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BPT exams > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

In T1DM

Which is the most common antibody seen in a young child?

Which is the most common antibody seen in an older child?

A

Insulin autoantibody in younger children

Glutamic acid decarboxylase (GEA) antibody in older children

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2
Q

How does Diazoxide work?

A

Diazoxide opens ATP-dependent potassium channels on pancreatic beta cells in the presence of ATP and Mg2+, resulting in hyperpolarization of the cell and inhibition of insulin release

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3
Q

Adrenal hypoplasia affects mainly boys and is due to abnormalities in which gene?

A

DAX1 gene

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4
Q

_________ antibodies (TPOABs) and ________ antibodies demonstrable in 90% children with lymphocytic thyroiditis and in many with Graves

A

Thyroid antiperoxidase antibodies (TPOABs) and antithyroglobulin antibodies

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5
Q

Hashimotos thyroiditis/lymphocytic thyroiditis is associated with which AI disorders?

A

Type 1 polyglandular syndrome:

(2 of the triad of hypoparathyroidism, Addisons Disease and mucocutaneous candidiasis -> HAM disease)

and

Type 2 APS (Schmidt syndrome)

Addison’s, T1DM and Thyroiditis

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6
Q

TPO antibodies are found in __% with T1DM

A

20%

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7
Q

Children with _____, ____ and ____ syndromes are at increased risk for AI thyroid disease

A

Children with Down, Turners and Klinefelters syndromes are at increased risk for AI thyroid disease

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8
Q

Which medication can commonly cause hypothyroidism?

A

Amiodarone- it consists of 27% iodine by weight

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9
Q

Pharyngeal arches are made of ________

Pharyngeal cleft are made of____

Ectoderm or mesoderm or endoderm

A

Arches - mesoderm

Cleft - ectoderm

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10
Q

1st pharyngeal arch typically forms structures important for ______

A

Chewing!

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11
Q

Thyroglobulin is synthesised by _______ cells and secreted into the _________

A

Synthesised in the follicular cell and secreted into the colloid

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12
Q

Iodine is pumped into the colloid through the ______ channel

A

Pendrin

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13
Q

In the colloid Iodide is oxidased to Iodine by ______

A

Thyroperoxidase

Helps make T3 and T4

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14
Q

T_ is more active and has a half life of ____

A

T3 - half life of 1-2 days

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15
Q

T_ is the predominant secreted hormone and T_ is more active

A

T4 predominant, but T3 most active

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16
Q

Very brief TSH surg on day __

A

D0-1 of life (40 weeks gestation)

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17
Q

Complications from neonatal Graves is _______

A

Craniosynostosis

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18
Q

What has the fastest treatment for neonatal hyoerthyroidism?

A

Lugol’s Iodine

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19
Q

Pendrin syndrome is an autosomal recessive disorder associated with ______

A

Pendrin channel is the deficit

Mild to moderate hypothyroidism, goitre, sensorineural hearing loss

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20
Q

Delayed TSH surge (in congenital hypothyroidism) can be seen in _______.

TSH suppression can also be seen with ______

A

Monozygotic twins

Dopamine and other ionotropes can also suppress TSH

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21
Q

What would be the diagnostic test for consumptive hypothyroidism?

A

Elevated reverse T3

Naemangiomas can produce Type 3 deiodinase whcih facilitates the conversion of T4 -> reverse T3

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22
Q

Which syndrome….?

Severely increased TSH results in the alphasubinit activating LH receptor as well as the TSH recepor.

Very high TSH from the hypothyroidism, increases the LH and results in polycystic ovaries

A

Van Wyk Grumbach syndrome

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23
Q

An IGSF1 (a loss of function) mutation results in ____

A

Isolated central hypothyroidism - X linked Recessive

Other features may be delayed onset puberty, late onset macroorchidism, variable prolactinaemia

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24
Q

What are some features used to score thyroid storm?

A

Temperature, CNS effects, GI dysfunction, Cardiac dysfunction (tachycardia, congestive heart failure, atrial fibrillation)

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25
Q

Male , with developmental delay, congenital hypotonia, and general muscle weakness.

TFT’s show slightly raised T3 and normal TSH…. what is the syndrome?

A

Allan-Herndon-Dudley Syndrome (MCT8 channel defect)

Xlinked condition, Abnormality in channel for thyroid hormone in neurons

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26
Q

What is the most common long term complication of cranial irradiation?

A

Growth hormone deficiency

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27
Q

What are factors that decrease GH secretion?

A

Obesity, psychosocial deprivation, excess glucocorticoids, carbohydrates

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28
Q

GH deficiency leads to abnormally slow ______

Other features?

A

Growth velocity and often have increased adiposity.

Other features - Hypoglycaemia and small penis in babies

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29
Q

Where is IGF-1 produced?

A

The liver

IGF-1 reduced in malnutrition and increased with obesity

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30
Q

How does hypothyroidism impact growth?

A
  • Reduced chondrocyte division at epiphyseal plate

- Marked GH and markedly reduced IGF-1 secretion

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31
Q

How do you calculate midparental height for a boy?

A

(Dad’s height + mother’s height +13cm)/2

Range +/- 8cm

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32
Q

Height velocity in boys peaks at?

A

~13-14 years (7-12cm/year)

Girls 11-12 yr

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33
Q

Best screening test for growth is?

A

Height velocity - it is above 25th centile, there is not growth failure - hormone levels should be okay

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34
Q

How do you do formal GH testing?

A

A normal IGF-1 makes GH deficiency unlikely

But typically you do a stimulation test with - Arginine (protein), Clonidine (sleepy), insulin, and glucagon

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35
Q

Short stature, craniofacial and body asymmetry, low birthweight, microcephaly, triangular facies, 5th finger clinodactyly, congenital cardiac defects

A

Russell-Silver Syndrome

36
Q

__% with Turner syndrome will have short stature as their only feature

A

50%

37
Q

SHOX gene is found on which genes?

A

Is found on the X and Y gene; it is expressed in chondrocytes and abnormality leads to reduced growth

Having a missing chromosome i.e. Turners syndrome - reduced growth

Kleinfelters - XXY - increased growth

38
Q

Common side effects of GH treatment?

A
  • T2DM
  • Benign intracranial hypertension
  • In PWS -> worsens OSA (must have PSG prior
  • SUFE
  • Scoliosis
  • Malignancy
39
Q

Which medication is used to suppress excess glucocorticoid production?

A

Ketoconazole - inhibition of adrenal 11 beta-hydroxylase and 17,20-lyase

40
Q

Antimullerian hormone is secreted by _______

Testosterone is secreted by _______

A

AMH secreted by Sertoli cells

Leydig cells secrete testosterone

41
Q

SRY codes for release of _______ which triggers the male reproductive system

A

Release of testis determining factor

42
Q

Mesonephric (wolfian) duct gives arise to _____ reproductive system

Paramesonephric duct (Mullerian) gives rise to ______ reproductive system

A

Wolfian - male (epididymus, vas deferens, seminal vesicle)

Mullerian - female (uterus, fallopian tube and upper vagina)

43
Q

In males, ________ causes the mullerian duct degenerates into appendix testes.

This happens in week _

A

The mullerian inhibiting hormone.

Testosterone needed for Wolfian duct to progress into vas deferens

This happens in week 7

44
Q

What is the role of Dihydrotestosterone?

A

Masculinises the male genitalia

45
Q

Phenotypical differentiation of external genitalia happen at week ___

A

After week 12

46
Q

In females, the gubernaculum becomes __________ and ________

A

The superior portion - ovarian ligament - anchoring the ovaries

The inferior portion - round ligament - connecting the uterus to labia majora

47
Q

In males,

  • LH stimulates leydig cells to produce ____
  • FSH stimulates sertoli cells to produce ____
A

Leydig cells -> testosterone

Sertoli cells -> Sperm

48
Q

Tanner scale?

A

Male:
I: prepubertal
II: Soft pubic hair, slight enlargement of testes
III: Pubic hair becomes coarse, penis and testes enlarges
IV: Penis begins to widen

Female:
I: prepubertal
II: Soft pubic hair, some breast buds
III: Coarse pubic hair, breast mounds
IV: Pubic hair spreads
49
Q

What is the order?

Menarche, thelarche, adrenarche?

A

1) Thelarche
- increased oestrogen -> breast development
2) Adrenarche
- Assoc with increased androgens
3) Menarche
- Increased oestrogens -> menses
- ~2.5yr after thelarche

50
Q

Which gene is associated with Denys-Drash?

A

WT gene

51
Q

Why does descended gonads mean male?

A

Because, testes descend and ovaries don’t.

Testicular tissue produces testosterone, which has paracrine effects to allow the testes to descend. This indicates the presence of SRY gene.

52
Q

How do you differentiate Frasier syndrome and Denys-Drash?

A

Both are caused by mutations of WT1 gene and present with DSD and proteinuria.

Denys-Drash syndrome: renal failure with mesangial sclerosis, assoc. with bilateral Wilm’s tumour and gonadoblastoma

Frasier syndrome: FSGS, mutation in intron 9 and gonadoblastoma. NOT assoc with Wilm’s tumour

53
Q

Which enzyme deficits in CAH are going to be associated with undervirilisation in males?

A

17 alpha , sTAR , 3Beta-HSD (partially)

54
Q

Which enzyme deficit in CAH is going to cause hypertension?

A

CYP11B1

55
Q

In CAH 21 hydroxylase deficiency - you get a build up of?

A

17-hydroxyprogresterone

56
Q

Neonatal diabetes is caused by which mutation?

A

Glucokinase

57
Q

Which insulin is used in the insulin pump?

A

Aspart, Lispro (Rapid acting)

58
Q

What is the effect of GLP-1 on glucose metabolism?

A

Glucagon-like peptide receptor:

  • Increase insulin secretion (but less likely to have hypoglycaemia)
  • Stimulate glucose-dependent insulin release iselt cells (also slow gastric emptying, inhibit glucagon release and reduce food intake)
59
Q

Name 4 conditions that can reduce the red blood cell survival and falsely decrease HbA1C values?

A 
Blood loss
Haemolytic anaemia 
Splenomegaly
End stage renal disease
Pregnancy
60
Q

Name 4 condition that can decrease red cell turnover and can falsely increase values of HbA1C?

A

Iron def anaemia
Uraemia
Raised triglycerides or bilirubin
Chronic alcohol, opioids and salicylate

61
Q

Which type of MODY is least likely to have diabetic complications?

A

MODY 2

Often incidental finding of mild hyperglycaemia and rarely associated with complications - glucokinase

62
Q

Which hormone is most sensitive to radiation?

A

Growth hormone

GH > Gonadotrophins (LH) > ACTH > TSH

63
Q

Cortisol elevated with an intermediate (5 to 20) or normal/high ACTH:

Is this ACTH Dependent or
ACTH independent?

A

ACTH Dependent

(this includes Cushing’s disease)

You may also see hyperpigmentation

64
Q

What is the reason for hypertension in 11 beta hydroxylase deficiency?

A

11 deoxycortisol

65
Q

Which 2 congenital adrenal hyperplasia cause hypertension?

A

11 beta hydroxylase

17 alpha hydroxylase

66
Q

Ledig cells are stimulated by which hormone?

A

Luteneising hormone

but early in pregnancy (first trimester) - bHCG is responsible

(beta HCG and LH have similar structure)

67
Q

StAR mutation leads to….

A

Lipoid CAH -> lipid accumulation in adrenocortical cells

(Severe glucocorticoid and mineralocorticoid deficiency)

Presents as female in both XX or XY

68
Q

Somatic (or mosaic) mutation in GNAS1 leads to

A

McCune Albright syndrome

69
Q

What disorder of sexual development does McCune Albright leads to ?

A

Precocious puberty (gonadotropin-independent)

70
Q

What is the inheritance pattern of complete androgen insensitivity syndrome?

A

X-Linked recessive inheritance

Mutation in androgen receptor gene

71
Q

What is the second most common type of CAH and what is the most common presentation?

A

11-beta hydroxylase

Hypertension and virilisation

72
Q

Why do you get hypertension in 11-beta hydroxylase deficiency?

A

11-Deoxycortisol has mineralorticoid effect

73
Q

In a male, Tanner stage 2 correlates to:

A

Testicular enlargement and some very mild pubic hair development

74
Q

Pubic hair is more related to Tanner stage __

A

3 (but does start at stage 2)

75
Q

How do you differentiate peripheral precocious puberty vs benign adrenarche

A

Precocious puberty has both adrenarche and thelarche

76
Q

Side effects of PTU?

A

Severe hepatotoxicity, agranulocytosis, hepatitis, vasculitis

77
Q

How is sublingual ectopic thyroid gland diagnosed?

A

Technetium scan

Radio-131-iodine scan - used for ablation

78
Q

Hypophosphatemic rickets and Dent’s, which is more common in boy vs girl?

A

Dent disease: More likely in boys because X linked recessive

X linked hypophosphatemia is equal in both (X linked dominance)

79
Q

How is the Vit D best stored in the body?

A

D3 (25, hydroxylase)

1,25 is used up very fast

80
Q

Which cell in the pancreas produces glucagon?

A

Alpha cells

81
Q

Short long bones, madelung deformity, muscle hypertrophy, genu valgum, increased carrying angle…

Which syndrome?

A

Leri-Weill Dyschondosteosis

82
Q

Difference between constitutional delay vs poor spinal growth (in a child that has had radiation)

A

In constitutional delay there is a delayed bone age

83
Q

What common endocrinological anomaly does Vincristine cause?

A

SIADH - hyponatraemic hypervolaemic (or euovlaemic)

84
Q

Which cells produce AMH?

A

Sertoli cells

testosterone made by Leydig cells

85
Q

How does OCP help with PCOS?

A

Androgens cause SHBG to fall

BPT exams (24 decks)

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