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Flashcards in Endocrine Deck (24):
1

Primary causes of short stature (intrinsic growth plate abnormalities)?

Genetic: downs, prader-willi, noonan, turner, silver-russell
IUGR with failure to catch up:fetomaternal factors, prematurity, placental dysfunction
Congenital bone abnormality: achondroplasia-AD condition with mutation of fibroblast GF receptor 3 gene,hypochondroplasia, osteogenesis imperfecta.

2

examples of secondary growth disorders responsible for short stature (growth plates change as a result of the condition)?

endocrine:
hypothyroidism
cushing's syndrome
GH deficiency or insufficiency
laron's syndrome-GH insensitivity
panhypopituitarism
hypothalamic or pituitary lesions e.g. trauma or tumour
precocious puberty
disorders of GH insulin-like GF1 axis

medication: corticosteroid excess

metabolic: glycogen storage disease
mucopolysaccharidoses

DM
chronic disease: CVS, Resp e.g. CF, chronic renal failure, malignancy, neurological e.g. hydrocephalus

malnutrition e.g. IBD, coeliac, anorexia, enzyme deficiencies

psychosocial deprivation including hyperphagic short stature syndrome, failure to thrive

3

physiological causes of short stature?

constitutional short stature (normal variant and often familial)-short parents have short children
maturational delay (often familial)-delay in physical development-late developers

4

what important genetic cause of short stature should be considered in girls?

Turner's syndrome
should do karyotyping

5

how should a child's height relate to their parent's height?

normally falls on centile between the parents' height centiles

6

usefulness of a wrist X-ray in investigating a child with short stature?

can determine bone age:
if delayed, suggests maturational delay, hypothyroidism, GH deficiency or corticosteroid excess.
can make prediction of adult height from it.

7

when would the mid-parental height be unreliable?

if parents' heights are very different

8

how is expected final height calculated?

boys: (M+P+13)/2
girls: (P-13+M)/2

9

which children does NICE recommend the use of somatotropin (GH) to treat short stature?

GH deficiency
Turner syndrome
Prader-Willi syndrome
small for gestational age with subsequent growth failure at 4 years or later
CKD
have short stature homeobox-containing gene (SHOX) deficiency

10

permanent neurological complications of hypoglycaemia?

epilepsy
severe learning difficulties
microcephaly

11

tests to perform when hypoglycaemia is present?

blood: confirm hypo with lab blood glucose
GH, IGF-1, cortisol, insulin, C-peptide, FAs, ketones, glycerol, branded-chain amino acids, acylcarnitine profile, lactate, pyruvate
1st urine after hypo:
organic acids, consider saving blood and urine for toxicology e.g. salicylate, sulphonylurea

12

causes of hypoglycaemia beyond immediate neonatal period?

fasting:
insulin excess-excess exogenous, beta cell tumours/disorders-insulinoma, persistent hypoglycaemic hyperinsulinism of infancy (PHHI), drug-induced, AI, beckwith syndrome
without hyperinsulinaemia-liver disease, ketotic hypoglycaemia of childhood, inborn errors of metabolism e.g. glycogen storage disorders-suspect if hepatomegaly, hormonal deficiency-GH, ACTH, addison disease, CAH**

reactive/non-fasting:
galactosaemia
leucine sensitivty
fructose intolerance
maternal diabetes
hormonal deficiency
aspirin/alcohol poisioning

13

when MUST a blood glucose be checked?

if child becomes septicaemic or appears seriously ill
prolonged seizure
develops an altered state of consciousness

14

how is premature sexual development defined?

development of secondary sexual characteristics in girls below 8 years of age and boys below 9 years of age

15

causes of precocious puberty in girl (secondary sexual characteristics develop early with growth spurt)?

most commonly familial or idiopathic (both are gonadotropin dependent), following normal sequence of puberty
organic causes assoc. with:
dissonance-abnormal sequence of pubertal changes, suggesting androgen excess from CAH or an androgen secreting tumour
rapid onset
neurological signs and symptoms e.g. neurofibromatosis

16

what investigation is helpful in deciding the cause of precocious puberty in girls?

US of ovaries and uterus:
in premature onset of normal puberty, multicystic ovaries and an enlarging uterus will be seen

17

causes of precocious puberty which are gonadotropin indepenedent (low FSH and LH)?

adrenal disorders-tumours, CAH
ovarian-tumour (granulosa cell)
testicular-tumour (leydig cell)
exogenous sex steroids

18

causes of precocious puberty which are gonadotropin dependent (both LH and FSH high, LH more so)?

idiopathic/familial
CNS abnormalities-congenital anomalies e.g. hydrocephalus, acquired e.g. post-irradiation, infection, surgery, or tumours e.g. microscopic hamartomas
hypothyroidism

19

causes of precocious puberty in males?

this is uncommon
usually organic cause, part. intracranial tumours
testes examination may be helpful:
bilateral enlargement suggests gonadotropin release, usually from an intracranial lesion
small testes suggest adrenal cause e.g. tumour or adrenal hyperplasia
unilateral enlarged testis suggests a gonadal tumour

20

best investigation for hypothalamic tumours that may cause precocious puberty?

cranial MRI

21

what disease are children who develop premature pubarche (adrenarche) at risk of developing in later life?

PCOS

22

what other conditions should premature adrenarche be distinguished from?

late-onset CAH or an adrenal tumour
can obtain a urinary steroid profile to help differentiate

23

cause of prader-willi syndrome?

deletion on paternal chromosome 15 (on maternal would cause angelmann syndrome)

24

presentation of prader-willi syndrome?

-dysmorphic features-almond shaped eyes, narrowing of the temples
-obesity
-infertility and hypogonadism
-short stature
-learning disability and behavioural problems
-hypotonia during infancy