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3a paeds > Paeds Endo + Repro > Flashcards

Paeds Endo + Repro Flashcards

1
Q

What is Cushings syndrome

A

excessive cortisol levels

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2
Q

what are two groups of corticosteroids

A

Glucocorticoids (e.g., cortisol)
Mineralocorticoids (e.g., aldosterone)

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3
Q

where is cortisol produced

A

adrenal glands.

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4
Q

what is cushings disease

A

pituitary adenoma secreting excessive adrenocorticotropic hormone (ACTH), stimulating excessive cortisol release from the adrenal glands.

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5
Q

what medication can cause cushings syndrome

A

exogenous corticosteroids, such as prednisolone or dexamethason

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6
Q

what are features of cushings

A

Round face (known as a “moon face”)
Central obesity
Abdominal striae (stretch marks)
Enlarged fat pad on the upper back (known as a “buffalo hump”)
Proximal limb muscle wasting (with difficulty standing from a sitting position without using their arms)
Male pattern facial hair in women (hirsutism)
Easy bruising and poor skin healing
Hyperpigmentation of the skin in patients with Cushing’s disease (due to high ACTH levels)

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7
Q

what are metabolic effects of cushings

A

Hypertension
Cardiac hypertrophy
Type 2 diabetes
Dyslipidaemia (raised cholesterol and triglycerides)
Osteoporosis

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8
Q

what are mental health effects of cushings

A

Anxiety
Depression
Insomnia
Rarely psychosis

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9
Q

what are causes of Cushing’s syndrome

A

C – Cushing’s disease (a pituitary adenoma releasing excessive ACTH)
A – Adrenal adenoma (an adrenal tumour secreting excess cortisol)
P – Paraneoplastic syndrome
E – Exogenous steroids (patients taking long-term corticosteroids)

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10
Q

what is Mc cause of Paraneoplastic Cushing’s syndrome

A

Small cell lung cancer

ectopic ACTH

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11
Q

how is Cushing’s syndrome diagnosed

A

Dexamethasone Suppression Tests

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12
Q

what is a normal response to Dexamethasone

A

suppressed cortisol due to negative feedback.

negative feedback on the hypothalamus, reducing the corticotropin-releasing hormone (CRH) output. It causes negative feedback on the pituitary, reducing the ACTH output. The lower CRH and ACTH levels result in a low cortisol

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13
Q

what does a lack of cortisol suppression to dexamethasone suggests

A

Cushing’s syndrome.

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14
Q

what are three types of dexamethasone suppression test:

A

Low-dose overnight test
Low-dose 48-hour
High-dose 48-hour test

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15
Q

what is Low-dose overnight test used for

A

a screening test to exclude Cushing’s syndrome

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16
Q

what is a Low-dose 48-hour test used for

A

used in suspected Cushing’s syndrome

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17
Q

what is a high-dose 48-hour cortisol test used for

A

used to determine the cause in patients with confirmed Cushing’s syndrome

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18
Q

how is low-dose overnight test given

A

dexamethasone (1mg) is given at night (usually 10 or 11 pm), and the cortisol is checked at 9 am the following morning.

Failure of the dexamethasone to suppress the morning cortisol could indicate Cushing’s syndrome, and further assessment is required.

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19
Q

how is a Low-dose 48-hour test given

A

dexamethasone (0.5mg) is taken every 6 hours for 8 doses, starting at 9 am on the first day. Cortisol is checked at 9 am on day 1 (before the first dose) and 9 am on day 3 (after the last dose).

Failure of the dexamethasone to suppress the day 3 cortisol could indicate Cushing’s syndrome, and further assessment is required.

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20
Q

how is a high-dose 48-hour test given

A

dexamethasone (2mg) is taken every 6 hours for 8 doses, starting at 9 am on the first day. Cortisol is checked at 9 am on day 1 (before the first dose) and 9 am on day 3 (after the last dose)

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21
Q

what is the higher dexamethasone dose able to suppress cortisol in

A

in Cushing’s syndrome caused by a pituitary adenoma (Cushing’s disease)

but not when it is caused by an adrenal adenoma or ectopic ACTH.

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22
Q

what test result differentiates Adrenal Adenoma and Ectopic ACTH

A

ACTH
Low in adrenal adenoma
High in ectopic ACTH

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23
Q

what other investigations can be carried out for cushings

A
  • 24-hour urinary free cortisol
  • Full blood count may show a high white blood cell count
  • U&Es may show low potassium if an adrenal adenoma is also secreting aldosterone
  • MRI brain for a pituitary adenoma
  • CT chest for small cell lung cancer
  • CT abdomen for adrenal tumours
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24
Q

what sign is indicative of Cushing’s disease or ectopic ACTH cause of Cushings syndrome

A

skin pigmentation

sign is absent in an adrenal adenoma or exogenous steroids.

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25
how is cushings treated
Trans-sphenoidal (through the nose) removal of pituitary adenoma Surgical removal of adrenal tumour Surgical removal of the tumour producing ectopic ACTH (e.g., small cell lung cancer), if possible
26
what is a complication of surgical removal of both adrenal glands and what is it
Nelson’s syndrome. development of an ACTH-producing pituitary tumour due to lack of cortisol and negative feedback
27
what medication is sued to reduce the production of cortisol in the adrenals
Metyrapone
28
what are two types of Hypothyroidism in children
congenital or acquired
29
what can untreated hypothyroidism in children lead to
significant problems with neurodevelopment and intellectual disability.
30
what is Congenital hypothyroidism
child is born with an underactive thyroid gland.
31
what is dyshormonogenesis
fully developed gland that does not produce enough hormone
32
what is dysgenesis
underdeveloped thyroid gland
33
when is Congenital hypothyroidism screened
newborn blood spot screening test.
34
how does Congenital hypothyroidism present
Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development
35
what is Acquired hypothyroidism
a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.
36
what is MC cause of acquired hypothyroidism
autoimmune thyroiditis, also known as Hashimoto’s thyroiditi
37
what is Hashimoto’s associated with
antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies
38
what are features of Hashimoto’s
Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss
39
what are investigations for hypothyroidism
full thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.
40
what medication can be used for hypothyroidism
Levothyroxine
41
what is Levothyroxine
synthetic version of T4 and metabolises to T3 in the body.
42
what does the anterior pituitary gland release
Thyroid-stimulating hormone (TSH) Adrenocorticotropic hormone (ACTH) Follicle-stimulating hormone (FSH) and luteinising hormone (LH) Growth hormone (GH) Prolactin
43
what does the posterior pituitary gland release
Oxytocin Antidiuretic hormone (ADH)
44
what does hypothalamus release
thyrotropin-releasing hormone (TRH) gonadotropin-releasing hormone (GnRH) growth hormone-releasing hormone (GHRH) corticotropin-releasing hormone (CRH) somatostatin dopamine
45
what is the thyroid axis
hypothalamus releases thyrotropin-releasing hormone (TRH). TRH stimulates the anterior pituitary to release thyroid-stimulating hormone (TSH). TSH stimulates the thyroid gland to release triiodothyronine (T3) and thyroxine (T4). hypothalamus and anterior pituitary respond to T3 and T4 by suppressing the release of TRH and TSH
46
what is the adrenal axis
hypothalamus releases corticotropin-releasing hormone (CRH). CRH stimulates the anterior pituitary to release adrenocorticotropic hormone (ACTH). ACTH stimulates the adrenal glands to release cortisol. Cortisol is sensed by the hypothalamus and anterior pituitary, suppressing the release of CRH and ACTH. This results in lower amounts of cortisol.
47
what are actions of cortisol on body
Increases alertness Inhibits the immune system Inhibits bone formation Raises blood glucose Increases metabolism
48
what is the The Growth Hormone Axis
hypothalamus produces growth hormone-releasing hormone (GHRH). GHRH stimulates the anterior pituitary to release growth hormone (GH). Growth hormone stimulates the release of insulin-like growth factor 1 (IGF-1) from the liver.
49
what is the function of growth hormone:
Stimulates muscle growth Increases bone density and strength Stimulates cell regeneration and reproduction Stimulates growth of internal organs
50
what is the Hypothalamic–Pituitary–Gonadal Axis
hypothalamus releases gonadotrophin-releasing hormone (GnRH). GnRH stimulates the anterior pituitary to produce luteinising hormone (LH) and follicle-stimulating hormone (FSH). Oestrogen has a negative feedback effect on the hypothalamus and anterior pituitary to suppress the release of GnRH, LH and FSH
51
what does LH and FSH stimulate
the development of follicles in the ovaries. The theca granulosa cells around the follicles secrete oestrogen
52
what does oestrogen stimulate
Breast tissue development Growth and development of the female sex organs (vulva, vagina and uterus) at puberty Blood vessel development in the uterus Development of the endometrium
53
what is oestrogen
steroid sex hormone produced by the ovaries in response to LH and FSH
54
what is Progesterone
steroid sex hormone produced by the corpus luteum after ovulation
55
what does Progesterone act on
acts on tissues that have previously been stimulated by oestrogen. Thicken and maintain the endometrium Thicken the cervical mucus Increase the body temperature
56
what is Kallmann's syndrome
genetic condition causing hypogonadotropic hypogonadism causes delayed puberty X-linked recessive trait
57
what are features of Kallmann's
'delayed puberty' hypogonadism, cryptorchidism anosmia -> lack of smell sex hormone levels are low LH, FSH levels are inappropriately low/normal patients are typically of normal or above-average height
58
how is Kallmann's managed
testosterone supplementation gonadotrophin supplementation may result in sperm production if fertility is desired later in life
59
what are LH Testosterone levels in Kallmann's
Low Low
60
what are LH Testosterone levels in Androgen insensitivity syndrome
High High/normal
61
what are LH Testosterone levels in Testosterone-secreting tumour
Low High
62
WHat is Androgen insensitivity syndrome
cells are unable to respond to androgen hormones due to a lack of androgen receptor X linked recessive caused by a mutation in the androgen receptor gene Extra androgens are converted into oestrogen, resulting in female secondary sexual characteristic
63
what is genotype and phenotype of Androgen insensitivity syndrome
genetically male, with XY sex chromosome absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype normal female external genitalia and breast tissue
64
what prevents female internal organs from developing inAndrogen insensitivity syndrome
testes produce anti-Müllerian hormone, which prevents males from developing an upper vagina, uterus, cervix and fallopian tubes.
65
how does androgen insensitivity syndrome present
presents in infancy with inguinal hernias containing testes. Alternatively, it presents at puberty with primary amenorrhoea.
66
what doe the hormone tests for androgen insensitivity syndrome show
Raised LH Normal or raised FSH Normal or raised testosterone levels (for a male) Raised oestrogen levels (for a male)
67
how is androgen insensitivity syndrome managed
Bilateral orchidectomy (removal of the testes) to avoid testicular tumours Oestrogen therapy Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length
68
what is Hypogonadotropic hypogonadism
deficiency of LH and FSH, leading to a deficiency of the sex hormones testosterone and oestrogen
69
what are DDx for deficiency of LH and FSH
* Previous damage to the hypothalamus or pituitary * Growth hormone deficiency * Hypothyroidism * Hyperprolactinaemia (high prolactin) * Serious chronic conditions * Excessive exercise or dieting * Constitutional delay in growth and development * Kallman syndrome
70
what is Hypergonadotropic hypogonadism
gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads.
71
what are gonadotrophins
LH and FSH
72
what causes Hypergonadotropic hypogonadism
Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) Congenital absence of the testes or ovaries Kleinfelter’s Syndrome (XXY) Turner’s Syndrome (XO)
73
what Initial investigations could be ordered for delayed puberty
Full blood count and ferritin for anaemia U&E for chronic kidney disease Anti-TTG or anti-EMA antibodies for coeliac disease
74
what Hormonal blood tests could be ordered for delayed puberty
* Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism. * Thyroid function tests * Growth hormone testing. Insulin-like growth factor I is often used as a screening test for GH deficiency. * Serum prolactin
75
what is Congenital Adrenal Hyperplasia
congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproduction of androgens from birth. autosomal recessive
76
what is action of Aldosterone
to increase sodium and decrease potassium in the blood.
77
what is function of 21-hydroxylase
responsible for converting progesterone into aldosterone and cortisol
78
what does defect of 21-hydroxylase cause in CAH
there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
79
how do Female patients with severe CAH present
presents at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels. hyponatraemia, hyperkalaemia and hypoglycaemia.
80
how do Female patients with mild CAH present
Tall for their age Facial hair Absent periods Deep voice Early puberty skin hyperpigmentation --> bc ACTH
81
how do male patients with mild CAH present
Tall for their age Deep voice Large penis Small testicles Early puberty skin hyperpigmentation --> bc ACTH
82
how is CAH managed
Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency Aldosterone replacement, usually with fludrocortisone Female patients with “virilised” genitals may require corrective surgery
83
what are types of Precocious puberty
- central precocious puberty (CPP), resulting from premature activation of the hypothalamic-pituitary-gonadal axis - peripheral precocious puberty (PPP), due to excessive sex steroids independent of gonadotropin secretion.
83
what is Precocious puberty
onset of secondary sexual characteristics before the age of 8 in girls and 9 in boys
84
how is Precocious puberty managed
GnRH analogues are first-line treatment for CPP focuses on halting pubertal progression and minimising psychosocial implication
85
what causes Precocious puberty
idiopathic causes, central nervous system abnormalities, endocrine disorders and genetic mutations.
86
what are features of Precocious puberty
rapid growth, advanced bone age, acne and behavioural changes
87
when does NICE rec clinical intervention for obesity
if BMI at 91st centile or above.
88
what children are MC to be obese
Asian children: four times more likely to be obese than white children female children taller children: children with obesity are often above the 50th percentile in height
89
what are causes of obesity in children
growth hormone deficiency hypothyroidism Down's syndrome Cushing's syndrome Prader-Willi syndrome
90
what are Consequences of obesity in children
- orthopaedic problems: slipped upper femoral epiphyses, Blount's disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains - psychological consequences: poor self-esteem, bullying - sleep apnoea - benign intracranial hypertension - long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
91
what is Phimosis
non-retractile foreskin
92
when is intervention considered for Phimosis
If the child is over 2 years of age and has recurrent balanoposthitis or urinary tract infection

3a paeds (12 decks)

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