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Paediatrics > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Define maturity onset diabetes of the young

A

Genetic defects of beta cell function

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2
Q

Define neonatal dm

A

Monogenic form of dm: single gene mutation
Eg glucokinase deficiency, agenesis of pancreas, chromosome KCNJ11 or ABCC8 defect

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3
Q

Name 2 drugs that can cause diabetes

A
  • Cyclosporine
  • glucocorticoids
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4
Q

Name 3 causes secondary dm

A

Exocrine pancreatic destruction by

  • Cystic fibrosis
  • hypoxia
  • Pancreatitis
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5
Q

Name 4 biochemical criteria of DkA

A
  • Hyperglycemia 11,1 or more
  • Venous ph < 7,3
  • serum bicarb <15
  • ketonuria
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6
Q

Name 2 symptoms hypoglycaemia

A
  • Neurogenic (adrenergic): sympathetic drive - pallor, sweating, anxiety, tremor, palpitations
  • Neuroglycopenia: central neurological symptoms - hunger, irritability, confusion, coma, convulsions
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7
Q

Approach to obese child?

A

Suspect syndrome obesity (short and obese )
→ karyotype, methylation studies

Suspect endocrine disorder (short and obese), consider:
- Cushing syndrome
- Hypothyroid
- growth hormone deficiency

Suspect none of the above (tall and obese)
→ simple/nutritional obesity

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8
Q

Name 5 investigations for obese child

A
  • Fasting and 2 hour post glucose levels, insulin levels
  • fasting lipid panel
  • thyroid function tests
  • Bone age
  • Karyotype if suspect syndromic
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9
Q

Name 9 complications childhood obesity

A
  • Psychosocial: poor self esteem, eating disorders
  • pulmonary: sleep apnoea, reactive airway disease
  • git: gallstones, decrease Vit D and iron concentrations
  • renal: glomerulosclerosis
  • musculoskeletal: SUFE, Blount’s, forearm fracture, flat feet, lower limb malalignament, increased prevalence osteoarthritis
  • neuro: pseudotumor cerebri, increased prevalence idiopathic intracranial ht
  • CVS: dyslipidaemia, coagulopathy,
  • skin: acanthosis nigricans, intertrigo, furunculosis, hidradenitis suppurativa
  • endocrine: precocious puberty, hypogonadism boys, accelerated linear growth, advanced bone age, DM 2
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10
Q

Name 10 clinical features of congenital hypothyroid

A

Abdo
- Umbilical. Hernia
- constipation
- feeding problems

General
- hypothermia
- prolonged jaundice
- pale, mottled, dry skin

Head and neck
- coarse facial features
- macroglossia
- goitre occasionally

Neuro
- hypotonia
- wide posterior fontanelle
- hoarse cry
- developmental delay

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11
Q

Name 10 clinical features of acquired hypothyroid

A
  • Short stature
  • obesity
  • goitre
  • puffy eyes with loss lateral third eyebrows
  • constipation
  • delayed puberty
  • slow relaxing reflexes
  • Deterioration in school work, learning difficulty
  • cold peripheries and intolerance
  • dry skin
  • bradycardia
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12
Q

Name 5 causes of congenital hypothyroid

A
  • 85% thyroid dysgenesis: aplasia, hypoplasia, ectopic gland
  • dyshormogenesis 15%
  • ingestion goitrogens / maternal drugs: iodine containing cough mixtures, antithyroid drugs
  • Tsh receptor defect
  • secondary or tertiary: TRH and tsh deficiency
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13
Q

Name 9 causes of acquired hypothyroid

A

Primary
- Iodine deficiency
- Autoimmune thyroiditis
- goitrogens
- antithyroid drugs
- thyroid surgery
- Neck irradiation

Secondary or tertiary
- craniopharyngioma/other tumours
- cranial irradiation
- neurosurgery

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14
Q

Name 8 clinical features hyperthyroid

A

SWEATING
Sweating,
Weight loss
Emotional lability
Appetite increase
Tremor/tachycardia
Intolerance heat, irregular menstruation, irritability
Nervousness
Goitre and gastrointestinal problems (diarrhea)

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15
Q

Name 9 causes hyperthyroid in children

A
  • Graves = 95%!

Other rare
- activating mutations of tsh receptor
- mccune Albright syndrome
- toxic adenoma
- toxic multi nodular goitre
- hashitoxicosis
- lymphocytic thyroiditis
- subacute thyroiditis
- Tsh secreting pituitary adenoma

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16
Q

Treatment graves

A

Medical therapy with carbimazole first choice

Only if failed, consider radioactive iodine and lastly surgery

17
Q

How classify disorders of sex development (dsd)? (4)

A

46 xx DSD
- disorders of ovarian development
- fetal androgen excess

46 xy DSD
- Disorders of testicular development
- disorders of androgen synthesis / action

18
Q

Investigations for DSD? (4)

A
  • Genetics: Karyotype or qf PCR, sry gene
  • hormones: serum 17OH progesterone, cortisol, testosterone, estradiol, DHEAS, androstenedione, lh, FSH, anti - mullerian hormone
  • serum electrolytes!
  • ultrasound abdomen and pelvis
19
Q

Clinical findings congenital adrenal hyperplasia? (2)

A
  • Neonate with virilisation at birth
  • male neonate with vomiting and dehydration
20
Q

Biochemical findings congenital adrenal hyperplasia? (5)

A
  • hypo Na
  • hyper K
  • metabolic acidosis
  • elevated 170H progesterone
  • low serum cortisol
21
Q

Management congenital adrenal hyperplasia? (2)

A

Emergency: iv hydrocortisone and 0,9% iv ns
Maintenance: hydrocortisone with or without fludrocortisone

22
Q

Define normal puberty

A

Girls 8-13 years
Boys 9 -14

23
Q

Define precocious puberty

A

Any signs of secondary sexual maturation
Girls<8
Boys < 9 years

24
Q

Name and define the 2 types of precocious puberty (5)

A

Central precocious puberty/ gonadotropin dependent
- premature activation hpG axis
- More common in girls, idiopathic in > 90%
- boys: high incidence intracranial pathology - do MRI brain

Peripheral precocious puberty/ gonadotropin independent
- secondary sex characteristics from increased sex steroid activity
- a number of tumours may secrete sex hormones, require referral for specialist opinion.

25
Q

Name 4 causes central precocious puberty

A
  • Idiopathic
  • CNS tumors
  • septo-optic dysplasia
  • neurofibromatosis
26
Q

Name 4 causes peripheral precocious puberty

A
  • mccune Albright syndrome
  • testicular/ ovarian tumours
  • adrenal tumours
  • liver tumours
27
Q

Define and classify delayed puberty

A

Absent signs puberty at girl >13 or boy >14

  • Temporary disorders: constitutional delay in growth and puberty, chronic disease or nutritional disorders
  • Permanent: hypo or hyper gonadotrophic hypogonadism
28
Q

Name 2 normal variants of early puberty

A
  • Premature thelarche: isolated unilateral/ bilateral breast enlargement with no other signs precocity, occur commonly infants / preschool girls. Usually benign self limited
  • Premature adrenarche: early appearance sexual hair without other signs. Early maturational event of adrenal androgen production.
29
Q

Name 6 common causes short stature

A
  • Normal variation: familial, constitutional
  • Genetic / chromosomal/ congenital: turner syndrome, noonan syndrome, prader willi, Russel silver syndrome (proportionate dysmorphic features)
  • skeletal dysplasia: achondroplasia/ hypochondroplasia (dysproportionate dysmorphic features)
  • chronic systemic disorders eg IBD, coeliac disease, severe asthma (short and thin)
  • endocrine eg untreated hypothyroid , growth hormone deficiency, cushings, hypopituitary (short and fat )
  • emotional/ psychosocial deprivation (short and thin)
30
Q

Name 5 basic investigations for short stature

A
  • FBC: screen for anemia, which could indicate chronic illness
  • UCE, LFT, bone profile: screen for renal and hepatic disease
  • ESR, CRP: screen IBD
  • TFT: screen hypothyroid
  • coeliac antibodies
31
Q

Name absolute indication for growth hormone treatment

A

Hypopituitarism

32
Q

Most accurate test of thyroid function?

A

Tsh

33
Q

Name complication DkA

A

Cerebral oedema

34
Q

Name genetic cause tall stature

A

Manfan syndrome

Paediatrics (15 decks)

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