Endocrinology and Growth Flashcards

(44 cards)

1
Q

What causes hypoglycaemia in neonates?

A
  • IUGR and prems - poor glycogen stores
  • maternal DM - hyperplasia of islet cells –> high insulin
  • large for date
  • hypothermia
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2
Q

How does hypoglycaemia present in neonates?

A
Jitteriness
Irritability
Apnoea
Lethargy
Drowsiness and seizures
Sweating
Tachycardia and tachypnoea
Coma
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3
Q

What causes hypoglycaemia in children?

A

Fasting (children shouldn’t be starved longer than 4 hours)
Insulin excess - iatrogenic with DM, beta-cell tumours, autoimmune
Inborn error of metabolism
Fructose intolerance
Aspirin/alcohol poisoning

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4
Q

What is ketotic hypoglycaemia?

A

Young children become hypoglycaemic following short period of starvation
Limited reserves for gluconeogenesis
Child is short and thin with low insulin levels
Give regular snacks and glucose drinks and should grow out of it

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5
Q

What is the epidemiology of diabetes?

A

2/1000 children by 16
Most common in Scotland and Finland

Identical twin has 40% chance
1/40 if father has it
1/80 if mother does

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6
Q

How is diabetes diagnosed?

A

Glucose >11.1 mmol/L
Glucosuria
Ketonuria

Fasting glucose >7 mmol/L

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7
Q

How is diabetes managed?

A

Bolus injections pre meals
Basal injections in evening

High complex carbs and low fat diet

Insulin needed will rise during puberty due to antagonistic effects of GH

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8
Q

How does DKA present?

A

Acetone on breath, vomiting, dehydration, abdo pain, hyperventilation, hypokalaemia

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9
Q

How is DKA managed?

A

Fluids - correct dehydration gradually to avoid cerebral oedema
Insulin - correct blood sugar gradually
Potassium

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10
Q

What are causes of short stature?

A

Familial
IUGR and extreme prematurity - ?GH treatment
Delay of growth and pubety - delayed sexual changes but should reach target height
Endocrine - hypothyroidism, GH deficiency, steroid excess (esp if child is overweight)
Nutritional illness
Chromosomal disorder
Disproportional short stature

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11
Q

What is Russell-Silver syndrome?

A

Disorder present from birth that involves poor growth, low birth weight, short height and differences in size of two halves of body

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12
Q

What is normal puberty in females?

A

Breast development - 8.5-12.5
Pubic hair growth and rapid height spurt at same time
Menarche 2.5 years after start of puberty (only 5cm height gain remaining)

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13
Q

What is normal puberty in males?

A

Testicular enlargement is the first sign
Pubic hair growth between 10 and 14 years
Height spurt when testicular volume is 12-15ml

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14
Q

What is delayed puberty?

A

14 years in females
15 years in males

More common in males

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15
Q

What are causes of delayed puberty?

A

Constitutional delay in puberty and growth - familial, induced by exercise or dieting

Low gonadotrophin secretion - systemic diseae, aquired hypothyroidism or hypo-pituitary disease

High gonadotrophin secretion - chromosomal abnormalities, steroid enzyme deficiencies, aquired gonadal damage

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16
Q

How is delayed puberty investigated?

A

Assess pubertal staging
Identify systemic disorders and Turners in girls
Measure sex and steroid hormones
Bone age measurements

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17
Q

What is obesity?

A

> 30 BMI - probably more due to decreased activity

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18
Q

What are complications of obesity?

A

Orthopaedic problems - abnormal foot structure
Idiopathic intracranial hypertension (headaches, blurred optic disc margins)
Hypoventilation syndrome - daytime sleepiness, snoring, hypercapnia, heart failure
Gall bladder disease
T2DM
HTN
Abnormal blood lipids
PCOS

19
Q

What drugs are available for obesity?

A

Orlistat - lipase inhibitor –> steatorrhoea

Metformin - decreases GI glucose absorption

20
Q

What syndromes are associated with obesity?

A
Prader-Willi
Pseudohypoparathyroidism
Laurence-Moon-Biedl syndrome
Cohen syndrome
Downs syndrome
Turner syndrome
21
Q

What is precocious puberty?

A

Development of secondary sexual characteristics before 8 in girls and 9 in boys

22
Q

What causes precocious puberty?

A

Gonadotrophin dependent on premature activation of hypothalamic-pituitary gonadal axis

Gonadotrophin independent from excess sex steroids

23
Q

What are the thyroid levels in a neonate?

A

Fetus produces reverse T3 which is inactive
After birth there is an increase in TSH –> increase in T3 and T4
Prems may have low T4 for first few weeks but if TSH is in normal range then no thyroxine needed

24
Q

What are causes of congenital hypothyroidism?

A

Maldescent of thyroid and athyrosis
Dyshormonogenesis - inborn error of synthesis (INCEST)
Iodine deficiency - rare in UK
TSH deficiency - rare

25
How does congenital hypothyroidism present?
``` Asymptomatic and found on screening Failure to thrive Prolonged jaundice Constipation Large tongue Umbilical hernia Goitre ```
26
How does acquired hypothyroidism present?
``` Females>males Short stature/growth failure Cold intolerance Dry skin Cold peripheries Bradycardia Thin, dry hair Goitre Pale, puffy eyes with loss of eyebrows Delayed puberty ```
27
How does hyperthyroidism present?
Mainly Grave's disease Eye signs less common Low TSH and high T3/4 ``` Anxiety Increased appetite Sweating Diarrhoea Weight loss Rapid height growth Tremor tachycardia Warm, vasodilated peripheries Goitre ```
28
How is hyperthyroidism treated?
Carbimazole or propylthiouracil beta-blockers for symptomatic relief
29
How does T2DM present in children?
``` Common in minority girl 12-16 years Acanthosis nigricans Obesity Hypertension No thirst or increased urination ```
30
What are causes of Cushing syndrome?
Glucocorticoid excess usually due to long term treatment for asthma, nephrotic syndrome or bronchopulmonary dysplasia Improve by taking mediation in morning on alternate days ACTH-driven - pituitary adeoma, ectopic tumour
31
How does Cushing syndrome present?
``` Growth failure Short stature Face and trunk obesity Red cheeks Hirsutism Striae HTN Bruising Muscle weakness and wasting ```
32
Who gets diabetes insipidus and how does it present?
Failure to produce ADH --> polyuria and polydipsia Genetic condition, treated with desmopressin for life Vigorous suck with vomiting Fever without cause Constipation Excessively wet nappies
33
What is growth hormone deficiency?
Isolated defect or secondary to panhypopituitarism Congenital mid-facial defects - craniopharyngioma Trauma Hypothalamic tumour Meningitis Bone age is decreased
34
How is GH deficiency treated?
Biosynthetic GH given subcut daily | ?IGF-1
35
What causes gynaecomastia?
Occurs in half of males during puberty Medicines Cannabis or steroids Tumours Klinefelter syndrome Leydig tumour - increased oestrogens Viral orchitis- reduced testosterone
36
What is thelarche?
Premature breast development - 6 months-2 years | Absence of axilalry and pubic hair
37
What is pubarche?
Pubic hair before 8yo in females and 9yo in males Without other signs of sexual development Accentuation of normal maturation of androgen production by adrenal gland More common in Asian and Afro-Carribean children Rule out late-onset CAH and adrenal tumour
38
What are the four phases of human growth?
Fetal - fastest period of growth (30% of eventual height) Determined by size of mother, placental nutrition Infantile - infancy to 18 months Dependent on nutrition, good health and normal thyroid function Accounts for 15% of height Failure to thrive if inadequate Childhood - contributes to 40% of height Pituitary growth hormone produces insulin-like growth factor 1 at epiphyses Needs adequate nutrition, good health, thyroid, vit D, steroids Pubertal - sex hormones cause back to lengthen 15% of final height Causes fusion of the epiphyseal growth plates and cessation of growth
39
What is a normal menstruation?
21-45 days 3-7 days blood loss 6pads/day is heavy bleeding
40
What investigations are done for FTT?
``` History Urine M, C + S Stool M, C + S Stool for reducing substances Height, weight and head circumference ```
41
What investigations are done for hypoglycaemia?
Serum glucose and ketones Insulin, c-peptide, GH and cortisol levels FFA, TFT Urine ketones, glucose, urinalysis Screen for infection - FBC, blood culture
42
How is hypoglycaemia treated?
IV dextrose 10% 2.5ml/kg in neonates 2ml/kg in children
43
How is precocious puberty investigated?
Males - bilateral large testicles - central or peripheral tumour - unilateral large testicle - gonadal tumour Females - pelvic USS - ?PCOS
44
How does diabetes insipidus present and what causes it?
Polyuria, polydipsia, weight loss Intracranial tumours or injury -> decreased production of ADH