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1MRCPCH FOP and TAS > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Which form of CAH presents with hypertension, ambiguous genitalia and hypokalaemia?

A

11-Beta-hydroxylase deficiency

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2
Q

What genetic mutation is associated with McCune-Albright syndrome?

A

GNAS gene mutation - chromosome 20 at 13.3

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3
Q

What is the hallmark feature of diabetes insipidus?

A

Inability to concentrate urine

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3
Q

What would happen following a water depreivation test to the plasma and urine osmolality in diabetes insipidus?

A

Plasma rises
Urine remains dilute

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3
Q

What is the first sign of puberty in males?

A

Testicular volume increase >4ml

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3
Q

What is the typical blood profile in pseudohypoparathyroidism?

A

Low calcium
High phosphate
High PTH

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3
Q

What is the typical blood profile in vitamin D deficiency?

A

Low calcium
Low/Normal phosphate
High ALP

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4
Q

What is the typical blood profile in hypoparathyroidism?

A

Low calcium
High phosphate
Low PTH

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4
Q

What typically causes pseudohypoparathyroidism?

A

Genetic defect in the receptor for PTH

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5
Q

What mediates the action of vasopressin?

A

GPCR

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5
Q

How is growth hormone deficiency tested for?

A

Stimulated hormone test
GH levels tested before and after a glucagon dose
- normal response would be GH increase

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5
Q

What is the first catecholamine synthesised from DOPA?

A

Dopamine

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5
Q

Which hormone is most responsible for epiphyseal fusion and cessation of growth?

A

Oestrogen

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5
Q

What are the characteristic hand a face features of pseudohypoparathyroidism type Ia

A

Short 4th and 5th metacarpals
Rounded face

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6
Q

What mutation is associated with X-linked hypophosphataemia?

A

PHEX gene mutation

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6
Q

Which hormone is elevated in PCOS?

A

Testosterone

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6
Q

What are the presenting features of PCOS?

A

Secondary amenorrhoea
Hirsutism
Obesity
Acne

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6
Q

What is the characteristic presentation of X-linked hypophosphataemia?

A

Low phosphate, normal calcium and mildly high PTH
Bowing of legs
Growth retardation
Dental anomalies

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6
Q

What do glucocorticoids do to the secretion of growth hormone?

A

Inhibits GH secretion by suppression of GHRH expression

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7
Q

What tumours are typically associated with MEN type 2?

A

Adrenal pheochromocytoma
Medullary thyroid cancer
Parathyroid hyperplasia/adenoma - hyperparathyroidism

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8
Q

What mutation is associated with MEN2?

A

RET proto-oncogene

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8
Q

How is MEN2 inherited?

A

AD

9
Q

What causes nephrogenic diabetes insipidus?

A

Renal tubules resistant to ADH - due to defect of vasopressin-2 receptor or post-receptor defect in aquaporin-2

10
Q

Would sex hormone binding globulin be high or low in PCOS?

A

Low

10
Q

Which hormones are associated with the posterior pituitary?

A

Oxytocin
ADH

10
Q

Which hormones are associated with the anterior pituitary gland?

A

ACTH
GH
Prolactin
TSH

10
Q

What are the symptoms of Kallmann syndrome?

A

Anosmia
Obesity
Hypogonadotrophic hypogonadism

10
Q

What is the treatment of choice for idiopathic central precocious puberty?

A

GnRH agonist - creates feedback loop

11
Q

What IPSS result would suggest Cushing’s disease?

A

Ratio >2:1 at baseline or >3:1 after CRH administration

11
Q

What blood results are typically seen in 17-alpha-hydroxylase deficiency?

A

High deoxycortisol and cortisone
Low cortisol, androgen and oestrogen

11
Q

What is the method of inheritance of Kallmann syndrome?

A

X-linked recessive

11
Q

What is the treatment of Kallmann syndrome?

A

HCG or testosterone to restore pubertal development

11
Q

Where does ADH (vasopressin) exert it’s effects within the nephron?

A

Collecting ducts - increases water permeability

12
Q

Does a rise in urine osmolality following desmopressin suggest cranial or nephrogenic DI?

A

Cranial

12
Q

What is the gold standard test for differentiating excessive ACTH secretion from pituitary vs ectopic source?

A

Inferior petrosal sinus sampling - involves samples before and after CRH given compared to peripheral blood

13
Q

What hepatic side effect can carbimazole cause?

A

Cholestatic liver injury - pruritus, jaundice, pale stool and dark urine

13
Q

At what level would a defect be in hypogonadotropic hypogonadism?

A

Hypothalamus or pituitary gland

14
Q

What results would be expected in short and chronic stimulation by GnRH in a hypothalamic cause of hypogonadotropic hypogonadism?

A

No response to short stimulation
Normal response following chronic stimulation

15
Q

What is the best test to perform to diagnose central precocious puberty?

A

FSH and LH before and after GnRH administration - would expect LH >10 and FSH >7

16
Q

What would you expect with urine output in SIADH?

A

Small amounts of concentrated urine

17
Q

In which state is the majority of thyroid hormone circulated within the blood?

A

Bound to thyroxine-binding globulin

18
Q

Which vasoactive agent has the highest affinity towards A1, B1 and B2 receptors?

A

Epinephrine

19
Q

How does 11-b-hydroxylase deficiency present?

A

Hypertension
Ambiguous genitalia
Hypokalaemia
Older children present with peripheral precocious puberty

20
Q

How does partial 17-alpha-hydroxylase deficiency present?

A

Primary amenorrhoea and delayed puberty

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1MRCPCH FOP and TAS (23 decks)

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