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3A > Paediatric Endo > Flashcards

Paediatric Endo Flashcards

1
Q

What is cryptorchidism?

A

Udescended testes

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2
Q

What percentage of undescended testes are bilateral?

A

30%

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3
Q

RF for undescended testes?

A

Family history, low birth weight, preterm delivery, disorders of sexual development, maternal smoking, previous inguinal hernia surgery

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4
Q

What are true undescended testes?

A

Testes that lie along the normal path of development- in the abdomen or in the inguinal canal

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5
Q

What are ascending testes?

A

Testes that were previously in the scrotum but have moved into a higher position - may be due to a persisting processes vaginalis

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6
Q

When are infants screened for undescended testes

A

Within 72 hours of birth and then at 6-8 weeks

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7
Q

List some complications of undescended testes

A

Infertility
Testicular cancer
Torsion

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8
Q

At what ages should infants be referred to urology for undescended testes?

A

Around 3 months (surgery should happen before 6 months

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9
Q

Differentials of undescended testes?

A

Retractile testes
Absent testes (intersex conditions)

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10
Q

What surgery is performed for undescended testes?

A

Orchidopexy

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11
Q

What is testicular torsion?

A

Twisting of the spermatic cord leading to testicular ischaemia and necrosis

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12
Q

What deformity increases the likelihood of testicular torsion

A

The bell clapper deformity

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13
Q

How does testicular torsion present?

A

Severe sudden onset pain
Nausea and vomiting
Testicular swelling and erythema
Testes are retracted upwards
Loss of cremasteric reflex
Absent Prehn’s sign

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14
Q

What is prehn’s sign

A

Where elevation of the testes relieves pain - present in epididymitis by not torsion

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15
Q

Differentials of testicular torsion

A

Trauma, epididymitis, testicular torsion, hydrocele

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16
Q

What are the two types of testicular torsion

A

Extravaginal and intravaginal

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17
Q

How is testicular torsion investigated

A

Surgical exploration- no imaging

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18
Q

Treatment of testicular torsion

A

Detorsion and fixation (fix both testes as bell clapper is often bilateral)

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19
Q

Define precocious puberty

A

The development of secondary sexual characteristics before 8 years in females and before 9 years in males.

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20
Q

What is thelarche

A

The first stage of breast development

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21
Q

What is adrenarche

A

The first stage of pubic hair development

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22
Q

Who is precocious puberty more common in ?

A

Girls
More common in Afro-carribbean

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23
Q

How can precocious puberty be classified

A

Gonadotrophin dependent (true) and gonadotrophin independent (pseudo)

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24
Q

Explain gonadotrophin dependent precocious puberty

A

Occurs due to premature activation of the hypothalamic-pituitary axis- leads to raised FSH and LH

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25
Q

List some causes of gonadotrophin dependent precocious puberty

A

Idiopathic
Brain neoplasms
Post traumatic brain injury
Cranial radiotherapy

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26
Q

Explain gonadotrophin independent precocious puberty

A

Occurs due to an excess of sex hormones (oestrogen and testosterone). The FSH and LH will be low.

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27
Q

List some causes of gonadotrophin independent precocious puberty

A

Ovarian causes- follicular cysts, granulosa cell tumours, leydig cell tumours
Testicular causes- leydig cell tumours
Adrenal causes (21-hydroxylase deficiency in congenital adrenal hyperplasia)
McCune- Albright syndrome
Exposure to exogenous hormones (e.g contraceptive pill, testosterone gel)

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28
Q

If precocious puberty presents with bilateral testicular enlargement, what is the likely cause

A

Gonadotrophin release from an intracranial lesion (true precocious puberty)

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29
Q

Presentation of precocious puberty

A
  • tall stature in childhood (will become small due to early fusion of the epiphyseal growth plate)
  • breast development
  • testes >4cm
  • pubic/axillary hair
  • menarche
  • cafe au lait spots in McCune-Albright
30
Q

How is precocious puberty diagnosed

A
  • FSH and LH levels
  • GnRH stimulation test
  • Oestrogen and testosterone levels
  • pelvic USS - check for ovarian cysts
31
Q

How is precocious puberty treated?

A

Treat underlying cause
If gonadotrophin dependent consider GnRH analogue (goserelin)
Consider growth hormone as treating with GnRH agonist can suppress height)

32
Q

What is Kallman syndrome

A

A type of hypogonadotrophic hypogonadism disorder which results in a decrease in sex hormones and underdevelopment of primary and secondary sexual characteristics

33
Q

Pathophysiology of kallman’s syndrome

A

There is failure of migration of the neurones from the olfactory placode, This includes:
- GnRH secreting neurones (leading to decreased GnRH, FSH and LH)
- olfactory neurones (leading to anosmia)

34
Q

How does Kallman’s syndrome present

A

Delayed puberty - small penis and testes, lack of breast development, lack of pubic hair, lack of facial hair etc
Cryptorchidism
Anosmia
Patients commonly tall
Skeletal abnormalities - scoliosis, short middle finger
May also have hearing and visual disturbances

35
Q

Aetiology of Kallman syndreom

A

Genetic condition- commonly due to an X-linked recessive trait

36
Q

Is Kallman syndrome more common in boys or girls

A

Much more common in boys

37
Q

How is Kallman syndrome diagnosed?

A
  • hormone levels: sex hormones low, LH/FSH low, GnRH low
  • Genetic testing
38
Q

How is Kallman syndrome treated?

A

Hormone therapy- testosterone supplementation to stimulate sexual characteristics
gonadotrophin supplementation may help with sperm production
Calcium and vitamin D (at risk of osteoporosis)

39
Q

What is a potential long term complication of Kallman syndrome and why?

A

Osteoporosis as testosterone and oestrogen are protective against bone absorption

40
Q

what is congenital adrenal hyperplasia ?

A

A group of autosomal recessive disorders that impair steroid biosynthesis

41
Q

Pathophysiology of congenital adrenal hyperplasia

A
  1. There is a deficiency in an enzyme which is needed to produce cortisol (most commonly 21-hydroxylase)
  2. This leads to a deficiency in cortisol
  3. This causes the anterior pituitary to produce a compensatory overproduction of adrenocorticotropic hormone (ACTH)
  4. The increased ACTH leads to an increase in production of adrenal androgens that can lead to virilization of female infants and affect genital development
42
Q

Presentation of congenital adrenal hyperplasia

A

Virilization of female external genitalia-female infants will present with ambiguous genitalia due to excessive androgen exposure in utero.
Male infants often appear normal at birth
Salt wasting crisis
Precocious puberty
Infertility
Height and growth abnormalities (accelerated in childhood but short adult height)

43
Q

What is salt-wasting crisis and why does it occur in congenital adrenal hyperplasia

A

Occurs in around 70% of those with 21-hydroxylase deficiency
These patients are also unable to make aldosterone (As well as cortisol) meaning there is salt loss

44
Q

How does salt wasting crisis present?

A

Dehydration, hypotension and electrolyte imbalances

45
Q

What hormone deficiencies can cause congenital adrenal hyperplasia?

A

21- hydroxylase (90%)
11- beta hydroxylase
17- hydroxylase

46
Q

What does 21-hydroxylase deficiency lead to

A

Impaired conversion of 17-hydroxyprogesterone to 11-deoxycortisol

47
Q

How is congenital adrenal hyperplasia diagnosed

A

Many countries screen for CAH in newborns (not in the UK) - test 17-hydroxyprogestone levels

ACTH stimulation testing - 17-hydroxyprogesterone is measured, ACTH is administered and the level of 17-OHP is measured again. An abnormal rise in 17-OHP indicates congenital adrenal hyperplasia

48
Q

How is congenital adrenal hyperplasia treated

A

Glucocorticoid replacement - hydrocortisone
If aldosterone deficiency- mineralocorticoid replacement (fludrocortisone)
May need surgery -feminising genitoplasty

49
Q

What is androgen insensitivity syndrome

A

An x linked recessive condition where there is a mutation in the androgen receptor gene causing a defective androgen receptor on the external genitalia (means there cannot be a response to testosterone)

50
Q

Describe the phenotype of a patient with androgen insensitivity syndrome

A

A genetic male with a female phenotype -will have female external genitalia

51
Q

Why don’t patients with androgen insenstivity syndrome develop internal female genitalia

A

the testes produce anti-mullerian hormone which prevents development of internal female genitalia

52
Q

What is the inheritance of androgen insensitivity syndrome

A

x linked recessive

53
Q

treatment of androgen insensitivity syndrome

A

oestrogen therapy
bilateral orchidectomy
vaginal dilators/ surgery

54
Q

what two types of hypothyroidism can children experience

A

congenital - from birth
acquired

55
Q

pathophysiology of congenital hypothyroidism

A

can be due to an underdeveloped thyroid gland (dysgenesis) or a fully developed gland that doesnt produce enough hormono (dyshormonogenesis)

56
Q

most common cause of acquired hypothyroidism in children

A

autoimmine thyroid (hashimotos) - anti-TPO and anti thyroglobulin

57
Q

How does congential hypothyroidism present?

A

prolonged neonatal jaundice
poor feeding
contsipation
increased sleeping
reduced activity
slow growth and development

When older- delayed mental and physical milestones, short stature, puffy face, hypotonia

58
Q

What defines delayed puberty

A

the absence of any pubertal development by 13 in girls and 14 in boys
- in girls this is the absence of any breast budding
- in boys this is a testicular volume less than 4ml

59
Q

what is the order of pubertal development in girls

A

breast budding
pubic hair
menstrual periods

60
Q

what is the order of pubertal development in boys

A

enlargement of the testes
enlargement of the penis
gradual darkening of the scrotum
development of pubic hair
deepening of the voice

61
Q

What are the three broad types of pubertal delay

A

functional delay
hypergonadotrophic hypogonadism
hypogondadotrophic hypogonadsim

62
Q

What can cause functional delay in puberty

A

constitutional delay
excessive exercise or stress
chronic illness
malnutrtion

63
Q

explain what hypogonadotrophic hypogonadism is

A

a cause of delayed puberty where there is a decrease in gonadotrophin (LH and FSH) - leads to a decrease in oestrogen and testosterone

64
Q

give some examples of hypogonadotrophic hypogonadism

A

damage to the pituitary gland or hypothalamus (radiotherapy, surgery)
growth hormone deficiency
hypothyroidism
hyperprolactinaemia
Kallman syndrome

65
Q

explain what hypergonadotrophic hypogonadism is

A

a condition where the gonads to not respond to LH and FSH leading to reduced oestrogen and testosterone, and a subsequent increase in LH and FSH due to lack of negative feedback

66
Q

causes of hypergonadotrophic hypogonadism

A

previous damage to the gonads (mumps, cancer, torsion)
congenital absence of testes or ovaries
Kleinfelter’s syndrome
Turners syndrome

67
Q

causes of delayed puberty with short stature

A

Turner’s, Prader-Willi, Noonan’s

68
Q

causes of delayed puberty with normal stature

A

PCOS, androgen insensitivity, Kallman’s, Klinefelter’s

69
Q

what investigations may be done for delayed puberty

A

tanner staging
wrist x-ray to obtain bone age
LH and FSH levels
growth hormone
prolactin
genetic testing
oestrogen and testosterone level

70
Q

What may be involved in the treatment of delayed puberty?

A

hormone replacement therapy- oestrogen or testosterone

71
Q
A

3A (33 decks)

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