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Endocrine disorders Flashcards

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1
Q

Discuss the development of the endocrine system in children

A

Differentiation of cells -> hormone producing cells able to secrete
Just before birth, incr ACTH secretion -> incr cortisol -> rapid maturation of enzyme systems
Birth -> incr ADH, renin + angiotensin
Postbirth
-> incr noradrenaline -> blood glucose maintained by metabolism of brown fat
-> incr thyrotropin (birth stress) -> incr thyroid hormones
-> high GT and sex hormone output

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2
Q

Name risk factors for infants at risk of hypoglycemia

A 
Premature
IUGR
Maternal diabetes
Septicemia
Severe illness
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3
Q

Name causes of infant hypoglycemia

A 
Defects in
- hepatic glycogen release/storage
- carnitine metabolism
- fatty acid oxidation 
Hyperinsulinism 
Cortisol deficiency
GH deficiency
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4
Q

Name symptoms of hypoglycemia

A 
Poor feeding
Lethargy
Apnoea
Cyanotic spells
Hypothermia
Seizure
Coma
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5
Q

What tests should be ordered when evaluating hypoglycemia?

A

Critical

  • true blood glucose
  • LFT
  • electrolytes
  • serum bicarb
  • urinalysis

Archival

  • serum for insulin, ketones, GH, cortisol
  • C peptide
  • carnitine profile
  • amino acids
  • toxins
  • urine amino + organic acids
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6
Q

What are the 3 phases of growth and what do they depend on?

A

Infantile - nutrition
Childhood - GH
Pubertal - sex hormones

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7
Q

What investigations are important when evaluating a child with short stature?

A 
Urine dipstix
Stool microscopy
Hb
Serum albumin
Blood urea
T4 and TSH
Radiological bone age
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8
Q

Discuss a differential for familial short stature

A

Prenatal onset

  • IUGR
  • Silver-Russell syndrome
  • Turner syndrome

Postnatal onset

  • psychosocial dwarfism
  • malnutrition
  • GIT disorder
  • renal disorder
  • cardiopulmonary disease
  • chronic anemia
  • endocrine disease
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9
Q

Which children should be evaluated for a growth disturbance?

A
  1. Height
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10
Q

Discuss a differential for endocrine causes of short stature

A 
Hypopituitarism 
Hypothyroidism
Precocious puberty
CAH
Cushing's syndrome
Pseudohypoparathyroidism
Poorly controlled DM
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11
Q

Name causes of pituitary gland malfunction

A

Cranial

  • holoprosencephaly
  • septooptic dysplasia
  • midline craniocerebral abnormality
  • midfacial abnormality

Embryonic

  • pituitary hypoplasia
  • pituitary aplasia
  • congenital absence of pituitary gland

Childhood cancer (radiation)
Infectious (meningitis, encephalitis)
Infiltrative (histiocytosis)
Trauma

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12
Q

What is the clinical presentation of pseudohypoparathyroidism?

A 
Short stature
Truncal obesity
Short metacarpals
Round face
Mental retardation
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13
Q

What is Silver-Russell syndrome?

A

A rare disorder characterized by IUGR, poor postnatal growth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties

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14
Q

What is Mauriac syndrome?

A

Severe growth failure and HSM due to hepatic deposition of glycogen in poorly controlled diabetics

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15
Q

Give a differential diagnosis for tall statue

A 
Familial tall stature
Obesity
Thyrotoxicosis
Precocious puberty
Marfan's syndrome
Klinefelter's syndrome
Excess GH
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16
Q

Name disorders that are classified as 46, XY DSD

A

Disorder of gonadal development
Disorder of androgen synthesis/action
Cloacal extrophy
Severe hypospadia

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17
Q

Name disorders that are classified as 46, XX DSD

A

Disorder of gonadal development
Androgen excess
Cloacal extrophy
Vaginal atresia

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18
Q

What should you evaluate when approaching ambiguous genitalia?

A 
Clinical examination
U/S
Exploratory laparotomy
Chromosome analysis
Na/K balance
Plasma 17-OH
Gonadal biopsy
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19
Q

Name disorders of puberty

A 
Premature thelarce
Premature adrenarche
Adolescent gynecomastia
Precocious puberty
Pseudoprecocious puberty 
Delayed puberty
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20
Q

Name disorders of water balance

A 
SIADH
Diabetes insipidus
- central
- nephrogenic
DM type I
DM type II
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21
Q

Name causes of SIADH

A

Severe meningitis
Head injury
Pulmonary disorders
Vincristine therapy

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22
Q

Name the clinical features of SIADH

A 
N+V
Mm weakness
Neurological irritability
Convulsions
Coma
Oedema
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23
Q

How do you manage SIADH?

A

Restrict water intake
3% saline 5ml/kg
Furosemide therapy 0.5-1mg/kg

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24
Q

Name the clinical features of diabetes insipidus

A

Polyuria
Polydipsia
Chronic dehydration
Growth failure

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25
How do you make the diagnosis of diabetes insipidus in children?
Urine osmolality <300mOsm/kg Serum osmolality >300mOsm/kg Water deprivation test
26
When should you not perform water deprivation tests?
Night time - inadequate monitoring
27
How do you manage central diabetes insipidus?
Lysine vasopressin/DDAVP
28
What is DDAVP?
Desamino D-arginine vasopressin
29
What is the inheritance pattern of nephrogenic diabetes insipidus?
X linked dominant
30
How do infants with nephrogenic diabetes insipidus present?
``` Vomiting Constipation Hypotonia FTT Recurrent hypertonic dehydration ```
31
How do you manage a child with nephrogenic diabetes insipidus?
High water intake with frequent feeds Low salt diet Hydrochlorothiazide 3mg/kg/d Indomethacin 1.5-3mg/kg/d
32
What is the cause of type I DM?
T-cell mediated pancreatic islet beta cell destruction
33
Name clinical features of DM type I
``` Polyuria Polydipsia Vision blurring Weight loss Glycosuria Ketonuria ```
34
How do you diagnose DM type I?
Clinically Fasting glucoe >7mmol/l 2hr ppg >11.1mmol/l
35
When should hyperglycemia not be regarded as diagnostic of diabetes?
Acute stress situation | Incidental finding
36
How does diabetic ketoacidosis occur?
Insulin deficiency -> incr levels of catecholamines, glucagon, cortisol and GH -> catabolism
37
Name the clinical features of diabetic ketoacidosis
``` Acidotic breathing N+V Abdominal pain Decr LOC Coma ```
38
What should you always consider in a dehydrated, acidotic patient?
Diabetic ketoacidosis
39
What is the criteria to diagnose diabetic ketoacidosis?
BG >11 mmol/l Venous pH <7.3 Serum bicarb <15mmol/l Ketonuria
40
Discuss management of a DKA child
0.9% saline IV 10-20ml/kg bolus Continue infusion for 36-48hrs (replace fluid deficit) Insulin 0.1unit/kg/hr When glucose <11mmol/l, add dextrose Give potassium 2 hours before discontinuing IV insulin, give 1st insulin maintenance dose (0.5-0.7units/kg/24hr)
41
How do you calculate corrected Na?
Measure Na + 2(glucose -5.5)/5.5
42
How do you calculate fluid deficit?
7.5% -10% body weight
43
What is a serious complication of DKA?
Cerebral oedema
44
Name clinical signs of cerebral oedema
``` Headache Altered mental status Vomiting Hypertension Inappropriate HR decrease ```
45
Name clinical signs of newborn hypothyroidism
``` Open posterior fontanelle >1cm Umbilical hernia Coarse facial features Poor sucking Prolonged UC hyperbilirubinaemia ```
46
Which score is used to recognise congenital hypothyroidism?
Congenital hypothyroidism score
47
Name factors in the congenital hypothyroidism score
``` Umbilical hernia Coarse facial features Constipation Hypothermia Enlarged tongue Hypotonia Jaundice >3days Dry skin Wide post fontanelle GA >40wk BW >3.5kg Female ```
48
Name causes of congenital hypothyroidism
``` Dysgenesis Aplasia Maldescent Iodine deficiency Familial enzyme defect Ingestion of goitrogens ```
49
Give examples of goitrogens
Iodine-containing cough mixtures Antithyroid drugs Para-amino-salicylic acid
50
What is the most common use of para-amino salicylic acid?
Treat XDR TB
51
How is congenital hypothyroidism treated?
Thyroxine 10-15ug/kg/day in 1st year
52
Name clinical features of congenital hyperthyroidism
``` Emotional lability Nervousness Behavioural disturbances Sweating Nocturnal enuresis ```
53
Name clinical features of acute adrenal insufficiency
``` Circulatory collapse Low Na Hypoglycemia High K Metabolic acidosis ```
54
Name causes of adrenocortical insufficiency in children
``` Aplasia Hypoplaia CAH Haemorrhage Infection WF syndrome Autoimmune X-linked adrenoleukodystrophy Steroid therapy Hypothalamic damage Pituitary damage ```
55
Discuss the acute management of adrenocortical insufficiency in children
Bloods (electrolytes, acid base, urea, glucose, plasma cortisol assay) Replace fluids and electrolytes - Ringer's lactate/plasma/Haemaccel - 0.9%NaCl 5% dextrose at 10-20mg/kg over 1st hour then 60ml/kg over following 24hrs Hydrocortisone sodium succinate - as IV bolus 50mg small child, 100mg large child, then - 50-100mg/24hr maintenace Florinef 0.05-0.1mg//d orally Monitor patient
56
What is CAH?
AR condition due to partial/severe deficiency of enzyme in the biosynthetic pathway of cortisol (and aldosterone in 50% of cases)
57
Discuss management of CAH
Oral hydrocortisone 20-25mg/m2/d Oral florinef 0.05-01mg/d Dietary salt if needed
58
Name clinical signs of Addison's disease
``` Weak Anorectic Vomiting Diarrhoea Hydration Hypotension Skin pigmentation ```
59
Discuss management of Addison's disease
Oral hydrocortisone 20-25mg/m2/d | Oral florinef 0.05-01mg/d
60
Name the cause of Cushing syndrome
1. Excess steroid therapy 2. Adrenal tumour 3. Cushing's disease
61
Name the clinical signs of Cushing's syndrome
``` Moon face Truncal obesity Buffalo hump Purple striae Mm wasting Hypertension Virilisation ```
62
Name investigations you would perform in a child with signs of Cushing's syndrome
24hr urinary free cortisol excretion Overnight dexamethasone adrenal suppression test Tumour: U/S IVP CT
63
Name causes of hypocalcemia in infancy
``` Prematurity Asphyxia Gestational diabetes Hypoparathyroidism High P intake Hypomagnesemia Chronic alkalosis Maternal hyperparathyroidism ```
64
Name causes of hypocalcemia in childhood
``` Vitamin D deficiency Rickets Chronic renal failure Hypoparathyroidism Pseudohypoparathyroidism ```
65
Name investigations you would perform in a child with signs of hypocalcemia?
``` Calcium Phosphate Alkaline phosphatase PTH 25-hydroxyvitamin D ```
66
Name parathyroid-related causes of hypocalcemia
Congenital - transient neonatal hypoparathyroidism - PTH synthesis defect - aplasia - CaSR Acquired - autoimmune - surgical - magnesium deficiency - nutritional - bisphosphonate ingestion - PTH resistance
67
Discuss management of chronic hypoparathyroidism
Calcium supplements | 1,25 hydroxyvitamin D
68
Name clinical features of Albright's hereditary osteodystrophy
``` Short stature Mental retardation Skeletal changes Subcutaneous ossifications Brachydactyly ```
69
What is the Frankfort plane?
Line of sight (hole in ear to bottom of eye socket)

Coovadias Paediatrics (10 decks)

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