Endocrine Flashcards

1
Q

Prolactin inhibitory hormone

A

Dopamine

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2
Q

Most reliable vitamin D test

A

25-hydroxyvitamin D

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3
Q

adrenal insufficiency

A

ACTH elevated if primary cortisol def

Investigate with synacthen test

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4
Q

Adjusted na equation in DKA

A

Na + 0.3(glucose-5.5)

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5
Q

Serum osmolality equation

A

2xNa + glu

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6
Q

Leydig cells secrete

A

SRY gene develop leydig cells which secrete testosterone

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7
Q

Sertoli cells secrete

A

AMH

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8
Q

> 90% CAH from

A

21-hydroxylase def

High 17-hydroxyprogesterone

(70% aldosterone and cortisol def)

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9
Q

Hypothalamic hamartoma clinically

A

Precocious puberty
DI
Gelastic sz (laughing or crying)

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10
Q

McCune Albright clinically (triad and other)

A

Classic triad:
Precocious puberty (peripheral) endo gain of function
Polyostotic Fibrous dysplasia
Cafe au lait (rarely cross midline)

Other:
– Phosphate wasting (hypophosphataemic rickets)
– Growth hormone excess (gigantism)
– Cushing's syndrome
– Thyrotoxicosis
– Cardiac arrhythmias
– Cholestasis etc
- Ovarian cysts secreting oestrogen
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11
Q

Mesomelia =

A

Shortening of the intermediate segment of limbs

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12
Q

Rhizomelia =

A

Shortening of proximal segment of limbs

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13
Q

Acromelia =

A

Shortening of distal segments of limbs

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14
Q

Two subgroups of skeletal dyplasias

A

Spinal changes dominant or minimal/absent (sitting height)

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15
Q

Multiple epiphysis like dysplasia and metsphyseal dysplasias are characterised by…

A

Pain and stiffness in joints as well as less pronounced growth failure

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16
Q

Madelung deformity is

A

Dinner fork deformity of wrist

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17
Q

Keri-Weill dyschondrosteosis is

A

Mesomelic limb shortening and madelung deformity

Haploinsufficiency of SHOx chromosome like cause of turners short stature

SHOX gene analysis (dated at pseudo-autosomal dominant region at terminal ends of both sex chromosomes)

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18
Q

XXY is taller or shorter or same height

A

Taller (SHOX dose effect)

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19
Q

Test for GH def

A

IGF1 and IGFBP3

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20
Q

Differential diagnosis of suprasellar SOL

A
Craniopharyngioma (calcified)
Optic glioma
Arachnoid cyst
Astrocytoma
Epidermis cyst
Germinoma
Pineocytoma
Aneurysm
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21
Q

Complication post op of craniopharyngioma resection (benign)

A

Recurrence

Obesity (likely from hypothalamic damage)

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22
Q

Male infants testosterone <6m

A

Same magnitude as early puberty and low indicates hypogonadotrophic hypogonadism

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23
Q

What to replace first in septooptic dysplasia

A

Cortisol then thyroid to avoid addisonian like crisis

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24
Q

Bamforth-Lazarus syndrome presentation and defect

A

Homozygous mutation in TTF-2 gene locus

Congenital hypothyroid, poor tone, spiked hair, cleft

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25
Q

Treatment of neonatal graves

A

Lugol’s iodine, PTU carbimazole, beta block

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26
Q

Pendred’s syndrome clinically

A
SLC26A4 gene (pendrin mutation which transports iodine across membrane) AR
Vestibular abnormalities, small goitre, learning difficulties
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27
Q

TSH on heelprick at lab measurement higher/lower..

A

Higher

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28
Q

Hypocalcaemia in digeorge from..

A

Parathyroid aphasia/hypoplasia

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29
Q

Albright’s hereditary osteodystrophy clinically

A

Osteomalacia cutis, poor linear growth, TSH resistance and pseudohypoparsthyroidism, cataracts, round face, flat nose, short neck, syndactyly, shortened 3-5 metacarpals, short fat

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30
Q

DDx rickets

A

Calcium def

Hereditary

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31
Q

X linked hypophosphatemic rickets

A

X-linked dominant disorder with substantial variable expression - loss of function mutation PHEX ( increased renal excretion Po4
Short
Delayed walking
Rickets
Delayed tooth eruption and increased decay

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32
Q

Causes of hyperpsrathyroidism in children

A
Primary:
Sporadic from adenoma
MEN 1, 2A
McCune Albright
Familial (jaw tumour syndrome)
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33
Q

Familial hypocalciuric hypercalcemia

A

Inactivsting mutation, AD, asymptomatic with low. Ca/cr clearance

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34
Q

First signs puberty in male and female

A

Male testicular vol > 3ml and female breast buds (oestrogen action)

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35
Q

Central precocious puberty diagnosis and Tx

A

Diagnosed with gnrh stimulation test and measure if LH and FSH rise to pubertal range (LH dominant cf FSH in thelarche) and then check MRI (other pit function)
Managed with GnRH agonist (leuprolide Lucrin)

36
Q

CNS irradiation associated with…

A

GH def

37
Q

Prepubertal testis indicates..

A

Peripheral cause of androgen (almost always adrenal (CAH, androgen secreting tumour, hcg secreting tumour, androgen secreting tumour)

38
Q

Hypogonadotrophic hypogonadism causes

A

Genetic (KAL1, FGFR1, zgnHT, DAX1, tumours, post head trauma, CHARGE (60-80% defect in CdH7 gene), prader-Willi, kallman, Lawrence-moon-biedl
Chronic disorders
Galactosaemia (75-96%) defect GaLT (galactose-1-phosphate uridyltrsnsferase

39
Q

Central precocious puberty treatment

A

Agent of choice Lucrin (depot leuprorelin acetate) an inhibitor of gonadotropin production - intramuscular injection (IM)

Second line Zoladex (goserelin acetate) slow subcutaneous injection

40
Q

Most common cause for hypothyroidism and investigation of choice

A

The most common cause of acquired overt hypothyroidism in both children and adults is autoimmune thyroiditis (Hashimoto disease).

An elevated thyroid peroxidase (TPO)
antibody concentration would be most consistent with this diagnosis.

41
Q

Thyroid gland missed on scintiscan when what is present

A

Blocking antibodies

42
Q

Fertility in mcCune Albright syndrome

A

Normal

43
Q

Precocious puberty Tx in MAS

A
Decrease / stop menses
– Slow bone age advancement
– Improve final height
• Tamoxifen 20mg daily
• J Pediatr 2003;143:60‐6
• Anastrazole (aromatase inhibitor) and anti‐androgen
(spironolactone or flutamide)
• JPEM 2002;15 Suppl 3:945‐8
• Ketaconazole
• Fulvestrant 4mg/kg IM monthly
• Pure estrogen receptor antagonist:
44
Q

Induce puberty in panhypopit male

A

Testosterone

45
Q

MODY types and presentations with genetics

A

1: Adolescent with gradual hyperglycaemia and beta cell failure - highly responsive to sulphonureas with FHX and no antibodies (HNF1A)
(3: HNF4A has similar presentation but transient neonatal diabetes with large gestational age)

2: GCK present with mild sustained hyperglycaemia non progressive and no secondary complications so no treatment

Can have renal cysts and liver affected

46
Q

Which stress steroid is used

A
Hydrocortisone 
Omit desmopressin (to avoid low serum sodium as hydrocortisone has enough mineralocortical action)

3 x physiological

47
Q

Turners percent which have puberty spontaneously

A

30%

48
Q

Clitoromegaly is a sign of

A

Exposure to potent androgens

Can be from CAH (remember your case you saw - can have surgery on this to normalise)

49
Q

Somogyi effect is

A

Recount hyperglycaemia

50
Q

Child presents with dental issues and rickets, seizure and low ALP

What is genetic defect and treatment

A

Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role in bone mineralization
Treat with pyridoxine

51
Q

Death DM1 likely due to

A

DKA

52
Q

Posterior pituitary hormones

A

Oxytocin and vasopressin

53
Q

DM1 sibling risk

A

5%

54
Q

Child with DM, DI and optic atrophy

A

Wolfram syndrome

55
Q

Schmidt syndrome

A

Hashimoto
DM
Addisons

56
Q

Chronic candidiasis associated with what else

Type 1 autoimmune polyendocrine syndrome

A

Addisons
Hypoparathyroidism

Also thyroid

RarelyDM
(Type 2 all adrenal insufficiency and just endo)

57
Q

MEN1 genetics and common clinical traits (3 Ps)

A

MEN1 encodes MENIN (tumour supressor)
AD

Most common: hyperparathyroid
Pituitary
Pancreas

Facial angiomata

58
Q

MEN 2 genetics and presentation

A

Gain of function in RET Proto-oncogene

2a: thyroid, phaeo, parathyroid
2b: thyroid, phaeo, AND GI stuff [neuronal dysplasia intestines (like hirsprungs), mucosal and GI neuromas] and thick lips/marfanoid features

59
Q

Carney complex

A

Risk endocrine tumours
Myxomas
Skin changes

60
Q

SRY -> SOX9 -> differentiation of Sertoli cells which secretes?

A

Serology secrets AMH

Testosterone by leydig cells which needs 5 alpha reductase to make DHT (required for male looking gonads

61
Q

Turners cause of short stature no ovaries (streak gonads) sexual infantilism?

A

Haploinsufficiency of the X chromosome

62
Q

A two-year-old boy presents with an incidentally noted abdominal mass. He is found to have sparse
pubic hair. Investigation confirms he has a hepatoblastoma.
Virilization is most likely in children with ectopic production of:
A. alpha fetoprotein.
B. androstenedione.
C. human chorionic gonadotrophin
D. luteinizing hormone
E. testosterone.

A

C

63
Q

Sick euthyroid T3/4 up or down

A

Down

64
Q

Central precocious puberty definition

A

Defined as the onset of breast development before 8 years in girls and the onset
of testicular development (volume >4mL) before the age of 9 years in boys, as a
result of activation of the hypothalamic pituitary gonadal axis

65
Q

adrenoleukodystrophy mutations in what gene

A

ABCD1
gene located on Xq28

66
Q

Hypogonadotrophic hypogonadism 50% has no sense of smell what syndrome

A

Kallman

67
Q

Autosomal recessive.
Prenatal and postnatal growth retardation.
Microcephaly, ptosis, anteverted nares, broad alveolar ridges,
syndactyly of the 2nd-3rd toes, severe mental retardation.
70% male.
Genital ambiguity or complete sex reversal.
Low cholesterol and elevated 7-dehydrocholesterol.

A

Smith-lemli-opitz

Mutations in Δ7-reductase gene on chromosome 11q12-q13.

68
Q

Neonate with acanthosis nigricans and hyperglycaemia causes (3h

A

Type A insulin resistance syndrome
Leprechaunism
Rabsom-mendenhall syndrome

69
Q

DM1 present when what percent of beta cells destroyed

A

80%

70
Q
Unawareness of hypoglycaemia is predominantly due to failure of secretion of which one of the 
following hormones? 
A. Adrenaline. 
B. Cortisol. 
C. Glucagon. 
D. Growth hormone. 
E. Somatostatin
A

A

71
Q

Adjusted sodium calculation

A

Na + 0.3(glu-5.5)

72
Q

What is heavily protein bound

A

Testosterone

73
Q

ADH controls?

A

H2O absorption CD

74
Q

GH stimulated by

A
Sleep
Exercise
Protein
Hypoglycaemia
(Inhibited by insulin)
75
Q

Hypoglycaemia awareness due to

A

Adrenaline

76
Q

Overweight is BMI >?

A

85%

77
Q

Males height growth in puberty is

A

29cm

78
Q

Important feature in kleinfelters and mx

A

Infertility from azospermia
Testosterone and aromatise inhibitors
Can extract sperm and inject it though

79
Q

MEN2 gene

A

RET

80
Q

Endogenous cortisol secretion ?mg/m2/day

A

6-8

81
Q

APS1 gene

A

AIRE

82
Q

MEN2 gene

A

RET

83
Q

What does adrenal cortex, medulla and reticularis make

A

Cortex is affected in CAH
Medulla makes adrenaline MAD
Reticularis makes androgens RANDY

84
Q

Hormone responsible for dawn effect

A

GH

85
Q

How does metformin work

A

Suppresses gluconeogenesis and increases insulin sensitivity

86
Q

Newborn with spikey hair, cleft, congenital hypothyroid?

A

TTF-2 gene

Bamforth-Lazarus syndrome