Endocrine/Metabolic Paeds Flashcards

(30 cards)

1
Q

CONGENITAL HYPOTHYROIDISM Causes

A
  • Thyroid dysgenesis: agenesis, hypoplasia, ectopia
  • Dyshormonegenesis
  • Thyroidoglobulin defect
  • Transient hypothyroidism
  • Hypothalamic/pituitary abnormality
  • Rares causes, including endemic cre<nism
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2
Q

Symptoms CONGENITAL HYPOTHYROIDISM

A
  • Cons<pa<on
  • Feeding problems
  • Lethargy
  • Respiratory signs and/or symptoms
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3
Q

Signs CONGENITAL HYPOTHYROIDISM

A
  • Hoarse cry
  • Neonatal jaundice
  • Facial puffiness
  • Enlarged protruding tongue
  • Umbilical hernia
  • CNS:
  • Spas<city
  • Tremor
  • Ataxia
  • SNHL
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4
Q

Causes ACQUIRED HYPOTHYROIDISM

A
  • 1°:
  • Hashimoto’s thyroidi<s
  • Fe-deficiency
  • Removal of thyroglossal duct
    cyst
  • Rx for thyrotoxicosis
  • Goitrogens Drugs: lithium,
    amiodarone
  • Infiltra<on
  • Liver haemangioma
  • Central: any acquired hypothalamic-pituitary causes
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5
Q

Symptoms ACQUIRED HYPOTHYROIDISMz

A

Symptoms
* Cons<pa<on
* Weight gain
* Tiredness
* Poor school performance
* Cold intolerance
* Menstual irregularity

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6
Q

ACQUIRED HYPOTHYROIDISM Signs

A
  • Goitre
  • Pallor
  • Dry skin
  • Brible/sparse hair
  • Myxoedema
  • Short/slow growing
  • Proximal muscle weakness
  • Delayed relaxa<on of the tendon
    reflexes
  • Ruberty: early or delayed
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7
Q

Hypoglycaemia

A

Hgt when physiological neurological dysfunc6on begins

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8
Q

Pathophysiology HYPOGLYCAEMIA

A
  • In the fas6ng state: glucose is produced by glycogenolysis & gluconeogenesis
  • Glucose u6lisa6on as major energy source is mainly under the influence of
    insulin
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9
Q

Neuroglycopaenic symptoms Hypoglycaemia

A
  • Headahce, visual disturbances,
    drowsiness & coma, convulsions
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10
Q

INSULIN DEPENDANT DM Associa)on with other autoimmune condi)ons:

A

Hashimoto thyroidi)s
Type A gastri)s
Coeliac disease
1° adrenal insuffiency

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11
Q

INSULIN DEPENDANT DM sx

A
  • Polydipsia
  • Polyuria (enuresis &
    nocturia)
    Can present in DKA
  • Polyphagia
  • Poor weight gain/LOW
  • Abdominal pain ± vomi)ng
  • Fa)gue, irritability, ! school performance
  • Blurred vision (osmo)c swelling of the lens)
  • Calf cramps
  • Candida vagini)s: pruri)s vulvae
  • Recurrent skin infec)ons & poor wound
    healing
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12
Q

Dx INSULIN DEPENDANT DM

A
  • Symptoms
  • Heavy glycosuria: > 55 mmol/L
  • Random plasma glucose ≥ 11.1 mmol/L
    Fas)ng plasma glucose ≥ 7 mmol/L
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13
Q

Acute Complica6ons INSULIN DEPENDANT DM

A

Hyperglycaemic crisis: DKA or HONK
Life-threathening hypoglycaemia

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14
Q

Chronic Complica6ons INSULIN DEPENDANT DM

A
  1. Microvascular:
    5-10 years aner onset of disease
    ▪ Nephropathy
    ▪ Re)nopathy
    ▪ Neuropathy
    ▪ Diabe)c foot
  2. Macrovascular (more in DM II):
    ▪ CHD
    ▪ Cerebrovascular disease
    ▪ Peripheral artery disease
    ▪ Monckeberg atherosclerosis
  3. Diabe)c cardiomyopathy
  4. Diabe)c famy liver disease
  5. Hyporeninemic hypoaldosteronism
  6. Limited joint mobility
  7. Sialadenosis (enlargement of salivary gland)
  8. incr risk of infec)on: decr immunity, poor )ssue perfusion & incr growth
    of bacteria & fungi
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15
Q

DIABETIC KETOACIDOSIS Etiology

A
  • Undiagnosed, untreated DM
  • Rx failure in known diabe5cs
  • stress : Infec5ons
    Surgery
    Trauma
    MI
  • drugs : Glucocor5coid therapy
    Alcohol or cocaine use
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16
Q

Symptoms DKA

A
  • Polyuria (osmo5c diuresis) & polydipsia
  • Recent LOW
  • Nausea & vomi5ng ! expels gastric acid
  • Abdominal pain (ketoacidosis leads to irrita5on of the peritoneum)
17
Q

Signs DKA

A

Rapid onset (< 24 hours)
* Toxic/febrile
* Fruity odor on the breath (exhaled acetone)
* Kausmall’s breathing (respiratory compensa5on)
* Signs of volume deple5on, hypotension, circulatory collapse
* Neurological abnormali5es:
- Changed consciousness
- Lethargy
- Blurred vision & weakness
- Coma

18
Q

Mx DKA

A
  1. Fluids
  2. Potassium
  3. Insulin
  4. Sodium bicarbonate
19
Q

Non-resolving acidosis in DKA, WHAT TO CONSIDER?

A
  • Sepsis
  • Check drip site & patency
  • Check if all bags are running
  • Enough fluid: adequate resus
  • Replace urine loss
  • Consider acidosis due to hyperchloraemic acidosis
  • Consider INCR insulin infusion rate > must be discussed with consultant
20
Q

Sx of cerebral oedema

A
  • Headache
  • Change in vitals: decr HR, incr BP, decr sats, fever
  • Change in CNS signs: decr LOC, irritability, restlessness, CN palsies
21
Q

PRECOCIOUS PUBERTY

A

Girls = 2° sexual characteris1cs < 8 y/o
Boys = 2° sexual characteris1cs < 9 y/o

22
Q

PRECOCIOUS PUBERTY problems

A
  • Short adult height
  • Psychological
  • Prac1cal
  • LBW
  • PCOS in teens
  • PH, clitoromegaly
  • Premature babies
  • Exclude CAH, adrenal & ovarian tumours
23
Q

RICKETS

A

= failure to mineralise newly-formed bone
Occurs in children where epiphyses have not yet fused

24
Q

Causes of Rickets

A

Causes
* Vit D deficiency; foetal level is influence may mom’s vit D status
* Abnormal vit D metabolism
* Lack of Ca2+
* Lack of PO4
* decr ALP

25
Suspect Rickets if??
* Dark skin * decr sun exposure * No vit D suppl during pregnancy * Prolonged exclusive breast feeding * No vit D suppl of infant * Foods incr in phytates
26
Skeletal deformi;es in rickets
* Craniotabes * Persistent ant frontanel * Slowing linear growth * Metaphyseal swelling * Rickety rosary * Harrison’s sulci * Bowing deformi;es long bones * Frontal bossing/craniosyntosis
27
Non-skeletal features
* FTT * Teeth: poor enamel forma;on, caries * DCOM: decr Ca2+ * Bone pain * Convulsions: decr Ca2+ & decr ALP * Irritable child * Hypotonia * Delayed motor milestones * Carpopedal spasm: decr Ca2+ * incr infec;ons
28
CONGENITAL ADRENAL HYPERPLASIA
= autosomal recessive condi1on due to a partial/severe deficiency of an enzyme in the biosythetic pathway of cortisol & in 50% of cases also aldosterone
29
Pathophysiology of Cong Adrenal Hyperplasia
Cortisol def early in fetal life = stim excessive ACTH release = Hyperplasia adrenal cortex & virilisation of external genitalia
30
Clinical Cong Adrenal Hyperplasia
* Newborn with intersexuality in whom gonades are not palpable