Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Peads > Growth metabolic endocrine > Flashcards

Growth metabolic endocrine Flashcards

1
Q

How many children are affected by diabetes mellitus and what is the predominant type?

A
  • 2 in 1000 before age 16

- Mostly T1DM

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

Main genes of T1DM?

Pathophysiology of T1DM?

A
  • Main implicated genes appear to be HLA-DR3 and HLA-DR4
  • Pathophysiology: caused by destruction of pancreatic beta cells in islets of Langerhans by an autoimmune process
  • There is a strong familial link (30-40% concordance between monozygotic twinsbut also an environmental factor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What other disease is T1DM associated with?

A

Other genetic conditions such as:

  • Hypothyroidism
  • Addison’s
  • Coeliac disease
  • Rheumatoid arthritis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

T1DM can sometimes be triggered…what are the most common triggers?

A

Enteroviral infections are most common trigger of type one diabetes

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

What are the two peaks of presentation of diabetes

A

Pre-school age

Teenagers

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

What are some presenting features of diabetes?

A
  • Polyuria (nocturia, secondary enuresis)
  • Polydipsia
  • Fatigue
  • Weight loss - failure to grow

***might be diagnosed in this early stage or might present with DKA which requires urgent treatment

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

How do we diagnose diabetes in children?

What are some other clinical signs of diabetes?

A
  • Random blood glucose >11.1mol/L DIAGNOSTIC
  • Fasting blood glucose >7mmol/L or high HbA1c also aid diagnosis

-Useful signs include:
ACANTHOSIS NIGRICANS, SKIN TAGS and POLYCYSTIC OVARIES

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

How should T1DM be managed initially?

A
  • IF they have presented in acute phase then resuscitate accordingly (fluids, insulin etc.)
  • Educate the child so they can be a key part in the management of the condition themselves (this has been shown to make blood sugars much more optimal)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What things do children with a diagnosis of T1DM need to be counselled on? (8)

A
  • pathophysiology of diabetes
  • blood glucose monitoring
  • how to s/c inject insulin (technique and sites - belly, rotate sites)
  • information about diet and carbohydrates (carb counting) DIETICIAN REFERRAL
  • recognition of sx of hypoglycaemia
  • where to get advice
  • psychological impact
  • DIABETES UK
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What forms of insulin therapy are there?

A

Rapid-acting insulin-covers insulin needs for meals eaten at the same time as the injection. This type of insulin is often used with longer-acting insulin.

Short-acting insulin-covers insulin needs for meals eaten within 30-60 minutes.

Intermediate-acting insulin- covers insulin needs for about half the day or overnight. This type of insulin is often combined with a rapid- or short-acting type.

Long-acting insulin covers insulin needs for about one full day. This type is often combined, when needed, with rapid- or short-acting insulin.

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

What advice should be given to patients about injection sites? (3)

A

-Fatty tissues around the upper outer arm, lower abdomen and the anterior and lateral thigh
- Pinch up the skin and inject at 45 degrees.
ROTATE SITES (prevent lumpy skin, lipoatrophy or lipohypertrophy)

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

What, vaguely, should a diabetic person’s diet be like?

A
  • High in complex carbohydrates and low in fats

- High in fibre will prevent short sharp shocks of glucose and encourage more sustained response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How might DKA present in a child? (7)

A
  • VERY NON-SPECIFIC
  • Vomiting
  • Abdo pain
  • Dehydration
  • Hyperventilation (kussmaul breathing -acidosis compensation)
  • Hypovoleamic shock
  • Drowsiness, LOC, death, coma

DO A BLOOD GLUCOSE TEST!!!!!!!!!

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

What investigations should be offered in children with ?DKA? (7)

A
  • Glucose (>11.1)
  • Blood ketones (>3.0)
  • Us&E (high creatinine suggests dehydration)
  • Blood gas (will show severe metabolic acidosis - lactate)
  • Urinary glucose and ketones
  • Cardiac monitoring (ECG) T wave for hypokalaemia
  • Weight
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How should DKA in a child be managed? (5)

A
  1. Give fluids
    1. INSULIN - start an insulin infusion of 0.05-0.1 U/kg - DO NOT GIVE A BOLUS: aim to bring the blood glucose down slowly in a controlled manner.
      a. Aim for reduction of approximately 2mmol/L/hr, rapid reduction is dangerous
    2. POTASSIUM - although initial potassium may be high it will fall following treatment with insulin (insulin drives K into cells) and during the rehydration process.
      a. Replace potassium AS SOON AS URINE IS PASSED
    3. AFTERWARDS -when possible re-establish oral fluid and sub-cutaneous insulin - do not stop IV insulin until 1hr after the sub-cutaneous insulin has been given
    4. Identify and treat and underlying cause
      Infection is one of the most common precipitates of DKA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is moderate and what is severe failure to thrive?

What is the preferred term used by parents?

A

Moderate FTT - fall across 2 centiles
Severe FTT - fall across 3 centiles or more

parents prefer the term weight or growth faltering

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

How can you tell the difference between FTT and constitutionally a small baby?

How can we estimate the final height of a child?

A
  • A constitutionally small baby will be happy, alert and responsive. They will still be growing but at a slow rate sticking to one of the lower centiles. Important to look at parents height.

MID-PARENTAL HEIGHT

  • BOYS - (FH+MH+13)/2
  • GIRLS (FH+MH-13)/2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are some ORGANIC causes of failure to thrive?

A
  • Impaired suck/swallow (cleft palate, tongue tie, cerebral palsy)
  • Chronic illness (Crohn’s, CF)
  • Inadequate retention (chronic vomiting, GORD)
  • Malabsorption (Coeliac, CF, CMPA, post NEC)
  • Failure to utilise nutrients (T21, CF, Extreme prem)
  • Increased requirements (CF, malignancy, thyrotoxicosis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are some non-organic causes of FTT?

A
  • Psychological or environmental deprivation

- 5-10% of children with FFT caused by ABUSE or NEGLECT

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

If there is concern the child is not growing properly what things should you ask in the hx? (7)

A
  • Birth history (premature? birth weigh? any neonatal problems?)
  • Developmental milestones
  • Food history (what do they eat? how long does it take? Do they get hungry?are they still managing to swallow? anything changed with their diet?)
  • Do the child have energy?
  • Does the child have D&V?
  • Does the child have a cough
  • Any problems with other babies in family?
  • Psychosocial problems at home
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What should you look for on an examination a child with FTT? (4)

A
  • Dysmorphic features
  • Bloods - TTG, FBC + Ferritin, U&Es, Inflam marks
  • Signs of malabsorption (distended abdo, thin buttocks,)
  • Signs of cardiac or resp disease (clubbing, chest deformity)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How should FTT be managed?

A

Depends on cause

  • Eating support
  • Identification and treatment of chronic disease
  • Support from clinical psychologist

***only need admission if <6m and FTT is severe

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

What age is classed as precocious puberty in boys and girls?

How do we stage puberty?

A
  • Development of secondary sexual characteristics younger than AGE 8 IN GIRLS and AGE 9 IN BOYS
  • Puberty is staged by Tanner staging
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Explain the pathophysiology of gonadotropin dependent (central) precocious puberty and name some examples of causes?

A

-GONADOTROPHIN-DEPENDENT/ central (‘true’ precocious puberty) occurs due to premature activation of the hypothalamic-pituitary axis
○ CSN lesions/tumours/radiation
○ Genetic mutations e.g. associated with phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Explain the pathophysiology of gonadotropin independent (pseudo precocious puberty and name some examples of causes?

A
  • GONADOTROPHIN-INDEPENDENT (pseudo or ‘false’ precocious puberty) from excess sex hormones

○ Gonads- ovarian cysts, ovarian tumors, Leydig cell tumors
○ Adrenals- tumours or congenital adrenal hyperplasia
○ Ectopic hCG production (germ cell tumor)
○ Exogenous sex hormone exposure
○ Hypothyroidism
○ Mcune-albight syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is usually the cause of precocious puberty in females?

What imaging investigation should be done in females with precocious puberty and what will it show?

A

-Normally just early onset of normal puberty (familial or idiopathic)

USS is done fo females and - enlarged uterus and polycystic ovaries normally seen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

How common is precocious puberty in boys and what is usually the cause?

What imaging would you use to investigate a boy with precocious puberty?

A
  • Much less common than in females
  • There is usually an organic cause e.g. intracranial lesion

Investigate with MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What examinations should be done in boys with precocious puberty?

A

TESTES

  • BILATERAL ENLARGMENT suggests gonadotrophin release from an intracranial lesion
  • SMALL suggests adrenal cause e.g. tumour or hyperplasia
  • UNILATERALLY LARGE - gonadal tumour
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

How should precocious puberty be managed? (males and females)

A

-Important principle is to REDUCE THE RATE OF SKELETAL MATURATION (assessed by bone age) - early growth can lead to very small stature in later life

Males:

  • Detect and treat any underlying pathology
  • Addressing psychological and behaviour problems that are associated with early puberty

/////////////
Females:
***Can be difficult to decide whether it is necessary to treat a girl

-For gonadotrophin-dependent disease then gonadotrophin analogues are the first treatment

For gonadotrophin-independent disease then inhibitors of the sex hormones are used (Medroxyprogesterone acetate, cyproterone acetate, testolactone ketconazole)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What do we class as DELAYED puberty?

A

No development by age 14 in girls and 15 in boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

In whom is the problem more common and what is the usual cause?

A

Much more common in boys

Constitutional Delay of Growth and Puberty (CDGP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

How do we categorise precocious puberty?

A
  • Categorised according to the levels of gonadotrophins (FSH and LH)
  • Gonadotrophin dependent ‘true precocious puberty’ VS gonadotrophin independent
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What should you always ask in a history for delayed puberty?

A
  • Parental (both mum and dad) age of puberty

- Excessive exercise or dieting (can cause constitutional delay in puberty)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

The most common cause of delayed puberty is constitutional delay in puberty. What are some other causes of delayed puberty?

A

Hypogonadotrophic hypogonadism

  • Systemic disease (CF, Coeliac, asthma, crohn’s)
  • Panhypopituitarism, isolated gonadotrophin or GH def.
  • Intracranial tumours
  • Kallman’s syndrome (LRHR def. and inability to smell)
  • Hypothyroidism

Hypergonadotrophic hypogonadism

  • chromosomal abnormalities e.g. Klinefelter’s or Turner’s
  • Steroid hormone enzyme def
  • Acquired gonadal damage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

How should delayed puberty be investigated? (10)

A
  • Pubertal staging (especially testicular volume for boys)
  • Karyotyping to check for Turners 45XO for girls
  • Identification of chronic disease
  • FBC to exclude anaemia and iron deficiency
  • CRP or ESR to exclude hidden inflammatory disease.
  • U&Es and LFT to exclude renal and liver diseases.
  • Bone profile - an inappropriately low for age alkaline phosphatase confirms slow growth.
  • Coeliac antibodies (tTG) to exclude cryptic coeliac disease.
  • thyroid function tests (TSH and free T4) to exclude hypothyroidism
  • LH/FSH/oestrogen/testosterone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How can we manage delayed puberty? (3)

A
  • identify and treat underlying cause
  • psychological impact
  • reassurance that it will occur

ORAL OXANDROLONE can be offered in young males
- This will induce some catch up growth but will not induce secondary sexual characteristics

In slightly older boys LOW DOSE IM TESTOSTERONE can be given to accelerate growth AND induce secondary sexual characteristics

FEMALES can be treated with oestradiol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What are some features of Klinefelter’s syndrome?

A
  • Phenotypically male
  • Delayed puberty
  • Tall
  • Sparse body hair
  • Gynecomastia
  • Infertility
  • Small testes
  • Learning difficulties
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q
  • what are the four main phases of growth in childhood
  • what are they affected by?
  • which is the fastest velocity?
A

Foetal (fastest) 30%
-affected by placental nutrition

Infancy 15%
-affected by nutrition, happiness and thyroid

Childhood 40%

  • Largest period of growth
  • Affected by growth hormone

Pubertal 15%
-Affected by sex hormones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What do we define as ‘short stature’?

Whats the most common cause of short stature?

A

2 SDs away from mean
-most common cause of short stature is idiopathic (80%)
for example, constitutional delay or familial short stature
-in FSS the bone age matches chronological age whereas for CDGP the bone age is younger

40
Q

What do we measure when assessing the child’s growth?

A 
Height / length 
Weight 
Mid parental height 
Head circumference 
Bone age
41
Q

What are some categories of pathological causes of short stature?

A
  • Remember most are normal/unconcerning
  • Dysmorphic syndromes
  • Endocrine syndromes
  • Chronic system disease
  • Psychosocial
42
Q

What are some dysmorphic syndromes that cause short stature?

A 
Down
Prader Willi 
Turner's 
Russel Silver 
Noonan
43
Q

What are some endocrine disorders that cause short stature? (5)

A
  • Growth hormone deficiency
  • Hypothyroidism
  • Hypopituitarism
  • Cushing’s syndrome
  • Pseudohypoparathyroidism
44
Q

What is a good way to remember which hormones are produced in which part of the pituitary ?

A

FLAT PIG
FLAT PIG (anterior): FSH, LH, ACTH, TSH, Prolactin, Growth hormone
Posterior - ADH and oxytocin

45
Q

What chronic diseases can cause short stature?

A
  • Coeliac disease
    • Chronic renal failure
    • Asthma
    • CF
    • Poorly controlled diabetes
      • Juvenile arthritis (STEROIDS)
46
Q

What psychological factors can cause short stature?

A
  • Physical and emotional deprivation

- Anorexia

47
Q

What should you always consider in a short girl?

A

TURNER’S (neck webbing, low hairlines, shield chest, spoon nails, wide carrying angle)

48
Q

If a child presents with short stature what are some really important things to ask in the history?

A

-Timing and duration of growth failure
-Pregnancy (GDM) and birth history
FH - congenital conditions, parents height, siblings
PMH - chronic disorders
DH- Steroids
FOOD hx
SH - how’s home, school, anxiety

49
Q

What should be included in your examination of a child with short stature?

A
  • Height (and height velocity, 2 measurements 1 year apart)
  • Weight
  • OFC (occipital-frontal circumference), appearance
  • Signs of endocrine disease (cushingoeid or thyroid)
  • Puberty staging
50
Q

What investigations should you do in a child with short stature? (7)

A
  • Pituitary screen: hormones
    • Look for chronic disease:
      FBC, U&E, LFT, TFTs, anti-TTG, IgA (autoimmune)-Look for vitamins deficiency:
      Vit D and, (haematinics: iron, folate, ferritin, B12)
    • Urine hormones
    • Genetics: syndromes (karyotype), sweat test for CF
    • Radiology: MRI, USS, skeletal survey, USS of uterus and ovaries
    • Endocrine stimulation/suppression tests
51
Q

What is Turner’s syndrome and at what age will patients usually present?

A
  • 45XO (only 45% will actually have the assumed absent second X chromosome, the remainder will just have deformity of second X e.g.a deletion on the short arm of one of their Xs)
  • If clinical features aren’t severe a patient will usually present at around the age of puberty wondering why they aren’t developing the same as their peers
52
Q

How can Turner’s syndrome present antenatally?

A
  • Pedal/ hand oedema

- Cystic hygroma

53
Q

What are some presenting features of Turner’s syndrome?

A
  • Lymphoedema of hands and feet
  • Coarctation of aorta
  • Spoon shaped nails/small nails (also with B12 def)
  • Short stature - cardinal feature and often reason for presentation
  • Shorterened 4th metacarpal
  • Neck webbing
  • Low set ears
  • Low hairline
  • Shield chest
  • Widely spaced nipples
  • Wide carrying angle
  • Pigmented moles
  • Infertility (ovarian dysgenisis-pregnancy is poss in IVF)
54
Q

What other conditions/abnormalities might people with Turner’s syndrome experience and how would you investigate?

A

Congenital heart defects (do BP and echo)

  - coarctation of aorta 
  - bicuspid aortic valve. This can cause an aortic stenosis which manifests as an ejection systolic murmur.

Delayed puberty - another reason for presentation
Ovarian dysgenesis (pelvic USS)
Hypothyroidism (do TFTs)
Renal abnormalities (horseshoe kidneys-USS)
Recurrent otitis media (hearing test)
More likely to have coeliac (anti TTG)
NORMAL INTELLECTUAL FUNCTION
Can inherit X linked recessive conditions (haemophilia)

55
Q

How should we manage Turner’s syndrome and what might be important to tell parents/patients?

A

GROWTH HORMONE can be given to encourage normal stature
Oestrogen replacement therapy to encourage secondary sexual characteristics in females

Let parents know there is NO correlation between 45XO and maternal age
There is a very small risk of reoccurrence

56
Q

What are some features of precocious puberty that would make you think there is an organic cause? (3)

A
  • DISSONANCE - this is when the usual sequence of pubertal events is abnormal e.g. isolated pubic hair + virilisation of the genitalia suggests an excess of androgens either from congenital adrenal hyperplasia or an androgen-secreting tumour
  • Rapid onset
  • Neurological symptoms e.g. neurofibromatosis
57
Q

What should be measured for children with puberty concerns? (4)

A
  • Height
  • Weight
  • Hieght velocity
  • Tanner stage
58
Q

In puberty, what is the effect of LH for males?

A

LH causes leydig cells to convert cholesterol into testosterone

59
Q

In puberty, what is the effect of FSH for males?

A

FSH causes sertoli cells to produce more sperm

60
Q

What is primary hypogonadism (HYPERGONADOTROPHIC HYPOGONADISM)

A

Primary hypogonadism is HYPERGONADOTROPHIC HYPOGONADISM

  • This is where the gonads don’t respond to gonadotropin hormones from the pituitary gland and so do not produce sex hormones (testosterone/estrogen)
  • This results in overproduction of GnRH and LH/FSH because there is no negative feedback
61
Q

What are some causes of hypergonadotrophic hypogonadism (primary)

A

○ Acquired damage to gonads:

		- Post surgery 
		- Chemo/radiotherapy 
		- Trauma
		- Torsion of testes 
		- Autoimmune disorders

○ Congenital:

		- KLINEFELTER'S (XXY)
		- TURNERS (45 XO)

○ Steroid hormone enzyme deficiencies
○ Cryptorchidism (testes haven’t fallen)

62
Q

What is secondary hypogonadism?

A

Secondary hypogonadism is HYPOGONADOTROPHIC HYPOGONADISM.

63
Q

What are some causes of hypogonadotrphic hypogonadism (secondary) (5)

A

○ Systemic disease:
- CF, Severe asthma, Crohn’s disease, organ failure

○ Lifestyle: starvation, excess physical training

○ Hypothalamic-pituitary disorders:

 - Panhypopituitarism 
 - Isolated gonadotrophin or growth hormone deficiency 
 - Intracranial tumours (including craniopharyngioma)
 - Kallman's syndrome

○ Acquired hypothyroidism
○ OBESITY has been linked to delayed puberty particularly in boys

64
Q

What syndrome is associated with hypogonadotrphic hypogonadism (secondary/central delay)?

A
  • Kallman’s syndrome LHRH deficiency and inability to smell….
  • Low levels of gonadotrophin releasing hormone, gonadotrophins and sex hormones
65
Q

What syndrome is associated with hypergonadotrophic hypogonadism (primary/peripheral)?

A
  • KLINEFELTER’S (XXY)
  • TURNERS (45 XO)
    are both associated with peripheral delay
66
Q

What do low LH/FSH levels in delayed puberty suggest?

A
  • low levels of LH/FSH are associated with central delayed puberty or constitutional delay (secondary hypogonadotrphic hypogonadism)
67
Q

What do high LH/FSH levels in delayed puberty suggest?

A
  • high levels of LH/FSH are associated with primary testicular or ovarian disorder
    (peripheral or hypergonadotrphic hypogonadism)
68
Q

What is genetics of prader Willi? (3)

A
  • Prader Willi is an example of an IMPRINTING GENETIC DISORDER
  • 15q11-13 deletion
  • if deletion was on maternal side its called Anglemans 15q11-13
69
Q

Symptoms of Prada Willi?

A
  • Hypotonia
  • Ambiguous genetalia and infertility
  • Excessive eating and obesity
  • Learning difficulties/behaviour problems
  • Dysmorphic features
  • Small stature
70
Q

How does sexual differentiation happen in utero and what can occur if this goes wrong?

A
  • Fetal gonads initially biopotential
  • Expression of SRY on Y chromosome causes male genitalia to develop
  • If not expressed then female develops

If this doesn’t occur properly then there can be some DISORDER OF SEXUAL DEVELOPMENT (DSD)

71
Q

What are some causes of disorder of sexual development?

A
  • Excessive androgens causing virilisation in females
  • Inadequate androgens causing under-virilisation in males
  • Gonadotrophin insufficiency
  • Ovotesticular disorders of sexual development (fetus has both XX and XY cells)
72
Q

What is the most common cause of excessive androgens causing DSD in females?

A

Congenital adrenal hyperplasia

73
Q

What are some causes of lack of androgens causing causing DSD in males? (3)

A

-Inability to respond to androgens (androgen insensitivity syndrome)

-Failure to convert testosterone to dihydrotestosterone
(5α­reductase deficiency- you’ll see a high testosterone to dihydrotestosterone ratio)

-Failure to produce any at all from cholesterol

74
Q

What conditions have DSD as a result of gonadotrophin insufficiency? (2)

A
  • Prader-Willi syndrome 15q11-13 deletion

- Congenital hypopituitarism (small penis and cryptorchidism)

75
Q

What is the most common cause of sexual ambiguity? What is the pathophysiology?

A

-Congenital adrenal hyperplasia in the female

  • 90% have insufficiency of enzyme 21-hydroxylase leading to failure in cortisol and aldosterone synthesis
  • This increases the amount of precursors which are then turned into androgens instead
76
Q

List some features of congenital adrenal hyperplasia (CAH)

A
  • Clitoral hypertrophy
  • Variable fusion of labia
  • Enlarged penis/pigmented scrotum
  • 80% of males present with salt loss (excessive vommitting at 1-3 weeks). The other 20% have tall stature and precocious puberty
  • Hypotension
  • Precocious puberty
  • Signs of virrilisation (hirsutism, acne)
77
Q

How is Congenital adrenal hyperplasia (CAH) detected? (4)

A
  • Usually found by detecting raised levels of the metabolic precursor 17-alpha-hydroxyprogesterone in the blood
  • Measure aldosterone and cortisol> LOW
  • Measure androgens> HIGH
  • In the salt-losers
    ○ Low plasma sodium
    ○ High plasma potassium
    ○ Metabolic acidosis
    ○ Hypoglycaemia
78
Q

How can Congenital adrenal hyperplasia (CAH) be prevented?

A
  • it is likely to recur in same parents

- Can give dexamethasone around the time of conception to suppress fatal ACTH drive and stop development of CAH.

79
Q

What are some clinical signs you would see in congenital adrenal hyperplasia and how are they caused?

A

○ Decrease in aldosterone results in HYPONATREAMIA, HYPERKALEAMIA and HYPOTENSION (because aldosterone brings Na and water back into blood stream and removes K into urine)

○ Decrease in cortisol results in HYPOGLYCAEMIA and compensatory ACTH production by the anterior pituitary gland

80
Q

Males often present in salt losing crisis, how is this treated?

A

MALES
-will often present in salt-losing crisis
○ Saline
○ Dextrose
○ Hydrocortisone IV to suppress ACTH axis (dampens down affect of adrenals)

81
Q

What is the long term management of congenital adrenal hyperplasia?

A

LONG TERM TREATMENT
○ Low cortisol: Lifelong corticosteroids (e.g. hydrocortisone) to suppress ACTH levels to allow normal growth and maturation

○ Low aldosterone: Mineralocorticoids (e.g. fludrocortisone) to correct salt loss

FEMALES

  • will often be given surgery to correct their external genitalia before sexual intercourse
  • they will often have a uterus and ovaries so it is generally recommended to raise them as female and they are fertile
82
Q

What should be monitored long term for patients with CAH?

A

Patients with CAH should have monitoring of:

  • growth
  • skeletal maturity
  • plasma androgens
  • 17α­hydroxyprogesterone
  • Manage psychosocial aspect
83
Q

What can happen in illness with patients with CAH and how can this be prevented?

A

Additional corticosteroids to cover illness or surgery to reduce risk of adrenal crisis and death

84
Q

What growth gentile should always be referred to peadiatrition?

A

children below the 0.4th centile should always be reviewed by a paediatrician

85
Q

What is constitutional delay in growth and puberty (CDGP)?

What does the child look like on examination? (3)

A

CONSTITUTIONAL DELAY IN GROWTH AND PUBERTY

- Often familial - parent of same sex 
- Commoner in males 
- Variation in normal timing 
- Not pathological

On examination:

- Delayed sexual changes
    - Delay in bone age 
    - Short stature

Wait a few years to see if they catch up

86
Q

What are some causes of constitutional delay in growth and puberty?

A

CDGP causes

  • excessive training
  • dieting
  • psychological upset
87
Q

What endocrine suppression tests are there to test for short stature?

A

○ Synacthen (ATCH) test-they should produce cortisol after injection. If not this indicates primary adrenal insufficiency.

○ Dexomethasone suppression test (low-dose and high dose) - exogenous steroid should suppress cortisol levels- if it doesn’t then this indicates Cushing syndrome

○ Glucagon stimulation. Should stimulate Growth Hormone, if not-GH defficiency

88
Q

What heart abnormalities are most common in turners?

A

Congenital heart defects in turners (do BP and echo)

  - most common is bicuspid aortic valve. This can cause an aortic stenosis which manifests as an ejection systolic murmur.
   - coarctation of aorta
89
Q

What investigations are done in suspected turners?

A
  • karyotype 46 XO

- raised gonadotrophins particularly FSH- indicating gonadal failure

90
Q

Most common cause of hypothyroidism in children?

A

The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis.

iodine defficiency is most common cause in developing worlds

91
Q

What is tested for in the newborn heel prick test?

A

-Sickle sell
-Cystic fibrosis
-Congenital hypothyroidism
-Metabolic diseases:
>Phenylketonuria (PKU)
>Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
>maple syrup urine disease (MSUD)
>isovaleric acidaemia (IVA)
>glutaric aciduria type 1 (GA1)
>homocystinuria (pyridoxine unresponsive) (HCU)

92
Q

What is the managment of Phenylketonuria

A

-Phenylketonuria requires low protein diet also must avoid aspartame sweetener

93
Q

How do you prescribe fluids in DKA?

A

4 steps to DKA prescribing in peads

  1. BOLUS
    - if shocked give 20ml/kg bolus in 15 mins (not deducted from deficit)
    - if not shocked give 10ml/kg bolus in 60 mins (this is deducted from deficit
  2. DEFICIT (48 hours)
    % X weight (kg) X 10
    (deduct any bolus for not shocked child)
    -then work out rate in 48 hours
  3. MAINTANANCE (24 hours)
    1st 10kg=100ml/kg 2nd 10kg=50ml/kg other:20ml/kg
    -then work out rate in 24 hours

4.ADD deficit and maintenance rate together

94
Q

Maintenance fluids for children?

A

For the 1st 10kg – 100ml/kg/day
For the 2nd 10kg - 50ml/kg/day
Subsequent kg - 20ml/kg/day

95
Q

Formular for dehydration

What fluids do you give in DKA

A

% dehydration x weight x 10 = deficit mls

0.9% NaCl +/- 5% glucose + 20mmol K (500ml bags)

Peads (29 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions