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Paeds > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is precocious puberty defined as?

A

Girls = breast development age <8yo
Boys = testicular development >4mL, age <9yo

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2
Q

What staging system is used for female breast development>

A

Tanner’s 5 breast development stages

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3
Q

What staging system is used for males testicular development?

A

Prader’s orchidometer

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4
Q

thelarche

A

breast development

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5
Q

Causes of precocious puberty

A

Gonadotrophin-Dependant Precocious Puberty [GDPP]
Gonadotrophin-Independent Precocious Puberty [GIPP] – 20% of PP
Benign isolated precocious puberty – these are all generally self-limiting

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6
Q

What causes gonadotrophin-dependent precocious puberty (GDPP)? Give examples

A

Premature activation of HPG axis

Idiopathic (no cause found in 80% girls and 40% boys)
CNS abnormalities (tumours, trauma, central congenital disorders

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7
Q

What causes gonadotrophin-independent precocious puberty (GIPP)? Give examples

A

Early puberty from increased gonadal activation independent of HPG

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

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8
Q

CNS abnormalities that can cause Gonadotrophin-Dependant Precocious Puberty [GDPP]

A

tumours, trauma, central congenital disorders

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9
Q

Most common cause of Gonadotrophin-Dependant Precocious Puberty [GDPP]

A

Idiopathic (no cause found in 80% girls and 40% boys)

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10
Q

Ovarian abnormalities that can Gonadotrophin-Independent Precocious Puberty [GIPP]

A

follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma

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11
Q

Testicular abnormalities that can cause Gonadotrophin-Independent Precocious Puberty [GIPP]

A

Leydig cell tumour, testotoxicosis (defective LH-R function; a familial GIPP)

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12
Q

Adrenal causes of Gonadotrophin-Independent Precocious Puberty [GIPP]

A

CAH, Cushing’s syndrome

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13
Q

Tumours that can cause Gonadotrophin-Independent Precocious Puberty [GIPP]

A

b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals

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14
Q

What is McCune-albright syndrome? What can it cause?

A

a multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly

Gonadotrophin-Independent Precocious Puberty [GIPP]

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15
Q

Signs + Sx of McCune Albright Syndrome

A

polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts

NOTE: Cause of Gonadotrophin-Independent Precocious Puberty [GIPP]

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16
Q

Causes of benign isolated precocious puberty

A

Premature thelarche [isolated breast development before 8yo; normally between 6m and 2yo

Premature pubarche/adrenarche [isolated pubic hair development before 8yo (girls) or 9yo (boys)]:

Premature menarche [isolated vaginal bleeding before 8yo]

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17
Q

Investigations for precocious puberty

A

GnRH stimulation test (Gold Standard)
FSH, LH low = GIPP
FSH, LH high = GDPP
Wrist XR (non-dominant) for skeletal age
General hormone profile  basal LH/FSH, serum testosterone and oestrogen
Urinary 17-OH progesterone if CAH suspected

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18
Q

Gold standard investigation for precocious puberty

A

GnRH stimulation test (Gold Standard)
FSH, LH low = GIPP
FSH, LH high = GDPP

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19
Q

What investigation done if CAH suspected?

A

Urinary 17-OH progesterone if CAH suspected

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20
Q

What additional investigation may be done in precocious puberty in females?

A

Pelvic USS

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21
Q

Which gender usually has an organic cause for precocious puberty?

A

Males - most likely has an organic cause
Females - not normally of concern

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22
Q

What additional investigation would be done in a male with precocious puberty?

A

Prader’s orchidometer measurement and examination of testes

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23
Q

Findings on testicular examination in someone with precocious puberty

A

Bilateral enlargement → GDPP (intracranial lesion –> MRI)
Unilateral enlargement→ gonadal tumour
Small testes → tumour or CAH (adrenal cause)

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24
Q

Bilateral testicular enlargement and precocious puberty

A

Bilateral enlargement → GDPP (intracranial lesion –> MRI)

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25
Q

Unilateral testicular enlargement and precocious puberty

A

Unilateral enlargement→ gonadal tumour

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26
Q

small testes and precocious puberty

A

tumour or CAH (adrenal cause)

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27
Q

Management of all types of precocious puberty

A

REFER TO PAEDIATRIC ENDOCRINOLOGIST

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28
Q

Management of GDPP with no underlying pathology

A

often no treatment is required

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29
Q

Management of GDPP

A

GnRH agonist (e.g. leuprolide) + GH therapy
GnRH agonist + cryproterone (anti-androgen)

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30
Q

Management of GIPP

A

McCune Albright or Testotoxicosis: 1st: ketoconazole or cyproterone; 2nd: aromatase inhibitors
CAH: hydrocortisone + GnRH agonist

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31
Q

Management of McCune Albright (Type of GIPP)

A

1st: ketoconazole or cyproterone; 2nd: aromatase inhibitors

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32
Q

Management of Testotoxicosis (Type of GIPP)

A

1st: ketoconazole or cyproterone; 2nd: aromatase inhibitors

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33
Q

Management of CAH (Type of GIPP)

A

CAH: hydrocortisone + GnRH agonist

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34
Q

What is the most common non-iatrogenic cause of low cortisol?

A

Congenital adrenal hyperplasia

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35
Q

What enzyme is deficient in 90% of patients with CAH?

A

21-hydroxylase enzyme

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36
Q

What genetic inheritance is seen in CAH?

A

Autosomal recessive

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37
Q

Presentation of CAH

A

Virilisation of external genetalia
Female infants –> clitoromegaly, fusion of labia
Male infants –> enlarged penis and scrotum pigmented [much harder to see]

Salt-losing crisis [often the 1st sign in boys]
Week 1 to 3 of age – more common in boys (in girls, virilisation is noted early and CAH treated)

Vomiting, WL, hypotonia, circulatory collapse

Tall stature

Excess androgens –> muscular build, adult body odour, pubic hair, acne

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38
Q

What is often the 1st sign of CAH in boys?

A

Salt losing crisis

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39
Q

What is often the 1st sign of CAH in girls?

A

Virilisation of external genitalia

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40
Q

Is CAH often identified earlier in males or females?

A

Females, virilisation is noted early and CAH treated

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41
Q

How does virilisation of external genitalia present in females?

A

clitoromegaly, fusion of labia

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42
Q

How does virilisation of external genitalia present in males?

A

enlarged penis and scrotum pigmented [much harder to see]

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43
Q

Investigations in CAH

A

Initial (ambiguous genitalia, no external gonads) –> USS [examine internal genitalia]

Confirmatory (CAH) –> raised plasma 17a-hydroxyprogesterone (cannot do in a newborn)

Biochemical abnormalities [FBC]:
Salt-losing crisis –> low sodium, high potassium
Metabolic acidosis –> low bicarbonate
Hypoglycaemia –> low glucose from low cortisol

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44
Q

Initial investigation for CAH

A

Initial (ambiguous genitalia, no external gonads) –> USS [examine internal genitalia]

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45
Q

Confirmatory investigation of CAH

A

Confirmatory (CAH) –> raised plasma 17a-hydroxyprogesterone (cannot do in a newborn)

46
Q

Biochemical abnormalities in CAH

A

Salt-losing crisis –> low sodium, high potassium
Metabolic acidosis –> low bicarbonate
Hypoglycaemia –> low glucose from low cortisol

47
Q

What causes the low sodium, high potassium picture in CAH?

A

No aldosterone

48
Q

What test in CAH can you not do in a newborn? What test to do instead?

A

raised plasma 17a-hydroxyprogesterone

Do USS [examine internal genitalia] instead

49
Q

Table showing presentations of adrenal insufficiency

A
50
Q

Management of CAH

A

Corrective surgery – for affected females on the external genitalia

Long-term management:
Life-long glucocorticoids (hydrocortisone) to suppress ACTH levels (and hence testosterone)
Mineralocorticoids (fludrocortisone) if there is salt loss

Salt-losing crisis –> IV hydrocortisone, IV saline, IV dextrose

51
Q

Who is corrective surgery offered to in CAH?

A

affected females on the external genitalia

NOTE: Girls are raised as girls (they have a uterus and ovaries)
Definitive surgery often delayed until early puberty

52
Q

What is the long term management of CAH

A

Life-long glucocorticoids (hydrocortisone) to suppress ACTH levels (and hence testosterone)
Mineralocorticoids (fludrocortisone) if there is salt loss

53
Q

Sick day rules for management of CAH

A

Double hydrocortisone

54
Q

How is salt losing crisis managed in CAH?

A

IV hydrocortisone, IV saline, IV dextrose

55
Q

What is androgen insensitivity syndrome?

A

Delayed puberty in a ‘girl’ with bilateral groin swellings are undescended testicles

56
Q

What are the bilateral groin swellings in androgen insensitivity?

A

undescended testicles

57
Q

Genotype and phenotype in androgen insensitivity syndrome

A

genotype = XY; phenotype = XX

58
Q

Two types of androgen insensitivity syndrome

A

Complete androgen insensitivity syndrome (CAIS)
Partial androgen insensitivity syndrome (PAIS)

59
Q

How does complete androgen insensitivity syndrome (CAIS) present?

A

testosterone has no effect; genitals are entirely female

60
Q

How does partial androgen insensitivity syndrome (PAIS) present?

A

testosterone has some effect; genitals are often more ambiguous

61
Q

Presentation of androgen insensitivity syndrome

A

Ambiguous genitalia from birth
(CAIS will look more like female genitalia; PAIS may vary)
Undescended testicles (bilateral groin swelling)

Often diagnosed at puberty:
Girl with CAIS will develop breasts, may be slightly taller than usual
Not have periods
Little/no pubic hair

62
Q

Investigations for androgen insensitivity syndrome

A

Examination: abdomen, genitals
Bloods: oestrogen/progesterone, testosterone
Karyotype

63
Q

Management of androgen insensitivity syndrome

A

MDT needed
Counselling

Surgery
E.g. removing undescended testicles; vaginal dilatation
E.g. breast reduction surgery

Hormone replacement
E.g. encouraging puberty, preventing menopausal Sx and osteoporosis (if testicles removed)

64
Q

How does GH deficiency present?

A

Short stature
Poor growth
Absent growth spurt / delayed puberty

65
Q

Investigations of GH deficiency

A

Examination (plot growth chart)
Bloods: TFTs, IGF1, baseline pituitary hormones
GH provocation test (e.g. insulin, glucagon, arginine)
Wrist x-ray (bone maturation / age)

66
Q

1st line investigation for GH deficiency

A

serum IGF-1

67
Q

Confirmatory investigation for GH deficiency

A

GH provocation test

68
Q

Management of GH deficiency

A

GH replacement therapy

69
Q

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)

70
Q

Most common cause of congenital hypothyroidism

A

Thyroid gland defects (75%) – missing, ectopic or poorly developed thyroid, not inherited

71
Q

Most common inherited cause of congenital hypothyroidism

A

Disorder of thyroid hormone metabolism (10%) – TSH unresponsive / defects in TG structure, inherited

72
Q

What maternal medication can cause transient hypothyroidism?

A

Carbimazole

73
Q

Presentation for congenital hypothyroidism

A

Feeding difficulties, lethargy, constipation

Large fontanelles, myxoedema, nasal obstruction, low temperature, jaundice, hypotonia, pleural effusion, short stature, oedema, ± goitre ± congenital defects

Unique symptoms –> coarse features, macroglossia, umbilical hernia

74
Q

Unique symptoms of congenital hypothyroidism

A

coarse features, macroglossia, umbilical hernia

75
Q

coarse features, macroglossia, umbilical hernia

A

Congenital hypothyroidism

76
Q

Investigations for congenital hypothyroidism

A

High TSH and low T4
Measure thyroid autoantibodies ± US or radionucleotide scan

77
Q

Management of congenital hypothyroidism

A

Early detection + replacement:
Thyroxine hormone replaced with levothyroxine OD, titrate dose to TFTs + regular monitoring
Monitor growth, milestones, development

78
Q

What causes T1DM?

A

Autoimmune destruction of beta cells of pancreas

79
Q

Genetic association of T1DM

A

HLA-DR and HLA-DQ association

80
Q

Investigations for T1DM

A

Random plasma glucose: ≥11.1mmol/L
2h plasma glucose: ≥11.1mmol/L
Fasting plasma glucose: ≥7.0mmol/L
HbA1c: ≥48mmol/mol / ≥ 6.5%

81
Q

Presentation of T1DM

A

Weight loss
Polyuria & Polydypsia
Hyperglycaemia

82
Q

Examples of insulin therapies of T1DM

A

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): programmable pump / insulin storage device that gives regular or continuous amounts of insulin (usually rapid- acting insulin or short-acting insulin)

83
Q

Types of insulin

A

Long acting –> Glargine, Determir
Short acting –> Lispro, Glulisine, Aspart

84
Q

Examples of long acting insulin

A

Glargine, Determir

85
Q

Examples of short acting insulin

A

Lispro, Glulisine, Aspart

86
Q

What needs annual monitoring for T1DM?

A

diabetic retinopathy, nephropathy and hypertension

87
Q

When does annual monitoring begin for T1DM?

A

12yo for diabetic retinopathy, nephropathy and hypertension

88
Q

Macrovascular complications of T1DM

A

HTN, CHD, CVD

89
Q

Microvascular complications for T1DM

A

retinopathy, nephropathy, neuropathy

90
Q

PACES: ‘Sick day rules’ for T1DM

A

Explain symptoms of DKA
Check blood ketones when ill or hyperglycaemic
Recognition and treatment of hypoglycaemia

91
Q

Diagnosis of DKA

A

“D” diabetes (BM > 11.1mmol/L)
“K” ketones (>3)
“A” acidosis (pH <7.3) or bicarbonate <15mmol/L

92
Q

How is dehydration status classified in DKA?

A

Mild: pH <7.3 –> 5% fluid deficit
Moderate: pH <7.2 –> 7% deficit
Severe: pH <7.1 –> 10% deficit

93
Q

Complications of DKA

A

Cerebral Oedema –> (~25% mortality)
Mx: mannitol or hypertonic saline; restrict fluid intake

Hypokalaemia (<3mmol/L)
Mx: stop insulin temporarily

Thrombosis
Mx: heparin prophylaxis (if appropriate)

Aspiration pneumonia

Inadequate resuscitation

94
Q

How is cerebral oedema managed in DKA?

A

mannitol or hypertonic saline; restrict fluid intake

95
Q

How is hypokalaemia (<3mmol/L)
managed in DKA?

A

stop insulin temporarily

96
Q

How is thrombosis treated in DKA?

A

heparin prophylaxis –> (if appropriate)

97
Q

Emergency management of DKA

A

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) and full clinical assessment (inc. weight, GCS)

98
Q

Fluid management of DKA

A

(1) Deficit = ((deficit* x weight x 10) – initial bolus if non-shocked)  replace over 48h

(+2) Maintenance requirement (remove initial bolus if non-shocked)
First 10kg = 100mL/kg/day
Next 10kg = +50mL/kg/day
Every kg above 20kg = +20mL/kg/day

99
Q

When is insulin/dextrose therapy given in DKA?

A

after 1-2 hours of IV fluid replacement

100
Q

What are the steps of DKA management

A
  1. Emergency management
  2. Fluid management
  3. Insulin / dextrose therapy after 1-2 hours of IV fluid replacement
101
Q

What is the insulin dose used in DKA?

A

Insulin Dose = IV 0.05-0.1 units/kg/hour

102
Q

What is the Insulin / dextrose therapy after 1-2 hours of IV fluid replacement?

A

Insulin Dose = IV 0.05-0.1 units/kg/hour
Start dextrose when <14mmol/L
Change to SC insulin once resolving (30min before stopping IV)
Place on ECG monitor to identify hypokalaemia

NOTE: Preceded by emergency fluid management, and fluid management

103
Q

Signs and Sx of cerebral oedema

A

Cushing’s triad of ICP (bradycardia, hypertension, irregular breathing)

104
Q

Cushing’s triad of ICP

A

bradycardia, hypertension, irregular breathing

105
Q

Classification of Obesity

A

Severely Obese: 99th centile
Obese: >95th centile
Overweight: 85-94th centile

106
Q

RFs for obesity

A

low socioeconomic status, poor diet, genetics, little exercise

107
Q

Investigations for Obesity

A

Growth chart plotting – BMI percentile chart, adjusted to age/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

108
Q

What is the best way to carry out a quick test for obesity?

A

triceps skinfold thickness

109
Q

Management of obesity

A

Conservative:
Self-esteem and confidence building – early intervention is key
Address lifestyle (diet and exercise)

Therapeutic aims:
Reduce excess weight whilst not compromising growth
Dietary counselling
Behaviour modification (age-dependent approach)
Stepwise physical activity programme
Adherence to plan needs strong support from family

Surgical – not recommended in young people

110
Q
A

Paeds (14 decks)

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