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Paeds BPT Written Exam > Endocrine > Flashcards

Endocrine Flashcards

1
Q

Low calcium, low phosphate cause?

A

Vitamin D deficiency

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2
Q

High calcium, high phosphate cause?

A

Vitamin D excess (Would also get low PTH)

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3
Q

Findings on Hypoparathyroidism bloods?

A

Low calcium
High phosphate
Low PTH

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4
Q

Causes of hypocalcemia

A

Transient hypocalcemia of infancy (<72hrs)
Vitamin D deficiency
Magnesium deficiency
Hypoparathyroidism
Cystic fibrosis
Pseudohypoparathyroidism

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5
Q

Causes of hypoparathyroidism

A

Thyroidectomy or parathyroidectomy
22q11 deletion syndrome (DiGeorge)!!
Autoimmune (APS1 which is associated with Addisons disease and mucocutaneous candidiasis)

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6
Q

Action of PTH

A

Activates 25,vit D to 1,25(OH)2vitD which increases calcium reabsorption and increases phosphate excretion in the kidney

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7
Q

Features of pseudohypoparathyroidism

A

PTH resistance, so PTH will be high but not effective so will get low calcium and high phosphate

Short stature
Tetany
Short 4th and 5th digits
Round facies / obesity
Developmental delay

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8
Q

Features of pseudopseudohypoparathyroidism

A

Skeletal manifestations:
- brachydactyly
- short stature
- round face

No PTH resistance, so normal PTH and calcium levels
Due to paternal imprinting of the GNAS mutation

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9
Q

Causes of Hypercalcemia

A
  • Primary hyperparathyroidism
    ○ Causes increased bone resorption, increased renal Ca+ reabsorption and absorption of GI calcium (Via calcitriol) (usually as part of MEN)
  • Malignancy (PTHrP)
  • Excess vitamin D
    ○ Too much GI calcium absorption
    ○ May be due to too much 1,25 vit D (calcitriol), ectopic sources of vitamin D eg from granulomatous disease and subcutaneous fat necrosis
  • Thiazide diuretics
    ○ Increased Ca++ reabsorption in distal tubule of kidney
  • Thyrotoxicosis
  • Sarcoidosis
  • Williams Syndrome
  • Idiopathic infantile hypercalcemia
  • Prolonged immobilisation (causes increased bone turnover)
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10
Q

Management of hypercalcemia

A
  1. Hyperhydration
  2. Bisphosphonates
  3. Glucocorticoids (helpful if due to too much vitamin D)
  4. Loop diuretics sometimes used
  5. calcitonin (short acting)
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11
Q

Features of MODY

A

Autosomal dominant inheritence
- need 3 generations of family members and at least one diagnosed with DM <25yrs old
- Monogenic
- Sulfonylureas first line for MODY1 and 3, no treatment needed for MODY2 usually

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12
Q

Features of MEN1

A

Neoplasia/ hyperplasia of the pancreas, parathyroid gland and anterior pituitary

  • Hyperparathyroidism
  • Pancreatic tumour
  • Pituitary tumours, commonly prolactinomas
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13
Q

Features of APECED/ Autoimmune polyglandular syndrome 1 (AIRE gene mutation)

A
  • Oral and nail candida
  • Hypoparathyroidism
  • Addisons disease
    +/- alopecia, vitiligo and DM
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14
Q

Gene mutation causing pseudohypoparathyroidism (PTH resistance)?

A

GNAS mutation on chromosome 20q13 (maternal imprinting)

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15
Q

Features of MEN2a

A

Pheochromocytoma
Medullary thyroid cancer
Hyperparathyroidism

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16
Q

Features of MEN2b

A

Pheochromocytoma
Medullary thyroid cancer

(no hyperparathyroidism)

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17
Q

Mutation in Calcium sensing receptor (CaSR) -> high serum Ca+, low urinary Ca+ and inappropriately normal PTH?

A

Familial Hypocalciuric Hypercalcemia

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18
Q

Management of X-linked hypophosphatemic rickets?

A

Phosphate supplement (split dosing as much as possible to avoid phosphate peaks which cause secondary hyperPTH)
Calcitriol (1,25 vit D)
Burosumab (mab against FGF23 which is upregulated in this condition)

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19
Q

Cause of short stature in Turner syndrome

A

Absence of SHOX gene on X chromosome. Need 2 copies to have normal stature

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20
Q

How to distinguish central from peripheral precocious puberty?

A

Basal LH usually <0.3 in peripheral, >0.3 in central
LH:FSH ratio >1.0 is usually central
GnRH stimulation test can be done - will see an increase in LH to >5 with central PP

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21
Q

Features of McCune Albright Syndrome

A
  • Cafe au lait macules (coast of Maine)
  • Precocious puberty
  • > presents with early PV bleeding at age 3-4 in girls (Initially GIPP then GDPP)
  • Fibrous dysplasia of skeletal system, often asymmetric
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22
Q

Predisposing factors for T1DM

A
  • HLA DR3 and DR4 (2-3x)
  • HLA B8 and HLA-BW15
  • f
23
Q

What is the “honeymoon period” in T1DM?

A

Period of residual beta cell function, commonly in early months after diagnosis (residual beta cells can still make insulin)
Will usually have good glycaemic control with minimal insulin requirements

24
Q

What is the “dawn phenomenon” in T1DM?

A

Normal occurrence of increased BGL between 4-7am with no preceding hypoglycaemia. It is a transient mild insulin resistance due to nocturnal GH secretion

25
Q

Features of metabolic syndrome

A

Obesity (BMI >97th %ile)
Insulin resistance
Hypertension (BP >90th %ile)
Abnormal lipid profile (high trigs, low HDL)

26
Q

Best test and management of CF-related DM

A

OGTT
Insulin

27
Q

Management of adrenal crisis?

A
  1. Fluid bolus (0.9%NaCl)
  2. IVT with 5% glucose + 0.9% NaCl
  3. Hydrocortisone stress dose (50-100mg/m2) - has mineralocorticoid action also then taper hydrocortisone to physiologic requirements (6-8mg/m2)
  4. Can continue usual PO daily fludrocortisone dose (dose not need to be increased for stress)
28
Q

Features of 21 hydroxylase deficiency

A

Low cortisol -> hypoglycaemia
Low aldosterone -> salt wasting (hyponatremia) and hyperkalemia
Excess testosterone shunting -> virilisation in females

29
Q

Features of 3 beta hydroxysteroid dehydrogenase deficiency CAH

A

Low cortisol
Low aldosterone -> salt wasting in boys and girls
Low testosterone but high DHEA
- incomplete virilisation and hypospadias in M
- mild virilisation in F
- early pubic and axillary hair d/t DHEA

30
Q

Features of 11 beta hydroxylase deficiency

A

Low cortisol
High mineralocorticoids (because deoxycorticosterone accumulates and this has mineralocorticoid activity) -> salt retention and hypertension
High testosterone -> virilisation

31
Q

Most common cause of Cushing syndrome?

A

Iatrogenic (excess corticosteroids)

32
Q

What causes Klinefelter syndrome

A

47 XXY
Occurs due to meiotic non-dysfunction with extra chromosome coming from the mother in 50% and coming from the father in 50%
Advanced maternal age is a RF

33
Q

Hypogonadotrophic hypogonadism and anosmia

A

Kallman syndrome

34
Q

What would you expect on bloods in 21 hydroxylase deficiency?

A

Elevated 17 OH progesterone
High renin
Aldosterone inappropriately low
Salt wasting:
- Low Na+
- High K+

35
Q

What is the most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis (abnormal thyroid gland development) resulting from agenesis, ectopia or hypoplasia …

with ectopia making up 2/3

36
Q

Sensorineural hearing loss and goitre (with or without hypothyroidism)

A

Pendred syndrome (AR)
- due to lack of pendrin protein

37
Q

Newborn screening doesn’t detect hypothyroidism caused by…

A

central hypothyroidism (screening tests for high TSH)

38
Q

Management of hyperthyroidism

A

Carbimazole for 2-3yrs
- prevents TPO enzyme from coupling and iodinating the tyrosine residues on thyroglobulin -> reduced production of T3 and T4.

Beta blocker eg atenolol (block peripheral conversion of T3-T4) for 2-6wks

Radical treatment if no remission after >2yrs: radioactive iodine or thyroidectomy

Aim to get T4 to normal range

39
Q

Management of Klinefelter syndrome

A

Need lifelong testosterone (remember they have Primary hypogonadism)

40
Q

Genetic defect causing Noonan Syndrome?

A

Defect in PTPN 11 gene on chromosome 12q24

AD trait but has variable expression

41
Q

Features of Bardet-Biedl syndrome

A
  • Retinitis pigmentosa (causes night blindness and tunnel vision/loss of peripheral vision)
  • Obesity
  • ID
  • Hypogonadism
  • Polydactyly
  • Renal defects (various)
42
Q

Presentation of Prader Willi syndrome

A
  • Hypotonia, weak cry at birth
  • Initially FTT then obesity due to hyperphagia
  • Low IQ
  • Small penis with cryptorchidism
  • Small hands and feet
  • Hypogonadism
43
Q

Features of Turners Syndrome

A
  • Short stature (100%)
  • Webbed neck, low posterior hairline
  • Small mandible
  • Prominent ears
  • Broad chest with widely spaced nipples
  • Cubitus valgus
  • Distal radioulnar subluxation (Madelung deformity)
  • Shortening of the 4th metatarsals + metacarpals
  • Cardiac: bicuspid aortic valve (~50%), coarctation of Aorta (20%)
  • Pelvic kidney or horseshoe kidney or double collecting system
  • Hypogonadism (10-20% can have breast development)
  • Autoimmune disease: thyroid disease (10-20%), coeliac disease
  • SNHL
  • Recurrent otitis media
44
Q

How can you differentiate between Turners Syndrome and Noonan Syndrome?

A

Turners typically have normal IQ (IQ reduced in Noonan syndrome)
Turners causes R-sided cardiac defects (bicuspid aortic valve, CoA) whereas Noonan causes L-sided cardiac defects (eg PS)

Karyotype abnormal in Turners (usually 45X0), will be normal in Noonans

45
Q

Features of complete androgen insensitivity (46 XY DSD)?

A
  • Female external genitalia (due to resistance to testosterone and no formation of Wolffian ducts)
  • Intra abdominal testes and no internal female genital organs
  • Normal testosterone levels
  • Breast development during puberty but no menses (obviously) or adrenarche (due to androgen resistance)
46
Q

What do WAGR, Deny-Drash and Frasier syndromes all have in common?

A

All caused by mutations in the WT1 gene which is involved in gonadal and renal development. They can all cause:

  • 46 XY DSD with ambiguous genitalia
  • Renal disease (diffuse mesangial sclerosis in DD, FSGS in Frasier)
  • Increased risk of gonadoblastoma

WAGR and Denys-Drash also at increased risk of Wilms tumour

47
Q

What are the 3 features of septo-optic dysplasia

A
  1. Optic nerve abnormalities (hypoplasia of nerve or absence of optic chiasm)
  2. Agenesis or hypoplasia of corpus callosum and/or septum pellucidum
  3. Anterior and/or posterior hypopituitarism
48
Q

What could you expect to find with an ectopic posterior pituitary bright spot?

A

Commonly causes anterior pituitary deficiencies. May present with panhypopituitarism or GH deficiency

49
Q

Which agents could be used in a growth hormone stimulation test?

A

Clonidine, levodopa, insulin, glucagon or arginine

50
Q

How do you differentiate SIADH from cerebral salt wasting

A

Both have hyponatremia

SIADH
- Euvolemia
- Low urine output
- Low urine Na+
- High ADH
- Normal ANP

Cerebral salt wasting (Due to over secretion of ANP)
- Hypovolemia
- High urine output
- High urine Na+
- Low ADH
- High ANP

51
Q

Management of SIADH

A
  • Fluid restriction
  • Hypertonic saline if severe, symptomatic or resistant hyponatremia
  • Tolvaptan (ADH receptor antagonist)
  • Urea crystals
52
Q

What is calcitriol?

A

Activated vitamin D: 1,25 (OH)2 vit D

25OH vit D (circulating form) -> converted to 1,25(OH)2 vit D by 1 alpha hydroxylase in the kidney (which is stimulated by PTH)

53
Q
A

Paeds BPT Written Exam (18 decks)

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