Paeds- Endo and Reproductive Flashcards
give the fasting, OGTT and HbA1c levels for:
diabetes
fasting- >7mmol/L
OGTT- >11.1mmol/L
HbA1c- >6.5%
give the fasting, OGTT and HbA1c levels for:
normal levels
fasting- 3.5-5.6mmol/L
OGTT- <7.8mmol/L
HbA1c- 4-5.6%
give the fasting, OGTT and HbA1c levels for:
impaired glucose tolerance/ pre-diabetes
fasting- <7mmol/L
OGTT- 7< x <11 mmol/L
HbA1c- 5.7-6.4%
symptoms of DKA
- vomiting
- acidosis
- reduced conscious level
- ketonuria
- Kussmaul breathing
- ketonic breath
how is DKA managed?
- resuscitate
- correct dehydration
- insulin after 1 hour- wait 1 hour to reduce hypokalaemia risk
- monitor
aetiology of hypoglycaemia
- excess exogenous insulin (e.g. too much insulin in a diabetic patient)
- B-cell tumour
- non-insulin causes- liver disease, ketonic hypoglycaemia, addisons
how is severe hypoglycaemia managed?
- nil by mouth
- glucagon SC or IM injection
- glucose IV
- give sugar when conscious
congenital causes of hypothyroidism
- maldescent of thyroid
- dyshormonogenesis
- iodine deficiency
- TSH deficiency- pituitary dysfunction
acquired causes of hypothyroidism
prematurity
Hashimotos
Downs
how does a paediatric patient present with congenital hypothyroidism?
- difficult- features become more obvious with age
- faltering growth
- prolonged jaundice
- constipation
- large tongue
- goitre
- umbilical hernia
- delayed development
how does a paediatric patient present with acquired hypothyroidism?
- short stature
- cold intolerance
- dry skin
- bradycardia
- thin, dry hair
- delayed puberty
- obesity
how is hypothyroidism managed?
levothyroxine
what is a major complication of hypothyroidism and how is it managed?
thyroid storm !
IV hydrocortisone, IV fluids and propanolol
what is congenital adrenal hyperplasia?
most common non-iatrogenic cause of insufficient cortisol and mineralocorticoid secretion
results in decreased cortisol and mineralocortoids
and INCREASED sex hormones
what enzyme is commonly deficient in patients with congenital adrenal hyperplasia?
21-hydroxylase
how does congenital adrenal hyperplasia present in females?
Virilisation of external genitals
clitoral hypertrophy
variable fusion of labia
how does congenital adrenal hyperplasia present in males?
enlarged penis and pigmented scrotum (precocious puberty)
describe the presentation of a salt-losing adrenal crisis in males
- weight loss
- vomiting
- hypotonia and circulatory collapse
how is congenital adrenal hyperplasia diagnosed?
raised levels of 17 alpha-hydroxy-progesterone in blood
how is salt-losers adrenal crisis in CAH diagnosed?
- low plasma sodium
- high plasma potassium
- metabolic acidosis
- hypoglycaemia
how is salt-losers adrenal crisis managed?
sodium chloride, glucose, IV hydrocortisone
describe the long-term management of congenital adrenal hyperplasia
- lifelong glucocorticoids (hydrocortisone)
- mineralocorticoids (fludrocortisone)
- monitor growth, skeletal maturity and plasma androgen levels
what is Kallmann’s?
hypogonadotrophic hypogonadism
x-linked recessive trait causing failure of GnRH secreting neurons
describe the classic features of Kallmann’s in a boy
lack of smell (anosmia) and delayed puberty
give some features of Kallmann’s
- delayed puberty
- hypogonadism
- anosmia
- cleft lip/ palate
- tall
what is Precocious puberty?
development of sexual characteristics before 8 years in females and 9 years in males
what is thelarche?
first stage of breast development
what is adrenarche?
maturation of the adrenal gland, leading to androgen production- causing body odour and mild acne
how can Precocious puberty be classified?
- gonadotrophin dependent
- gonadotrophin independent
how can gonadotrophin dependent and independent precocious puberty be differentiated?
FSH and LH raised in dependent, low in independent
what does bilateral enlargement of the testes indicate?
gonadotrophin release from intracranial lesion
what does unilateral enlargement of a teste indicate?
gonadal tumour
if the testes are small, what can this imply?
adrenal cause (tumour/ adrenal hyperplasia)
what is androgen insensitivity syndrome?
X-linked recessive condition due to end-organ resistance to testosterone causing a genotypically male child (46XY) to have a female phenotype
features of androgen insensitivity syndrome
primary amenorrhoea
undescended testes causing groin swelling
breast development
how is androgen insensitivity syndrome diagnosed?
buccal swear or chromosomal analysis to show 46XY
how is androgen insensitivity syndrome managed?
- counselling- raise child as female
- bilateral orchidectomy (as there is an increased risk of testicular cancer)
- oestrogen therapy
where are palpable undescended testes typically felt?
external inguinal ring
what scale is used to describe physical development based on external sex characteristics?
Tanner
what is pubarche?
growth of pubic hair
what is the first sign of puberty in boys?
first ejaculation and testicular size >3ml
define delayed puberty
The absence of secondary sexual characteristics by age 14 or 16
what is the most common cause of delayed puberty in boys?
constitutional delay (runs in family)
most common cause of delayed puberty in girls
Turner syndrome (45X0)
Give 3 consequences of delayed puberty
- psychological problems
- reproduction defects
- reduced bone mass
how is delayed puberty investigated?
FBC, U&E, TFT, LH/FSH, karyotyping
how is precocious puberty treated?
GnRH super-agonists can suppress GnRH secretion
What is hypergonadotropic hypogonadism?
Primary gonadal failure e.g. testes/ovarian failure
What is the affect of hypergonadotropic hypogonadism on the following:
a) FSH/LH.
b) Oestrogen/testosterone.
a) High FSH/LH.
b) Low oestrogen/testosterone
Name 2 diseases that are examples of hypergonadotropic hypogonadism.
- Turner syndrome (45X0).
2. Klinefelter syndrome (47XXY).
What is hypogonadotropic hypogonadism?
Secondary gonadal failure e.g. hypopituitary or hypothalamic problem.
What is the affect of hypogonadotropic hypogonadism on the following:
a) FSH/LH.
b) Oestrogen/testosterone.
a) Low FSH/LH.
b) High oestrogen/testosterone.
Name a disease that is an example of hypogonadotropic hypogonadism.
Kallman syndrome.
Give 5 signs of Turner syndrome.
- Delayed puberty.
- Short stature
- Recurrent otitis media.
- CV and renal malformations.
- Webbed neck.
Give 3 signs of Klinefelter syndrome.
- Azoospermia - semen contains no sperm.
- Gynaecomastia - enlargement of male breast tissue.
- Testicular size <5ml.
- Reduced pubic hair.
- Tall stature.
