Brainscape's Knowledge GenomeTM

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


See full index

Y4 Paeds CCs > 5. Metabolic + Endocrine > Flashcards

5. Metabolic + Endocrine Flashcards

1
Q

What is the average birth weight and what rate should it increase at?

A

-Average = 3.3kg / 7lb 4
-Should double by 5 months
-Should triple by 1 year
-Between ages 1-10, expected weight in kg = age+4 x 2

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

What is the average head circumference at birth?

A

-35cm
-Should be 19% of bodyweight at birth compared to 9% at 15y/o

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

What is the peak age of onset for T1DM?

A

2 peaks:
-5-7 years
-Puberty (increased insulin requirement)
-90% destruction of beta cells before symptoms start

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

What glucose test results are diagnostic of diabetes?

A

-Random BG >11 mmol/L
-Fasting (6h) glucose >7 mmol/L
-OGTT 2h level >11 mmol/L
-HbA1c >48

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

How often should someone with diabetes check their BG?

A

4 times a day - before each meal and before bed
-More frequent if high frequency of hypoglycaemic episodes

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

How is hypoglycaemia defined?

A

BG <2.2-2.6 mmol/L

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

How does hypoglycaemia present and how is it managed?

A

Commonly occurs over night, high risk when starting treatment
-Fainting, dizziness
-Sweaty
-Lethargic
-Coma / seizures
MANAGEMENT:
-Glucogel
-Sugary drinks
-Bread
-Consider IV glucose / IM glucagon if symptomatic

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

What is the protocol for fluid resuscitation in paediatric DKA?

A

Reduced volume due to risk of cerebral oedema
1. If <10kg - 2ml/kg/hr
2. If 10-40kg - 1ml/kg/hr
3. If >40kg - 40ml/hr

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

What is MODY?

A

-Maturity Onset Diabetes of the Young
-Development of T2DM <25
-Autosomal dominant condition
-Less severe than T1DM
-Sulfonylureas often adequate for management but may require low dose insulin

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

What children are more at risk of developing T2DM?

A

-Obese children
-South Asian ethnicity
-IUGR
-LBW

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

How is failure to thrive defined?

A

-Less than expected growth over time during the first 3 years of life
-Weight gain is usually first affected

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

What commonly causes a child to fail to thrive?

A

-Psychosocial causes = most common
-Malabsorption eg coeliac disease, CF, reflux, pyloric stenosis
-Chornic illness
-Familial causes eg constitutionally small child, Turner’s syndrome

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

What should be looked for on examination of a child failing to thrive?

A

-Signs of dehydration
-Cleft lip / palate (swallowing issues)
-Signs of neglect
-Growth chart

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

What causes congenital adrenal hyperplasia / ambiguous genitalia?

A

-Y chromosome has sex determining gene so if absent, gonads become ovaries (female)
-Ambiguous genitalia is a consequence of CAH
-Can be an endocrinological emergency
PATHOPHYSIOLOGY:
-Inadequate production of cortisol
-Consequential rise in ACTH leads to adrenal hyperplasia and over-production of androgenic cortisol precursors
-Ovaries + male external genitalia

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

How is CAH managed?

A

-Glucocorticoid therapy and surgical correction at puberty (usually female gender assignment)

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

What features does androgen insensitivity syndrome have?

A

-46XY - testes present but external genitalia female / ambiguous
-X-linked recessive
-Male genotype, female phenotype
-No uterus
-Testosterone, oestrogen and LH all elevated

17
Q

What features does 5-alpha reductase deficiency have?

A

-46CY - ambiguous genitalia, hypospadias
-Autosomal recessive
-Unable to convert testosterone into dihydrotestosterone

18
Q

How would you examine a child with ambiguous genitalia?

A

-Palpable gonads? Bilateral?
-Penile length <2.5cm / Clitoris length >1cm
-Hypospadias? Undescended testes?
-Separation of scrotal sacs

19
Q

How is precocious puberty defined and what are its features?

A

-Early onset and rapid progression of puberty
–Females <8yrs
–Males <9yrs
FEATURES
-Thelarche (development of breasts)
-Adrenarche (pubic hair development)
-Tall stature, boys testes >4ml
-Cafe au lair spots

20
Q

What investigations would you consider in a child with precocious puberty?

A

-Bone age assessment
-FSH+LH
-Serum testosterone, oestrogen
-USS pelvis

21
Q

What causes precocious puberty?

A

Can be either central or peripheral in origin:
Gonadotrophin-DEPENDENT (ie central)
-Raised FSH/LH due to early physiological activation of the hypothalamic-pituitary-gonadal axis
-Can treat with GnRH agonists
-NORMAL sequence of puberty observed
Gonadotrophin-INDEPENDENT
-Sex steroids sourced exogenously or endogenously
-So FSH/LH are low
-Managed with ketoconazole or cyproterone
-ABNORMAL sequence of puberty observed

22
Q

How is delayed puberty defined?

A

-Lack of initiation and progress of puberty
-Females >13yrs
-Males >14 yrs

23
Q

What can cause delayed puberty?

A

FUNCTIONAL - constitutional delay, malnutrition, excessive exercise
SHORT STATURE - Turner’s, Prader-Willi, Noonan’s
NORMAL STATURE - PCOS, androgen insensitivity, Kallman’s, Klinefelter’s

24
Q

What features do Kallman’s and Klinefelter’s syndromes have?

A

KALLMAN’s = hypogonadotrophic hypogonadism
-X-linked recessive
-Failure of GnRH neurons to migrate to hypothalamus
KLINEFELTER’S = lack of secondary sexual characteristics
-47XXY
-Gynaecomastia and small, firm testes

25
Q

How is delayed puberty managed?

A

-Exogenous sex steroid therapy to induce puberty

26
Q

What are the causes and features of congenital hypothyroidism?

A

-Usually caused by thyroid dysgenesis
-Non-specific symptoms - jaundice, constipation, hypotonia
-Should have neonatal test in first week of life - USS to confirm dysgenesis
-Treat with oral thyroid hormone replacement + monitor

27
Q

What can cause acquired hypothyroidism?

A

-PRIMARY (raised TSH, low T3/4)
–Autoimmune ie Hashimoto’s
–Iodine deficiency
–Thyroiditis
–Drugs
-CENTRAL (low TSH, low T4) - pituitary/hypothalamic dysfunction
–Intracranial tumours / masses
–Radiotherapy
–Developmental pituitary defects

28
Q

What effects does hypothyroidism have on children?

A

-Profound effect on growth –> short stature often presenting sign
-Drop in school performance
-Constipation
-Dry skin
-Delayed puberty
-Weight gain
-Delayed bone age
-Fatigue
-Hip pain / lump

29
Q

What endocrine causes are there for obesity?

A

NB very rare
-Growth hormone deficiency
-Hypothyroidism
-Cushing’s
-Hypothalamic lesions

30
Q

What consequences does obesity have for children?

A

-Orthopaedic problems - slipped upper femoral epiphyses
-Asthma
-Sleep apnoea
-Benign intracranial hypertension
-PCOS
-Impaired glucose tolerance
-HTN
-Dyslipidaemia
-High risk of adult obesity, T2DM, ischaemic heart disease

31
Q

What is phenylketonuria?

A

-Genetic defect in phenylalanine hydroxylase (converts phenylalanine to tyrosine)
-Autosomal recessive, chromosome 12
-Phenylalanine is found in many protein-rich foods eg milk, eggs
-Can cause brain damage and seizures if accumulates

32
Q

How does phenylketonuria present?

A

-Developmental delay by 6 months
-Learning difficulties
-Seizures
-Eczema
-Musty odour to urine and swear

33
Q

What investigations can be done to diagnose phenylketonuria?

A

-Guthrie test (heel prick done at 5-9 days)
-Urine dip to show ketones / phenylpyruvic acid in urine

34
Q

How is phenylketonuria managed?

A

-Diet adaptation

35
Q

What can cause a steady growth below gentiles in children?

A

-Constitutional (short parents)
-Constitutional delay in growth eg delayed puberty onset
-Turner’s syndrome
-IUGR
-Skeletal dysplasia eg achondroplasia
-Chronic illness eg IBD, CF, malnutrition
-Endocrine problems eg growth hormone insufficiency, hypothyroidism
-Anorexia

36
Q

How should a child with short stature be investigated?

A

-Bloods - FBC, TFTs, U+Es, vitamin D, iron, B12, folate, coeliac screen
-Genetics - karyotype + sweat test
-Endocrine tests
-Growth chart
-Bone age assessment
-Uterus / ovary scan

37
Q

What is important to ask about in the history for a child with short stature?

A

-Birth weight / delivery history / gestational age
-Feeding history
-Family history - height of parents
-Nutritional history
-Associated symptoms suggestive of systemic disease
-DH, SH eg diet

Y4 Paeds CCs (25 decks)

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