Endocrine Flashcards
What causes congenital adrenal hyperplasia?
21 hydroxylase deficiency prevent formation of mineralocorticoids and glucocorticoids
What does 21 hydroxylase deficiency cause?
Dysfunctional salt and glucose balance
Unused steroid precursors become excess sex steroids
Lack of negative feedback control on CRH/ACTH leads to hyperplasia
What is the presentation of congenital adrenal hyperplasia?
Severe= neonata salt losing crisis, ambiguous genitalia Boys= pseudo-precocious puberty Girls= hirsutism
What are the types of adrenal insufficiency?
Primary= autoimmune= Addison's Secondary= inadequate ACTH due to pituitary
What is the presentation of adrenal insufficiency in babies?
Lethargy
Poor feeding, hypoglycaemia, vomiting
Jaundice
Failure to thrive
What is the presentation of adrenal insufficiency in older children?
N&V Poor weight gain Abdo pain Muscle weakness/cramps Developmental delay/poor academic performance Bronze hyper pigmentation
What investigations are done for adrenal insufficiency?
U&Es, glucose
Cortisol, ACTH, aldosterone, renin
Short synacthen test
What is the management of adrenal insufficiency?
Hydrocortisone and fludrocortisone
What is a complication of Addison’s?
Addisonian crisis
What can trigger an Addisonian crisis?
Infection
Traua
Acute illness
What is the presentation of an Addisonian crisis?
Reduced conciousness
Hypotension
Hypoglycaemia, hyponatraemia
Hypercalcaemia
What is the management of an Addisonian crisis?
IV hydrocortisone
IV fluids
Correct glucose and electrolytes
What can cause congenital hypothyroid?
Dysgenesis
Dyshormogenesis
How is congenital hypothyroid caught?
Newborn screening
What is the normal growth pattern in girls?
Grow fast at start of puberty and slow down when breast development matures
Close to final height when period starts
What is the normal growth pattern in boys?
Grow slowly at the start of puberty and accelerate mid puberty
Further growth after pubertal development
What causes gigantism?
Excess growth hormone before epiphyseal plates fuse
What is the usual; cause of gigantism?
Pituitary adenoma
What is the presentation of gigantism?
7-9ft tall
Delay in puberty
Prominent facial features
What investigations are done for gigantism?
Growth hormone
IGF1- insulin like growth factor 1
CT/MRI
What is the management of gigantism?
Manage cause e.g. remove tumour
GH receptor antagonist
Somatostatin analogue
Dopamine receptor agonist
What are common causes of short stature?
Familial
Constitutional
Pathological
What can cause a constitutional short stature?
Delay of growth
Later puberty
What can cause a pathological short stature?
MAlnutritional Chronic illness Iatrogenic Psych and social Syndromes Hormonal
What are some syndromes that can cause short stature?
Turner
Noonan
Achrondroplasia
What hormone problems can cause short stature?
Growth hormone deficiency
Hypothyroid
What is the presentation of growth hormone deficiency?
Poor growth starting from 2-3 years Neonatal- hypoglycaemia, prolonged jaundice, micropenis Excess subcut fat Mild face hypoplasia Delayed skeletal maturation
What investigations are done for short stature?
FBC and ferritin, U&E, LFTs,TFTs, Ca, CRP
Coeliac serology and IgA
prolactin, cortisol, IGF-1
What is early puberty?
Boys <9yo- rare and usually organic
Girls <8yo- common and normally idiopathic/familial
What are some pathological causes of early puberty?
Central precocious puberty
Precocious pseudo puberty
What is central precocious puberty?
Pubertal development, growth spurt and advanced bone age
Gonadotrophin dependent- high FSH and LH
What is pseudoprecocious puberty?
Gonadotrophin independent abnormal sex steroid secretion
What os delayed puberty?
Boys >14= common
Girls >13= rare
What can cause delayed puberty?
Constitutional delay of growth and puberty- usually in boys with FH
Gonadal dysgenesis
Chronic disease
Peripheral causes- cryptorchidism, testicular radiation
Impaired hypothalami-pituitary-gonadal axis
