Endocrine Flashcards by Anna McCallum

What causes congenital adrenal hyperplasia?

21 hydroxylase deficiency prevent formation of mineralocorticoids and glucocorticoids

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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

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What is the presentation of congenital adrenal hyperplasia?

Severe= neonata salt losing crisis, ambiguous genitalia 
Boys= pseudo-precocious puberty
Girls= hirsutism

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What are the types of adrenal insufficiency?

Primary= autoimmune= Addison's 
Secondary= inadequate ACTH due to pituitary

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What is the presentation of adrenal insufficiency in babies?

Lethargy
Poor feeding, hypoglycaemia, vomiting
Jaundice
Failure to thrive

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What is the presentation of adrenal insufficiency in older children?

N&amp;V 
Poor weight gain
Abdo pain
Muscle weakness/cramps
Developmental delay/poor academic performance 
Bronze hyper pigmentation

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What investigations are done for adrenal insufficiency?

U&Es, glucose
Cortisol, ACTH, aldosterone, renin
Short synacthen test

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What is the management of adrenal insufficiency?

Hydrocortisone and fludrocortisone

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What is a complication of Addison’s?

Addisonian crisis

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What can trigger an Addisonian crisis?

Infection
Traua
Acute illness

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What is the presentation of an Addisonian crisis?

Reduced conciousness
Hypotension
Hypoglycaemia, hyponatraemia
Hypercalcaemia

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What is the management of an Addisonian crisis?

IV hydrocortisone
IV fluids
Correct glucose and electrolytes

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What can cause congenital hypothyroid?

Dysgenesis

Dyshormogenesis

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How is congenital hypothyroid caught?

Newborn screening

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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

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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