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3a Child Health > Endocrine > Flashcards

Endocrine Flashcards

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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
What is hypogonadism?
Lack of sex hormones - testosterone and oestrogen
26
When does normal puberty start for boys?
9-15 years
27
When does normal puberty start for girls?
8-14 years
28
What does puberty in girls start with?
Breast buds then pubic hair then periods
29
What does puberty in boys start with?
Testicle enlargement, penis enlargement, pubic hair, voice deepens
30
What is hypogonadotropic hypogandism
Deficiency of LH and FSH leading to deficiency of testosterone and oestrogen
31
What are some causes of deficiency of LH and FSH?
Kallman syndrome Hypothyroidism GH deficiency IBD or CF Excessive exercise or dieting
32
What is the treatment for hypogonadotropic hypogonadism?
Replacement therapy of oestrogen and testosterone as injections, gels, patches or tablets
33
What is hypergonadotropic hypogonadism?
Gonads fail to respond to stimulation from LH and FSH with no negative feedback from oestrogen and testosterone
34
What are some causes of hypergonadotropic hypogonadism?
Previous gonad damage - testicular torsion, cancer, mumps Congenital absence of testes or ovaries Kleinfelters/ Turners
35
What is the treatment for hypergonadotropic hypogonadism?
Oestrogen or testosterone replacement therapy
36
What is Kallmann Syndrome?
A genetic disorder with the association of hypogonadtrophic hypogonadism and anosmia
37
What is the cause of the X-linked form of Kallman syndrome?
Mutation in KAL gene
38
What does Kallmann syndrome cause?
Lack of production of hormones relating to sexual development
39
What is the clinical presentation of Kallmann syndrome?
Synkinesia (mirror image movements) Renal agensis Visual problems Cleft lip Undescended testes Hearing loss Colour blindness Short fingers or toes
40
What are some investigations for Kallmann Syndrome?
MRI of hypothalamus, pituitary gland Molecular genetic testing FBC and ferritin Early morning FSH and LH TFT Pelvic USS Brain MRI
41
What is the treatment for Kallmann Syndrome?
HRT inducing puberty and maintaining normal hormone levels
42
What is a hypothalamic tumour?
Benign growth in the hypothalamus which can place pressure on the brain
43
What can a hypothalamic tumour cause?
Seizures Early puberty Disruption of hypothalamic functions - blood pressure, body temperature, stress, hunger, sleep wake cycles
44
What is a syndrome that can have hypothalamic tumours?
Pallister-Hall
45
What is the presentation of hypothalamic tumours?
Gelastic seizures - laughing without trigger Problems with concentration, memory and learning Sudden rage Early puberty Age Extreme or lack of thirst
46
What is the treatment for hypothalamic tumours?
Surgery - laser ablation Anti-seizure medications Endocrine treatments - hormone agonists and replacements
47
What is CAH?
Congenital adrenal hyperplasia - deficiency of the 21-hydroxylase enzyme
48
What does CAH cause?
Underproduction of cortisol and aldosterone and overproduction of androgens from birth
49
What is the inheritance of CAH?
Autosomal recessive
50
What is the role of glucocorticoid hormones?
Stress Raise blood glucose Reduce inflammation Suppress immune system
51
What is the role of mineralocorticoid hormones?
Acts on kidneys to control salt and water balance
52
What is the role of 21-hydroxylase?
Converts progesterone into aldosterone and cortisol
53
What is the result of a 21-hydroxylase deficiency?
There is extra progesterone that is not converted to aldosterone and cortisol so it is converted to testosterone instead
54
What is the presentation of CAH?
Ambiguous genitalia More severe presents shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia
55
What is the presentation of less severe CAH in females?
Tall for their age Facial hair Absent period Deep voice Early puberty
56
What is the presentation of less severe CAH in boys?
Tall for their age Deep voice Large penis Small testicles Early puberty
57
What is the management of CAH?
Hydrocortisone - cortisol replacement Fludrocortisone - aldosterone replacement Corrective surgery for genitals
58
What is androgen insensitivity syndrome?
Defects in the androgen receptor so cells are unable to respond to androgen
59
What is the inheritance of Androgen Insensitivity Syndrome?
X linked recessive
60
What happens in androgen insensitivity syndrome?
Extra androgens are converted to oestrogen resulting in female secondary sex characteristics - patients are genetically male but female phenotypes externally
61
What are the hormone tests for androgen insensitivity syndrome?
Raised LH Normal or raised FSH Normal or raised testosterone Raised oestrogen
62
What is the management of androgen insensitivity syndrome?
Bilateral orchidectomy Oestrogen therapy Vaginal dilators or vaginal surgery

3a Child Health (14 decks)

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