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Phase 3a > Paeds - endocrine and reproductive > Flashcards

Paeds - endocrine and reproductive Flashcards

1
Q

what are the complications of undescended testis?

A

infertility
torsion
testicular cancer
psychological

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2
Q

what is the definition of undescended testis?

A

cryptorchidism (congenital undescended testis)

- when one or both testes are not present within the dependent portion of the scrotal sac

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3
Q

what are the key diagnostic factors of undescended testis?

A
  • presence of risk factors (fam history, low birth weight, prematurity)
  • malpositioned of absent testis
  • palpable cryptorchid testis
  • non palpable testis
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4
Q

what are the risk factors of undescended testis?

A

family history
prematurity
low birth weight

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5
Q

what investigation may you consider for undescended testis?

A

USS
MRI
hormonal evaluation with hCG simulation test
hormonal evaluation

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6
Q

how do you treat undescended testis?

A

retractile testicals - annual follow up examination

orchidopexy

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7
Q

what is testicular torsion?

A

a urological emergency caused by the twisting of the testicle on the spermatic cord leading to constrictionof the vascular supply and time-sensitive ischaemia and/or necrosis of the testicular tissue.

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8
Q

what age group is testicular torsion common in ?

A

13-15 years

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9
Q

what are the clinical features of testicular torsion?

A

testicular pain - usually of sudden onset and may be referred to lower abdomen
intermittent or acute on and off pain
scrotal swelling or oedema
elevation of the testis does not relieve the pain
nausea and vomiting may be present

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10
Q

what are the investigations for testicular torsion?

A

grey-scale USS
power doppler USS
colour doppler USS

you could also consider urinalysis, FBC, CRP

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11
Q

how do you treat testicular torsion?

A

treatment is with surgical exploration

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12
Q

what is precocious puberty ?

A

when sexual characteristics appear before 8 years in girls and before 9 years in boys. (more common in females)

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13
Q

what is thelarche?

A

the first stage of breast development

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14
Q

what is adrenarche?

A

the first stage of pubic hair development

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15
Q

what are the two types that precocious puberty can be divided into?

A

Gonadotrophin dependent (central/true) - due to premature activation of the hypothalamic-pituitary-gonadal axis, FSH and LH are raised

gonadotrophin independent (pseudo?false) - due to excess sex hormone, FSH and LH low

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16
Q

what are the key diagnostic factors for precocious puberty?

A

presence of risk factors
boys - testis >4 ml
girls - breast development
pubic and axillary hair

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17
Q

what are the investigations for precocious puberty?

A

bone age assessment
basal FSH and LH
serum testosterone
serum oestrogen

other investigations to consider: MRI brain, CT brain, urinary steroid profile

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18
Q

how is precocious puberty treated?

A

for gonadotophin-dependent
1st line - evaluation and treat underlying cause plus a gonadotopin-releasing hormone agonist (leuprorelin or triptorelin)
if there is poor growth due to GnRH agonist then a GH (somatropin) can be added.
also a cyproterone can be added

For gonadotrophin-independent
if it is due to McCune-albright syndrome or testotoxicosis then the first line is a ketoconazole or cyproterone and the second line is an aromatase inhibitor plus an antiandrogen
if it is due to congential adrenal hyperplasia
first line is adjustment of ongoing hydrocortisone treatment

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19
Q

in males with precocious puberty what would bilateral enlargement, unilateral enlargement and small testis suggest?

A

precocious puberty is rare in males and usually has an organic cause
bilateral enlargement - gonadotrophin release from intracranial lesion
unilateral enlargement - gonadal tumour
small testis - adrenal cause (tumour or hyperplasia)

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20
Q

what is the most common cause of hypothyroidism in children?

A

autoimmune thyroiditis - juvenile hypothyroidism

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21
Q

what are some causes of congenital hypothyroidism?

A

malddescent of the thyroid and athyrosis
dyshormonogenesis - an inborn error of of thyroid hormone synthesis
iodine deficiency
hypothyroidism due to TSH deficiency

22
Q

what are the clinical features of congenital hypothyroidism?

A 
usually asymptomatic unless picked up on screening 
otherwise symptoms include:
FTT
feeding problems 
prolonged jaundice
constipation 
pale, cold, mottles dry skin
coarse facies
large tongue
hoarse cry
goitre
umbilical hernia 
delayed development
23
Q

what are the clinical features of acquired hypothyroidism?

A 
females>males
short stature/growth failure
cold intolerance
dry skin 
cold peripheries 
bradycardia
thin dry hair 
goitre
slow relaxing reflexes 
constipation 
delayed puberty 
obestiy
24
Q

how is congenital hypothyroidism screened for and picked up?

A

Guthrie test however this test will not pick up those have thyroid dysfunction secondary to pituitary abnormalities.

25
Q

how is hypothyroidism treated ?

A

thyroxine - levothyroxine

26
Q

what increases the risk of juvenile hypothyroidism?

A

Down or Turner syndrome and the development of other autoimmune conditions (RA, DM, vitiligo)

27
Q

what is kallmanns syndrome?

A

condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development.

It is an X-linked recessive trait

28
Q

what are the features of kallmann’s syndrome ?

A 
delayed puberty, 
hypogonadism, 
cryptorchidism 
ansomnia
sex hormone levels are low 
LH, FSH levels are inappropriately low
patients are typically of normal or above average height

cleft lip/palate and visual/hearing defects are also seen in some patients

29
Q

what is delayed puberty defined as?

A

lack of any pubertal signs by the age of 13 in girls and 14 in boys.
it is more common in boys

30
Q

what are some functional and organic causes of delayed puberty?

A

functional may be constitutional delay, underlying chronic disease, malnutrition, excessive exercise

organic either due to lack of serum gonadotrophin production or action (hypogonatrophic hypogonadism), or gonadal insufficiency with elevated gonadotrophins (hypergonadotrophic hypogonadism)

31
Q

what test would you do for delayed puberty?

A

non-dominant wrist x-ray - helps to estimate skeletal age

basal LH and FSH

32
Q

how would constitutional delay puberty be treated?

A

first line - observation and monitoring

if needed:
in boys a short course of oxandrolone or testosterone can be given
in girl a short course of oestrogen can be given

33
Q

how would organic causes of delayed puberty be treated?

A

boys: pubertal induction with testosterone
Girls: pubertal induction with oestrogen plus cyclic progesterone after breakthrough bleeding or adequate oestrogenisation
* girls with turners syndrome may also require a growth hormone (somatropin) and oxandrolone

34
Q

what is congenital adrenal hyperplasia?

A

a family of inherited enzyme deficiencies that impair normal cortiocosteroid synthesis by the adrenal cortex.

35
Q

what are the enzyme deficiencies that cause CAH?

A

21-hydroxylase (90% of cases)
11-beta hydroxylase deficiency
17-alpha-hydroxylase deficiency

36
Q

what is a complication of CAH?

A

80% of affected infants are unable to produce aldosterone, leading to salt water loss (low sodium and high potassium)
salt water losing crisis at 1-3 weeks

37
Q

how does CAH present?

A

virilisation of external genitalia in female (clitoral hypertrophy and variable fusion of the labia
in males - there may be an enlarged penis and the scrotum is pigmented
a salt water crisis presenting with vomiting and weight loss, floppiness and circulatory collapse
tall stature in 20% of male non-salt losers
both male and female non-salt losers also develop a muscular build, adult body odour, pubic hair and acne leading to a precocious puberty.

38
Q

what are the investigations for CAH?

A

serum 17-hydroxyprogesterone
serum 11-deoxyxortisol
serum chemistry

biochemical abnormalities are low plasma sodium, high plasma potassium, metabolic acidosis, hypoglycaemia

39
Q

how would you treat a mother of a fetus that is at risk of being affected by 21-hyroxylase deficiency?

A

dexamethasone - prior to the ninth week of gestation

40
Q

what is the ongoing management for CAH?

A

for infants or children give a glucocoirticoid - hydrocortisone

41
Q

what is androgen insensitivity syndrome?

A

it is an X-linked recessive condition due to end-organ resistance to testosterone causing geonotypically male children to have a femal phenotype.

42
Q

what are the features of androgen insensitivity syndrome?

A

primary amennorhoea
undescended testis causing going swelling
breast development may occur as a result of the conversion of testosterone to oestradiol

43
Q

how is androgen insensitivity syndrome managed?

A

counselling - raise the child as a female
bilateral orchidectomy - increased risk of testicular cancer due to undescended testis
oestrogen therapy

44
Q

what is the most common type of hypothalamic tumour?

A

Gliomas are the most common type - they result from abnormal growth of glial celss, which support nerve cells.

45
Q

what are the symptoms of hypothalamic tumours?

A 
Euphoric sensations 
failure to thrive 
headache 
hyperactivity 
loss of body fat and appetite

some may cause vision loss
if the tumours block the flow of spinal fluid they may cause headaches and sleepiness from the fluid collecting in the brain.

46
Q

what are some complications of obesity?

A

orthopaedic - slipped upper femoral epiphysis, tibia vara (bow legs), abnormal foot structure and function

idiopathic intracranial hypertension (headaches, blurred optic disc margins)

hypoventilation syndrome (daytime somnolence; sleep apnoea; snoring; hypercapnia; heart failure)

gallbladder disease

PCOS

Type 2 DM

hypertension

abnormal blood lipids

47
Q

How is obesity measured in children?

A

BMI percentile charts are required

consider tailored clinical intervention if BMI at 91st centile or above
consider assessing for comorbidities if BMI is above the 98th centile

48
Q

what can cause obesity in children ?

A 
lifestyle factors 
asian children are four times more likely to be obese than white children 
GH deficiency 
hypothyroidism 
Down's syndrome 
Cushing's syndrome 
Prada-Willi syndrome
49
Q

when should medication for obesity be considered and what should be given?

A

it should be given in children over the age of 12 who have extreme BMI>40/m2 or if they have BMI>35kg/m2 and complications

they are only recommended when dietary, exercise and behavioural approaches have been used

Orlistat - lipase inhibitor

50
Q

what are the classifications of anaemia in neonates, 1month-12months and 1 year to 12 years?

A

neonates: Hb less than 140g/L
1 month to 12 months - Hb less than 100g/L
1 year to 12 years: Hb less than 110g/L

51
Q

what are some causes of microcytic anaemia?

A 
iron-deficiency anaemia 
thalassaemia 
congenital sideroblastic anaemia 
anaemia of chronic disease (more commonly a normocytic, normochromic picture)
lead poisoning

Phase 3a (41 decks)

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