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3a Child Health > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What is cryptochidism?

A

Undescended testes - don’t descend through inguinal canal

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2
Q

What is the management for cryptochidism?

A

Watch and wait
Most descend in 3-6 months
Orchiodopexy at 6-12 months

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3
Q

What is testicular torsion?

A

Twisting of spermatic cord within the tunica vaginalis
Causes occlusion of testicular blood flow

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4
Q

What is a risk factor for testicular torsion?

A

Bell clapper deformity - horizontal lie so testes are not fixed to scrotum

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5
Q

What are the clinical features of testicular torsion?

A

Sudden onset severe unilateral testicular pain
Makes walking painful
Abdominal pain
Hot, swollen and tender testicle

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6
Q

What are two signs of testicular torsion?

A

Cremasteric reflex is absent
Negative phrens sign

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7
Q

What is the management of testicular torsion?

A

Untwist within 4-6 hours to prevent loss

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8
Q

What are two differentials for testicular torsion?

A

Testicular appendage torsion
Epididymo-orchitis (phrens sign positive)

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9
Q

What is PICA?

A

A feeding disorder in which someone eats non-food substances with no nutritional value such as paper, soap, chalk, charcoal, ash, hair or ice

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10
Q

What is PICA most likely to occur alongside?

A

Iron deficiency anaemia
OCD
Depression
Pregnancy
Autism
Schizophrenia

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11
Q

What is trichophagia?

A

Eating hair - can get stuck in digestive tract and cause blockages

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12
Q

What is geophagia?

A

Eating soil - can eat parasites

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13
Q

What are the clinical features of PICA?

A

Anaemia
Ascariasis
Constipation
Electrolyte imbalance
arrhythmias

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14
Q

Give 2 genetic causes of obesity

A

Prader willi
Leptin deficiency

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15
Q

Give 3 endocrine causes of obesity

A

Hypothyroidism
Cushings
PCOS

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16
Q

What is precocious puberty?

A

Early onset and rapid progression of puberty.

Under 8 years in females and under 9 years in males.

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17
Q

What is central PP?

A

Gonadotrophin dependent
Can be idiopathic

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18
Q

What is peripheral PP?

A

Gonadotrophin independent

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19
Q

What is hypothyroidism?

A

Low levels of thyroid hormone which can be congenital or acquired

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20
Q

What are some later presentations as a baby with hypothyroidism?

A

Prolonged neonatal jaundice, poor feeding, constipation, increased sleeping, reduced activity, coarse facies, hoarse cry

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21
Q

What is the most common acquired cause of hypothyroidism?

A

Autoimmune Hashimoto’s thyroiditis with anti-TPO antibodies

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22
Q

What are the symptoms of hypothyroidism?

A

Fatigue, weight gain, poor growth and school performance, dry skin and hair, cold intolerance, bradycardia, pseudo-puberty

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23
Q

What are the tests for hypothyroidism?

A

Full thyroid function blood tests - TSH, T3, T4
Thyroid USS
Thyroid antibodies

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24
Q

Name the treatment for hypothyroidism and 2 side effects

A

Levothyroxine
AF and osteoporosis

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25
Q

What is hypogonadism?

A

Lack of sex hormones - testosterone and oestrogen

26
Q

When does normal puberty start for boys?

A

9-15 years

27
Q

When does normal puberty start for girls?

A

8-14 years

28
Q

What does puberty in girls start with?

A

Breast buds then pubic hair then periods

29
Q

What does puberty in boys start with?

A

Testicle enlargement, penis enlargement, pubic hair, voice deepens

30
Q

What is hypogonadotropic hypogandism

A

Deficiency of LH and FSH leading to deficiency of testosterone and oestrogen

31
Q

What are some causes of deficiency of LH and FSH?

A

Kallman syndrome
Hypothyroidism
GH deficiency
IBD or CF
Excessive exercise or dieting

32
Q

What is the treatment for hypogonadotropic hypogonadism?

A

Replacement therapy of oestrogen and testosterone as injections, gels, patches or tablets

33
Q

What is hypergonadotropic hypogonadism?

A

Gonads fail to respond to stimulation from LH and FSH with no negative feedback from oestrogen and testosterone

34
Q

What are some causes of hypergonadotropic hypogonadism?

A

Previous gonad damage - testicular torsion, cancer, mumps
Congenital absence of testes or ovaries
Kleinfelters/ Turners

35
Q

What is the treatment for hypergonadotropic hypogonadism?

A

Oestrogen or testosterone replacement therapy

36
Q

What is Kallmann Syndrome?

A

A genetic disorder with the association of hypogonadtrophic hypogonadism and anosmia

37
Q

What is the cause of the X-linked form of Kallman syndrome?

A

Mutation in KAL gene

38
Q

What does Kallmann syndrome cause?

A

Lack of production of hormones relating to sexual development

39
Q

What is the clinical presentation of Kallmann syndrome?

A

Synkinesia (mirror image movements)
Renal agensis
Visual problems
Cleft lip
Undescended testes
Hearing loss
Colour blindness
Short fingers or toes

40
Q

What are some investigations for Kallmann Syndrome?

A

MRI of hypothalamus, pituitary gland
Molecular genetic testing
FBC and ferritin
Early morning FSH and LH
TFT
Pelvic USS
Brain MRI

41
Q

What is the treatment for Kallmann Syndrome?

A

HRT inducing puberty and maintaining normal hormone levels

42
Q

What is a hypothalamic tumour?

A

Benign growth in the hypothalamus which can place pressure on the brain

43
Q

What can a hypothalamic tumour cause?

A

Seizures
Early puberty
Disruption of hypothalamic functions - blood pressure, body temperature, stress, hunger, sleep wake cycles

44
Q

What is a syndrome that can have hypothalamic tumours?

A

Pallister-Hall

45
Q

What is the presentation of hypothalamic tumours?

A

Gelastic seizures - laughing without trigger
Problems with concentration, memory and learning
Sudden rage
Early puberty
Age
Extreme or lack of thirst

46
Q

What is the treatment for hypothalamic tumours?

A

Surgery - laser ablation
Anti-seizure medications
Endocrine treatments - hormone agonists and replacements

47
Q

What is CAH?

A

Congenital adrenal hyperplasia - deficiency of the 21-hydroxylase enzyme

48
Q

What does CAH cause?

A

Underproduction of cortisol and aldosterone and overproduction of androgens from birth

49
Q

What is the inheritance of CAH?

A

Autosomal recessive

50
Q

What is the role of glucocorticoid hormones?

A

Stress
Raise blood glucose
Reduce inflammation
Suppress immune system

51
Q

What is the role of mineralocorticoid hormones?

A

Acts on kidneys to control salt and water balance

52
Q

What is the role of 21-hydroxylase?

A

Converts progesterone into aldosterone and cortisol

53
Q

What is the result of a 21-hydroxylase deficiency?

A

There is extra progesterone that is not converted to aldosterone and cortisol so it is converted to testosterone instead

54
Q

What is the presentation of CAH?

A

Ambiguous genitalia
More severe presents shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia

55
Q

What is the presentation of less severe CAH in females?

A

Tall for their age
Facial hair
Absent period
Deep voice
Early puberty

56
Q

What is the presentation of less severe CAH in boys?

A

Tall for their age
Deep voice
Large penis
Small testicles
Early puberty

57
Q

What is the management of CAH?

A

Hydrocortisone - cortisol replacement
Fludrocortisone - aldosterone replacement
Corrective surgery for genitals

58
Q

What is androgen insensitivity syndrome?

A

Defects in the androgen receptor so cells are unable to respond to androgen

59
Q

What is the inheritance of Androgen Insensitivity Syndrome?

A

X linked recessive

60
Q

What happens in androgen insensitivity syndrome?

A

Extra androgens are converted to oestrogen resulting in female secondary sex characteristics - patients are genetically male but female phenotypes externally

61
Q

What are the hormone tests for androgen insensitivity syndrome?

A

Raised LH
Normal or raised FSH
Normal or raised testosterone
Raised oestrogen

62
Q

What is the management of androgen insensitivity syndrome?

A

Bilateral orchidectomy
Oestrogen therapy
Vaginal dilators or vaginal surgery

3a Child Health (14 decks)

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