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
Name 4 causes central precocious puberty
- Idiopathic - CNS tumors - septo-optic dysplasia - neurofibromatosis
26
Name 4 causes peripheral precocious puberty
- mccune Albright syndrome - testicular/ ovarian tumours - adrenal tumours - liver tumours
27
Define and classify delayed puberty
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
Name 2 normal variants of early puberty
- 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
Name 6 common causes short stature
- 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
Name 5 basic investigations for short stature
- 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
Name absolute indication for growth hormone treatment
Hypopituitarism
32
Most accurate test of thyroid function?
Tsh
33
Name complication DkA
Cerebral oedema
34
Name genetic cause tall stature
Manfan syndrome