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1RCPCH TAS > Endocrinology > Flashcards

Endocrinology Flashcards

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1
Q

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

A

GnRH agonist

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2
Q

What are the typical calcium, PTH and phosphate levels in pseudohypoparathyroidism?

A

Low calcium
High phosphate
High PTH

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3
Q

What causes pseudohypoparathyroidism?

A

Genetic defect in the PTH receptor - GNAS1 gene

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4
Q

What causes complete androgen insensitivity syndrome?

A

Loss-of-functions mutations in the androgen-receptor gene

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5
Q

What phenotype does complete androgen insensitivity cause?

A

Normal female habitus externally with absence of internal female structures
Gonads do not descend but may herniate or be diagnosed at puberty with primary amenorrhoea

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6
Q

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

A

Oestrogen

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7
Q

What disorder is associated with anosmia, obesity and hypogonadotropic hypogonadism?

A

Kallmann syndrome

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8
Q

What is the inheritance pattern of Kallmann syndrome?

A

X-linked recessive

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9
Q

What is the treatment for Kallmann syndrome?

A

HCG or testosterone

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10
Q

How is the mid-parental height used to calculate the expected height for a boy?

A

Mean value of parental heights plus 7

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11
Q

How is the mid-parental height used to calculate the expected height for a girl?

A

Mean value of parental heights minus 7

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12
Q

What is the mechanism of action of the OCP?

A

Suppressions of ovarian stimulation

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13
Q

What aspect of the adrenal gland is controlled by ACTH?

A

Zona fasciculata

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14
Q

What structure releases ACTH?

A

Anterior pituitary

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14
Q

Which hormone is responsible for releasing ACTH?

A

CRH - corticotropic releasing hormone

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15
Q

Which structure releases CRH?

A

Hypothalamus

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16
Q

What is released by the zona fasciculata?

A

Cortisol

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17
Q

What does cortisol do?

A

Promotes gluconeogenesis and glycogenolysis
Increases fat and protein breakdown
Suppresses immune system

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18
Q

What happens to the zona fasciculata in Cushing’s disease?

A

It is constantly activated so becomes hypertrophied

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19
Q

Which vasoactive agent has the highest affinity to bind to alpha 1, beta 1 and beta 2 receptors?

A

Epinephrine

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20
Q

In what pattern is cortisol secreted?

A

Circadian pattern

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21
Q

Which mutation is associated with MEN type II

A

RET

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22
Q

What neoplasms are associated with MEN type II?

A

Medullary thyroid carcinoma
Phaeochromocytoma
Hyperparathyroidism

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23
Q

How is MEN II inherited?

A

AD

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24
Which mutation is associated with X-linked hypophosphatemia?
PHEX gene
25
What are the expected blood results in X-linked hypophosphataemia?
Normal calcium Mildly elevated PTH Low phosphate
26
Which condition shows an ability to concentrate urine in response to desmopressin, but not concentrate the urine following a water deprivation test?
Central diabetes insipidus
27
What is the underlying issue in cranial DI?
Deficiency of vasopressin
28
What is the underlying issue in nephrogenic DI?
Resistance to vasopressin
29
What is the most common deficiency causing CAH?
21-hydroxylase
30
What is the likely cause in a clinical picture of longstanding short stature, precocious puberty and delay in bone age?
Primary hypothyroidism
30
What would happen to 11-deoxycortisol levels in CAH caused by 21-hydroxylase deficiency?
Reduced
31
What is the karyotype in 5-alpha-reductase deficiency?
46XY
31
In a water deprivation test, at what plasma Osm can a diagnosis of DI be given in the face of inappropriately dilute urine?
>290mOsmol/kg
32
90% of patients with Hashimoto's thyroiditis test positive for which antibody?
Thyroid peroxidase antibodies
32
The thyroid gland is embryologically formed from an outpouching of which structure?
Median surface of pharyngeal floor
32
What is the classical triad of presenting features in McCune-Albright syndrome?
Cafe au lait macules Polyostotic fibrous dysplasia Autonomous endocrine gland dysfunction (e.g. precocious puberty)
33
Which syndrome is associated with gynaecomastia and small volume testes compared to outward appearance?
Klinefelter syndrome
33
What gene mutation is associated with McCune-Albright syndrome?
GNAS
34
At what stage do children with primary GH deficiency typically display a difference in growth?
After 6 months of life
35
Which receptor mediates the action of vasopressin?
GPCR
35
In a hypothalamic disorder causing hypogonadotropic hypogonadism what would you expect the response in LH and FSH from short and chronic stimulation with GnRH?
Minimal response to short and normal response to chronic
35
What autoantibodies are associated with 70% cases of Grave's disease?
TPO autoantibodies
36
What is the cellular location of G-protein coupled receptors?
In the cell membrane
37
What are an inhibitor of both GH an GHRH?
Glucocorticoids
38
Which is the first catecholamine synthesised from DOPA?
Dopamine
39
Which form of CAH is characterised typically by hypertension, ambiguous genitalia and hypokalaemia?
11-beta-hydroxylase deficiency
40
What is the first sign of puberty in girls?
Breast bud enlargement
41
What lab test is used to diagnose 21-hydroxylase deficiency?
17-Hydroxyprogesterone
41
When does puberty usually start in girls?
9-12 years old
41
What is the best screening test for central precocious puberty?
LH and FSH
42
What would you expect the LH and FSH levels to be in central precocious puberty?
LH >10 FSH >7
43
What would you expect the LH and FSH levels to be in peripheral precocious puberty?
LH <2 FSH <3
44
Which structure does vasopressin exert it's effects on mainly?
Collecting duct
45
PCOS can be diagnosed by the presence of 2 of which 3 features?
Oligo/amenorrhoea PCO on USS Clinical or biochemical evidence of hyperandrogenism
46
What measurement can biochemically confirm hyperandrogenism?
DHEAS levels or testosterone
47
What does a lack of response to desmopressin in diabetes insipidus indicate?
Nephrogenic DI
48
What is the first sign of puberty in males?
Increase of testicular volume >4ml
49
At what age does puberty typically start in males?
12-13 years
50
What are the typical blood results in Dietary Vit D deficiency? Ca, PO4, ALP, PTH, VitD
Ca - Low/N PO4 - Low/N ALP - High/N PTH - High/N Vit D - Low
51
What are the typical blood results in Vitamin D dependent rickets? Ca, PO4, ALP, PTH, VitD
Ca - Low PO4 - Low ALP - High PTH - High Vit D - N
52
What are the typical blood results in Hypophosphataemic rickets? Ca, PO4, ALP, PTH, VitD
Ca - N PO4 - Low ALP - High PTH - N/Low/High Vit D - N
53
How do children typically present with Vitamin-D dependent rickets?
Seizures and tetany related to hypocalcaemia Faltering growth Hypotonia Recurrent fractures and bone pain
54
What is the urine output typically like in SIADH?
Passing small amounts of concentrated urine
55
What are the 4 classic features of phaeochromocytoma?
Headache Palpitations Diaphoresis Hypertension
56
How do boys with 21-hydroxylase deficiency typically present?
Sal-losing crisis
57
What is the gold standard test for distinguishing excessive ACTH secretion from the pituitary gland from ectopic ACTH secretion?
Inferior Petrosal Sinus Sampling (IPSS)
58
How is an IPSS test performed?
Measuring ACTH before and after CRH administration
59
In which state is the majority of thyroid hormone circulated in the blood?
Bound to thyroxine binding globulin
60
In what pattern is prolactin secreted?
Sleep-related secretion
61
What form of CAH is the most likely in a teenage girl with primary amenorrhoea and delayed puberty?
17-hydroxylase deficiency (partial)
62
What is the test of choice in growth hormone insufficiency?
Glucagon provocation test
63
Which hormones are released by the posterior pituitary gland?
ADH Oxytocin
64
Which hormones are released by the anterior pituitary gland?
ACTH GH Prolactin TSH

1RCPCH TAS (3 decks)

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