, phosphate, ALP, urine calcium: creatinine ratio
60
Q

Define Skeletal Dysplasia.

A

>350 disorders leading to various degrees of dwarfism

  • Most commonly due to
    • Achondroplasia
      • S/S - arms and legs short, normal length thorax
    • Hypochondroplasia
      • S/S - small stature, micromelia (small extremities), large head
61
Q

Define Dwarfism.

A

Height less than 2 S.D. below the mean.

62
Q

What are the signs and symptoms of achondroplasia?

A
  • Short arms and legs short
  • Normal length thorax
63
Q

What are the signs and symptoms of hypochondroplasia?

A
  • Small stature
  • Micromelia (small extremities)
  • Large head
64
Q

What are the causes of achondroplasia and hypochondroplasia?

A
  • FGFR3 gene
    • Autosomal dominant defects in Fibroblast Growth Factor Receptor 3 (FGFR3) gene
    • FGFR3 gene causes severe bone shortening through constitutively active receptors
65
Q

What is the cause of stature change in Turner’s and Klinefelter’s?

A
  • SHOX (Short stature Homeobox) gene - X chromosome
    • Turner’s (XO) = 1 less SHOX = short stature
    • Klienfelter’s (XXXY) >2 SHOX genes = tall stature
  • RF = advancing parental age at time of conception
66
Q

What is osteogenesis imperfecta?

A

AKA: Brittle Bone

  • 7 forms - Type 1 is the most common = abnormal pro-alpha 1 or 2 collagen polypeptides
  • S/S
    • Blue sclera
    • Short stature
    • Loose joints
    • Hearing loss
    • Breathing problems
67
Q

What are the signs and symptoms of achondroplasia?

A
  • Short stature with shortening of limbs
  • Hydrocephalus
  • Large head
  • Frontal bossing
  • Depression of nasal bridge
  • Short, broad hands
  • Marked lumbar lordosis
  • ‘Trident Hands’
68
Q

What are the appropriate investigations for suspected achondroplasia?

A
  • Prenatal scans → apparent from 22w GA
  • Clinical diagnosis
  • X-ray
    • Metaphyseal irregularity (inverted V metaphysis = ‘chevron deformity’
    • Flaring in long bones, late-appearing irregular epiphyses
  • Molecular analysis confirmation
69
Q

What is the management of achondroplasia?

A
  • Condition specific centile charts
  • Regular follow-up (complications)
    • Gross motor skill delay
    • Kyphosis
    • Early osteoarthritis
    • Risks from hydrocephalus
    • Obesity
    • ENT issues
70
Q

What are the appropriate investigations for suspected precocious puberty?

A
  • GnRH stimulation test = Gold-standard
    • FSH, LH low = GIPP
    • FSH, LH high = GDPP
  • Wrist X-Ray for Bone age
  • General hormone profile → basal LH/FSH, serum testosterone and oestrogen
  • Urinary 17-OH progesterone - for suspected CAH
  • Females → Pelvic USS - usually not of concern
    • Premature onset of normal puberty → multicystic ovaries and enlarging uterus
    • Rule out gonadal tumour, cysts
  • Males → Examination of testes, MRI (intracranial tumours), GnRH-stimulated LH/FSH - commonly has an organic cause
    • Prader’s orchidometer measurement and examination of testes
      • Bilateral enlargement → GDPP (intercranial lesion → i.e. optic glioma in NF1)
      • Unilateral enlargement → gonadal tumour
      • Small testes → tumour or CAH

a Paediatrics by themes (26 decks)

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