Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

3A > Paediatric Endo > Flashcards

Paediatric Endo Flashcards

(73 cards)

Start Studying
1
Q

What is cryptorchidism?

A

Udescended testes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What percentage of undescended testes are bilateral?

A

30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

RF for undescended testes?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

When are infants screened for undescended testes

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

List some complications of undescended testes

A

Infertility
Testicular cancer
Torsion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

Around 3 months (surgery should happen before 6 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Differentials of undescended testes?

A

Retractile testes
Absent testes (intersex conditions)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What surgery is performed for undescended testes?

A

Orchidopexy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is testicular torsion?

A

Twisting of the spermatic cord leading to testicular ischaemia and necrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What deformity increases the likelihood of testicular torsion

A

The bell clapper deformity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is prehn’s sign

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Differentials of testicular torsion

A

Trauma, epididymitis, testicular torsion, hydrocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the two types of testicular torsion

A

Extravaginal and intravaginal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How is testicular torsion investigated

A

Surgical exploration- no imaging

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Treatment of testicular torsion

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Define precocious puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is thelarche

A

The first stage of breast development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is adrenarche

A

The first stage of pubic hair development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Who is precocious puberty more common in ?

A

Girls
More common in Afro-carribbean

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How can precocious puberty be classified

A

Gonadotrophin dependent (true) and gonadotrophin independent (pseudo)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Explain gonadotrophin dependent precocious puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
List some causes of gonadotrophin dependent precocious puberty
Idiopathic Brain neoplasms Post traumatic brain injury Cranial radiotherapy
26
Explain gonadotrophin independent precocious puberty
Occurs due to an excess of sex hormones (oestrogen and testosterone). The FSH and LH will be low.
27
List some causes of gonadotrophin independent precocious puberty
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)
28
If precocious puberty presents with bilateral testicular enlargement, what is the likely cause
Gonadotrophin release from an intracranial lesion (true precocious puberty)
29
Presentation of precocious puberty
- 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
How is precocious puberty diagnosed
- FSH and LH levels - GnRH stimulation test - Oestrogen and testosterone levels - pelvic USS - check for ovarian cysts
31
How is precocious puberty treated?
Treat underlying cause If gonadotrophin dependent consider GnRH analogue (goserelin) Consider growth hormone as treating with GnRH agonist can suppress height)
32
What is Kallman syndrome
A type of hypogonadotrophic hypogonadism disorder which results in a decrease in sex hormones and underdevelopment of primary and secondary sexual characteristics
33
Pathophysiology of kallman’s syndrome
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
How does Kallman’s syndrome present
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
Aetiology of Kallman syndreom
Genetic condition- commonly due to an X-linked recessive trait
36
Is Kallman syndrome more common in boys or girls
Much more common in boys
37
How is Kallman syndrome diagnosed?
- hormone levels: sex hormones low, LH/FSH low, GnRH low - Genetic testing
38
How is Kallman syndrome treated?
Hormone therapy- testosterone supplementation to stimulate sexual characteristics gonadotrophin supplementation may help with sperm production Calcium and vitamin D (at risk of osteoporosis)
39
What is a potential long term complication of Kallman syndrome and why?
Osteoporosis as testosterone and oestrogen are protective against bone absorption
40
what is congenital adrenal hyperplasia ?
A group of autosomal recessive disorders that impair steroid biosynthesis
41
Pathophysiology of congenital adrenal hyperplasia
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
Presentation of congenital adrenal hyperplasia
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
What is salt-wasting crisis and why does it occur in congenital adrenal hyperplasia
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
How does salt wasting crisis present?
Dehydration, hypotension and electrolyte imbalances
45
What hormone deficiencies can cause congenital adrenal hyperplasia?
21- hydroxylase (90%) 11- beta hydroxylase 17- hydroxylase
46
What does 21-hydroxylase deficiency lead to
Impaired conversion of 17-hydroxyprogesterone to 11-deoxycortisol
47
How is congenital adrenal hyperplasia diagnosed
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
How is congenital adrenal hyperplasia treated
Glucocorticoid replacement - hydrocortisone If aldosterone deficiency- mineralocorticoid replacement (fludrocortisone) May need surgery -feminising genitoplasty
49
What is androgen insensitivity syndrome
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
Describe the phenotype of a patient with androgen insensitivity syndrome
A genetic male with a female phenotype -will have female external genitalia
51
Why don't patients with androgen insenstivity syndrome develop internal female genitalia
the testes produce anti-mullerian hormone which prevents development of internal female genitalia
52
What is the inheritance of androgen insensitivity syndrome
x linked recessive
53
treatment of androgen insensitivity syndrome
oestrogen therapy bilateral orchidectomy vaginal dilators/ surgery
54
what two types of hypothyroidism can children experience
congenital - from birth acquired
55
pathophysiology of congenital hypothyroidism
can be due to an underdeveloped thyroid gland (dysgenesis) or a fully developed gland that doesnt produce enough hormono (dyshormonogenesis)
56
most common cause of acquired hypothyroidism in children
autoimmine thyroid (hashimotos) - anti-TPO and anti thyroglobulin
57
How does congential hypothyroidism present?
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
What defines delayed puberty
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
what is the order of pubertal development in girls
breast budding pubic hair menstrual periods
60
what is the order of pubertal development in boys
enlargement of the testes enlargement of the penis gradual darkening of the scrotum development of pubic hair deepening of the voice
61
What are the three broad types of pubertal delay
functional delay hypergonadotrophic hypogonadism hypogondadotrophic hypogonadsim
62
What can cause functional delay in puberty
constitutional delay excessive exercise or stress chronic illness malnutrtion
63
explain what hypogonadotrophic hypogonadism is
a cause of delayed puberty where there is a decrease in gonadotrophin (LH and FSH) - leads to a decrease in oestrogen and testosterone
64
give some examples of hypogonadotrophic hypogonadism
damage to the pituitary gland or hypothalamus (radiotherapy, surgery) growth hormone deficiency hypothyroidism hyperprolactinaemia Kallman syndrome
65
explain what hypergonadotrophic hypogonadism is
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
causes of hypergonadotrophic hypogonadism
previous damage to the gonads (mumps, cancer, torsion) congenital absence of testes or ovaries Kleinfelter's syndrome Turners syndrome
67
causes of delayed puberty with short stature
Turner's, Prader-Willi, Noonan's
68
causes of delayed puberty with normal stature
PCOS, androgen insensitivity, Kallman's, Klinefelter's
69
what investigations may be done for delayed puberty
tanner staging wrist x-ray to obtain bone age LH and FSH levels growth hormone prolactin genetic testing oestrogen and testosterone level
70
What may be involved in the treatment of delayed puberty?
hormone replacement therapy- oestrogen or testosterone
71
How does congenital hypothyroidism present?
prolonged neonatal jaundice poor feeding constipation increased sleeping reduced activity slow growth and development when older- delayed mental and physical milestones, short statue, puffy face, hypotonia
72
pathophysiology of congenital hypothyroidism
either underdeveloped gland (dysgenesis) or fully developed gland that doesnt produce enough hormone (dyshormonogenesis)
73

3A (42 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions