Endocrinology Flashcards

1
Q

6 anterior pituitary hormones

A

GH, TSH, ACTH, FSH, LH, prolactin

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2
Q

Threshold osmolality when ADH released

A

283 mOsm/kg (thirst at 295)

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3
Q

GH - stimulated by what factors

A

Sleep, stress, haemorrhage, fasting, hypoglycaemia, exercise (30 mins post exercise)

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4
Q

Conditions associated with GH excess

A
  • McCune Albright
  • Carney complex
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5
Q

ACTH time of peak release

A

3-4 am (nadir at 10-11pm)

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6
Q

Factors which increase prolactin secretion

A

Sleep, stress, lactation, nipple stimulation, anti-dopaminergic drugs (inc metoclopramide, TRH (therefore elevated in hypothyroid)

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7
Q

Craniopharyngoma symptoms

A
  • Anterior pituitary hormone deficiencies
  • Growth failure, DI (eg polyuria, polydipsia, nocturia), visual symptoms
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8
Q

Septo-optic dysplasia triad

A
  1. Optic nerve abnormality (absent optic chiasm +/- optic nerve hypoplasia)
  2. Agenesis or hypoplasia of the septum pellucidum +/- corpus callosum
  3. Variable hypothalamic insufficiency
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9
Q

Congenital facial features suggestive of GH deficiency

A

Midline anomalies eg cleft lip/palate, or single maxillary incisor

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10
Q

Congenital GH deficiency - presenting features

A
  • Normal length & wt at birth but drop by 1 yr of age (if severe) - red flag = falling off curve age 3
  • Round head, broad face, prominent frontal bone, depressed saddle shaped nose, bulging eyes, sparse facial axillary and pubic hair
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11
Q

GH deficiency diagnostic tests

A
  • IGF-1 and IGF-BP3 (IGF binding protein) (GH def unlikely if on upper limit of N)
    +
  • FBC, ESR, CRP
  • Metabolic panel
  • Coeliac screen
  • Free T4/TSH
  • Growth velocity
  • Bone age
  • GH stimulation testing
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12
Q

MPH calculation

A
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13
Q

Constitutional gth - key features

A
  • Normal gth velocity and DELAYED bone age
  • Tracks MPH expected for the family
  • GH and other studies are normal
  • Bone age mirrors height age instead of chronological age
  • Often associated with delayed puberty
  • Expected to meet full height potential
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14
Q

Genetic (familial) short stature - key features

A
  • Normal gth velocity and normal bone age
  • Usually family hx
  • Tracks at predicted MPH
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15
Q

GH deficiency short stature - key features

A

DECREASED gth velocity and DELAYED bone age

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16
Q

Syndromic causes short stature

A
  • Noonan
  • Turner
  • Williams
  • 22q11 deletion
  • Cornelia de Lange
  • Fanconi anaemia
  • Prader Willi
  • Russell Silver (with relative macrocephaly)
  • Skeletal dysplasias eg achondroplasia
17
Q

Non-syndromic causes short stature

A
  • Systemic disease - IBD, coeliac, HIV, anaemia, renal
  • Hypothyroidism
  • Adrenal insufficiency and excess
  • Psychosocial - stress, emotional deprivation
  • Idiopathic - normal GH secretion
  • SHOX gene deletion
18
Q

Madelung deformity

A

A/w SHOX (SHOX a/w Turner)
*Slowed gth of distal radius -> shorter, curved
*Dislocation of the ulna, causing dorsal subluxation and prominent ulnar head
*Radial deviation of the wrist
*Triangular carpal bones

19
Q

Test to order before commencing Prader Willi on growth hormone

A

Sleep study (polysomnography) - risk of resp compromise and death

20
Q

Things to monitor on GH treatment

A
  • SCFE
  • IIH
  • Transient CHO intolerance
  • Transient hypothyroidism
  • Scoliosis
  • No increased risk of leukaemia
21
Q

Diagnostic criteria DI

A
  • Serum osmo > 300 mOsm/kg and urine osmo <300 mOsm/kg pathognomonic
  • Serum ADH or COPEPTIN
  • Water deprivation test
  • Also urine specific gravity <1.005 and urine osmo <200 mOsm/kg
22
Q

Central DI - key feature

A

No increase in ADH despite increase in plasma osmolality (aka no posterior pituitary release)

23
Q

Peripheral (nephrogenic) DI - key feature

A
  • Lack of response to ADH by collecting tubules -> dilute urine.
  • No increase in urine osmolality despite increasing ADH
24
Q

SIADH diagnostic criteria

A

~Dilute blood & concentrated urine~
* Low serum osmolality (<275 mOsm/kg)
* High urine osmolality (>100 mOsm/kg)
* Euvolaemia
* Increased urine sodium (>20 mmol/L)
* no other cause for hyponatraemia

24
Q

Describe cerebral salt wasting

A
  • Excess secretion of atrial natriuretic peptide (ANP) - released in hypervolaemia
  • Promotes salt and water excretion & lowers BP
  • Causes - CNS tumours, head trauma, hydrocephalus, CVA
  • Signs - high UO & hypovolaemia
  • Labs - low serum Na, high urinary Na, low ADH, high ANP
  • Rx - 3% NaCl
25
Q

Cerebral salt wasting v SIADH

A
26
Q

Syndromic causes tall stature

A
  • Klinefelter
  • Marfan
  • Homocystinuria
  • Beckwith Wiedeman
  • Sotos syndrome
27
Q

Key features Sotos syndrome

A
  • Facies - long narrow face, high forehead, small pointed chin
  • Premature eruption of teeth, strabismus, ASD
  • NSD1 gene
  • Accelerated growth until 4-5 yrs, then bone age correlates
  • Normal adult height
  • Puberty at normal time
  • Big hands and big feet, present as clumsy
  • Mild ID
28
Q

Symptoms prolactinoma

A

In kids (macroademona) - visual defects esp bitemporal hemianopia, blurred or loss of vision
In adolescents - headache, amenorrhoea, galactorrhoea

29
Q

PTH regulation

A

STIMULATED by HIGH phosphate and LOW Ca
INHIBITED by calcitriol (active Vit D) and calcitonin (released by parafollicular cells in thyroid)

29
Q

Vit D and PTH effects on Ca and PO4

A
  • High Vit D -> high Ca + high PO4
  • Low Vit D -> low Ca and low PO4
  • High PTH -> high Ca and low PO4
  • Low PTH -> low Ca and high PO4
30
Q

Vit D synthesis

A
  • Skin (UV) - 7-dehydrocholesterol → Pre-vit D3 → Vit D3
  • Liver: Vit D3 → 25-hydroxyvit D (calcidiol)
  • Kidneys: 25(OH)D → 1,25-dihydroxyvitamin D (1, 25-(OH)2-D, calcitriol, active form)
31
Q

Actions of Vit D

A

*Increases Ca and PO4 absorption in small intestine (more serum Ca)
*Increases renal tubular Ca and PO resorption (prevents excretion in urine)
*Increases Ca resorption from bone (stimulates osteoclasts) (less significant affect than intestinal absorption)

32
Q
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33
Q
A