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Endocrinology Flashcards

(85 cards)

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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
Male , with developmental delay, congenital hypotonia, and general muscle weakness. TFT's show slightly raised T3 and normal TSH.... what is the syndrome?
Allan-Herndon-Dudley Syndrome (MCT8 channel defect) | Xlinked condition, Abnormality in channel for thyroid hormone in neurons
26
What is the most common long term complication of cranial irradiation?
Growth hormone deficiency
27
What are factors that decrease GH secretion?
Obesity, psychosocial deprivation, excess glucocorticoids, carbohydrates
28
GH deficiency leads to abnormally slow ______ Other features?
Growth velocity and often have increased adiposity. Other features - Hypoglycaemia and small penis in babies
29
Where is IGF-1 produced?
The liver IGF-1 reduced in malnutrition and increased with obesity
30
How does hypothyroidism impact growth?
- Reduced chondrocyte division at epiphyseal plate | - Marked GH and markedly reduced IGF-1 secretion
31
How do you calculate midparental height for a boy?
(Dad's height + mother's height +13cm)/2 Range +/- 8cm
32
Height velocity in boys peaks at?
~13-14 years (7-12cm/year) | Girls 11-12 yr
33
Best screening test for growth is?
Height velocity - it is above 25th centile, there is not growth failure - hormone levels should be okay
34
How do you do formal GH testing?
A normal IGF-1 makes GH deficiency unlikely But typically you do a stimulation test with - Arginine (protein), Clonidine (sleepy), insulin, and glucagon
35
Short stature, craniofacial and body asymmetry, low birthweight, microcephaly, triangular facies, 5th finger clinodactyly, congenital cardiac defects
Russell-Silver Syndrome
36
__% with Turner syndrome will have short stature as their only feature
50%
37
SHOX gene is found on which genes?
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
Common side effects of GH treatment?
- T2DM - Benign intracranial hypertension - In PWS -> worsens OSA (must have PSG prior - SUFE - Scoliosis - Malignancy
39
Which medication is used to suppress excess glucocorticoid production?
Ketoconazole - inhibition of adrenal 11 beta-hydroxylase and 17,20-lyase
40
Antimullerian hormone is secreted by _______ Testosterone is secreted by _______
AMH secreted by Sertoli cells Leydig cells secrete testosterone
41
SRY codes for release of _______ which triggers the male reproductive system
Release of testis determining factor
42
Mesonephric (wolfian) duct gives arise to _____ reproductive system Paramesonephric duct (Mullerian) gives rise to ______ reproductive system
Wolfian - male (epididymus, vas deferens, seminal vesicle) Mullerian - female (uterus, fallopian tube and upper vagina)
43
In males, ________ causes the mullerian duct degenerates into appendix testes. This happens in week _
The mullerian inhibiting hormone. Testosterone needed for Wolfian duct to progress into vas deferens This happens in week 7
44
What is the role of Dihydrotestosterone?
Masculinises the male genitalia
45
Phenotypical differentiation of external genitalia happen at week ___
After week 12
46
In females, the gubernaculum becomes __________ and ________
The superior portion - ovarian ligament - anchoring the ovaries The inferior portion - round ligament - connecting the uterus to labia majora
47
In males, - LH stimulates leydig cells to produce ____ - FSH stimulates sertoli cells to produce ____
Leydig cells -> testosterone | Sertoli cells -> Sperm
48
Tanner scale?
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
What is the order? Menarche, thelarche, adrenarche?
1) Thelarche - increased oestrogen -> breast development 2) Adrenarche - Assoc with increased androgens 3) Menarche - Increased oestrogens -> menses - ~2.5yr after thelarche
50
Which gene is associated with Denys-Drash?
WT gene
51
Why does descended gonads mean male?
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
How do you differentiate Frasier syndrome and Denys-Drash?
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
Which enzyme deficits in CAH are going to be associated with undervirilisation in males?
17 alpha , sTAR , 3Beta-HSD (partially)
54
Which enzyme deficit in CAH is going to cause hypertension?
CYP11B1
55
In CAH 21 hydroxylase deficiency - you get a build up of?
17-hydroxyprogresterone
56
Neonatal diabetes is caused by which mutation?
Glucokinase
57
Which insulin is used in the insulin pump?
Aspart, Lispro (Rapid acting)
58
What is the effect of GLP-1 on glucose metabolism?
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
Name 4 conditions that can reduce the red blood cell survival and falsely decrease HbA1C values?
``` Blood loss Haemolytic anaemia Splenomegaly End stage renal disease Pregnancy ```
60
Name 4 condition that can decrease red cell turnover and can falsely increase values of HbA1C?
Iron def anaemia Uraemia Raised triglycerides or bilirubin Chronic alcohol, opioids and salicylate
61
Which type of MODY is least likely to have diabetic complications?
MODY 2 Often incidental finding of mild hyperglycaemia and rarely associated with complications - glucokinase
62
Which hormone is most sensitive to radiation?
Growth hormone GH > Gonadotrophins (LH) > ACTH > TSH
63
Cortisol elevated with an intermediate (5 to 20) or normal/high ACTH: Is this ACTH Dependent or ACTH independent?
ACTH Dependent (this includes Cushing's disease) You may also see hyperpigmentation
64
What is the reason for hypertension in 11 beta hydroxylase deficiency?
11 deoxycortisol
65
Which 2 congenital adrenal hyperplasia cause hypertension?
11 beta hydroxylase 17 alpha hydroxylase
66
Ledig cells are stimulated by which hormone?
Luteneising hormone but early in pregnancy (first trimester) - bHCG is responsible (beta HCG and LH have similar structure)
67
StAR mutation leads to....
Lipoid CAH -> lipid accumulation in adrenocortical cells (Severe glucocorticoid and mineralocorticoid deficiency) Presents as female in both XX or XY
68
Somatic (or mosaic) mutation in GNAS1 leads to
McCune Albright syndrome
69
What disorder of sexual development does McCune Albright leads to ?
Precocious puberty (gonadotropin-independent)
70
What is the inheritance pattern of complete androgen insensitivity syndrome?
X-Linked recessive inheritance | Mutation in androgen receptor gene
71
What is the second most common type of CAH and what is the most common presentation?
11-beta hydroxylase Hypertension and virilisation
72
Why do you get hypertension in 11-beta hydroxylase deficiency?
11-Deoxycortisol has mineralorticoid effect
73
In a male, Tanner stage 2 correlates to:
Testicular enlargement and some very mild pubic hair development
74
Pubic hair is more related to Tanner stage __
3 (but does start at stage 2)
75
How do you differentiate peripheral precocious puberty vs benign adrenarche
Precocious puberty has both adrenarche and thelarche
76
Side effects of PTU?
Severe hepatotoxicity, agranulocytosis, hepatitis, vasculitis
77
How is sublingual ectopic thyroid gland diagnosed?
Technetium scan | Radio-131-iodine scan - used for ablation
78
Hypophosphatemic rickets and Dent's, which is more common in boy vs girl?
Dent disease: More likely in boys because X linked recessive X linked hypophosphatemia is equal in both (X linked dominance)
79
How is the Vit D best stored in the body?
D3 (25, hydroxylase) 1,25 is used up very fast
80
Which cell in the pancreas produces glucagon?
Alpha cells
81
Short long bones, madelung deformity, muscle hypertrophy, genu valgum, increased carrying angle... Which syndrome?
Leri-Weill Dyschondosteosis
82
Difference between constitutional delay vs poor spinal growth (in a child that has had radiation)
In constitutional delay there is a delayed bone age
83
What common endocrinological anomaly does Vincristine cause?
SIADH - hyponatraemic hypervolaemic (or euovlaemic)
84
Which cells produce AMH?
Sertoli cells | testosterone made by Leydig cells
85
How does OCP help with PCOS?
Androgens cause SHBG to fall

BPT exams (24 decks)

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