Endocrine Flashcards

(42 cards)

1
Q

Causes of hyperglycaemia

Pancreatic
Endocrine
Drugs
Inherited disorder

A

Pancreatic
CF, haemachromatosis, pancreatectomy, chronic pancreatitis

Endocrine
Cushing’s, thyrotoxicosis, GH secreting tumour, phaeochromocytoma

Drugs
Thiazides, steroids

Inherited disorders
Friedricks ataxia

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2
Q

Cushing syndrome

4x causes

A

ACTH secreting pituitary tumour
Adrenal cortisol secreting tumour (ACTH low)
ACTH secreting tumour eg Wilms
Exogenous (most common)

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3
Q

Ketotic hypoglycaemia

4x causes
Broad categories

A

Low substrate
(Malnutrition, starvation, IUGR, malabsorption, sepsis)

Liver disease

Enzymatic defects in glycogenolysis
GSD type 1, galactosaemia

Alcohol (inhibits gluconeogenesis)

Reduced level of counterregulatory hormones
Adrenaline, glucagon, cortisol, growth hormone

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4
Q

Non ketotic hypoglycaemia

Ddx

A
Too much insulin
Diabetic overdose 
Insulinoma (islet cell adenoma, insulinoma)
BWS
Exogenous administration
Nesidioblastosis

Rhesus isoimmunisation
Fatty acid oxidation defects
Carnitine deficiency

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5
Q

Syndromic causes of hyperinsulinemic hypoglycaemia

Non-ketotic

A
BWS
Kabuki
T13
Ondine’s curse (central hypoventilation syndrome)
Sotos
Mosaic Turner
Usher
Leprechaunism
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6
Q

Commonest cause of hypoglycaemia

Age 1-7

A

Ketotic hypoglycaemia
Accelerated starvation

Usually starts >1y

Prolonged fast
Intercurrent illness

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7
Q

Factor with greatest impact on growth

Infancy
Childhood
Adolescence

Average growth in childhood
Adolescence

A

Nutrition
Growth hormone
Growth hormone and sex steroids

5-7cm
7-12cm

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8
Q

Endocrinopathies causing growth failure

A
Hypothyroidism 
Growth hormone deficiency 
Cushing syndrome
Precocious puberty 
Hypopituitism
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9
Q

Syndromic short stature

A
Turner
Noonan
Aarsog
Prader-Willi
Russell-Silver
Down syndrome 
Achondroplasia (normal sized trunk; short limbs)
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10
Q

Peripheral precocious puberty

Ddx

A

Adrenal
CAH, Cushing, tumour

Gonadal
Ovarian cyst or tumour, Leydig cell tumour
McCune-Albright

Ectopic
Gonadotrophin secreting tumour (hepatoblastoma, dysgerminoma), exogenous hormone administration

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11
Q

Central precocious puberty

Ddx

A

Trauma
Tumour (hypothalamic harmatoma, NF1)
Haemorrhage
Hydrocephalus

Primary hypothyroidism (PP, short stature, delayed bone age)

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12
Q

Test to distinguish central from peripheral

A

GnRH stimulation test

Central
Baseline elevated LH & FSH; increase in response

Peripheral
Low FSH & LH; blunted

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13
Q

Gynaecomastia

Ddx

A
Pituitary tumour 
Testicular or hepatic oestrogen secreting tumour 
Hypothyroidism/hyperthyroidism 
Liver disease 
Klinefelter 
Testicular failure 
Feminising tumours or drugs
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14
Q

Hypogonadotrophic hypogonadism

Biochemical findings
Syndromic causes

Acquired causes
Associated

Other

A

Low FSH and LH
Kallman (anosmia, microphallus, cryptorchidism, renal defects)
Prader-Willi

Trauma, infection, surgery, congenital malformation
(Other hormones affected)

Chronic disease, hypothyroidism, Cushing, anorexia, athletes

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15
Q

Hypergonadotrophic hypogonadism

Biochemical
Causes

A

Increased LH and FSH

Defective gonads 
Primary ovarian failure 
Turners 
Chemotherapy, radiotherapy 
Primary testicular failure 
Klinefelter
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16
Q

Investigations ambiguous genitalia

3 main

A

Pelvic USS
Karyotype
17 OH progesterone
11 deoxycorticosterone

Electrolytes + BSL
Renal fn. (salt losing crisis)

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17
Q

Micropenis

Ddx

A
Idiopathic 
Hypopituitism, GH or gonadotrophin def
Kallman syndrome
Prader-Willi, Noonan, DS, Smith-Lemli-Opitz
Testicular feminisation sundrome
18
Q

Types of hormones (3)

A

Amine eg. Catecholamines, serotonin

Steroid eg. Cortisol, aldosterone, sex steroids

Peptides eg. Growth hormone, insulin, thyroxine

19
Q

Anatomical relationships to the pituitary gland

Above 
Below
Lateral
Anterior lobe derived from
Posterior lobe derived from
A

Optic chiasm, pituitary stalk, hypothalamus

Sphenoid sinus, nasopharynx

Cavernous sinus, internal carotids, CN 3,4,5,6

Invaginated oral mucosa, rathke pouch

Neuronal tissue, neurons from hypothalamus

20
Q

Growth hormone

Actions

IGF produced where

Nocturnal release during ____ sleep

Controlled by 3 peptides

A

CHO and lipid metabolism

Growth promoting

IGF-1 production in liver

Slow wave

GHRH
Ghrelin (low post prandially and in obesity, high fasting, anorexia)
Somastostatin (inhibitory)

21
Q

TSH

Which subunit is same as LH and FSH

Binds to

TRH secretion controlled by

A

Alpha

Surface receptor on follicular cell, activation of adenylate cyclase

Temperature, somatostatin, dopamine
Glucocorticoids inhibit TSH release at hypothalamic level

22
Q

Normal serum osmolality

Controlled by

  • output of water
  • input of water
A

280-295 mosmo/L

Hypothalamic osmoreceptors
Concentrating ability of kidney

Hypothalamic thirst centre

23
Q

Craniopharyngioma

Presentation
Imaging features

A

Headaches and visual field defects
Endocrinopathy
(Delayed puberty)

Large cystic supratentorial tumour

24
Q

Acquired endocrine problems secondary to tumours or their treatment

A
SS
Pubertal delay or arrest
Precocious puberty 
Thyroid tumours 
Infertility 
Hypopituitism 
Gynaecomastia 

Hyperphagia and obesity

25
What causes hypernatraemic dehydration in DI
Problems with thirst mechanism or insufficient water intake
26
Two hormones required for water excretion Children with combined anterior and posterior pituitary dysfunction may develop dilutional hyponatraemia if......
Cortisol and ADH Cortisol deficient (ie unwell) and receiving DDAVP
27
Central causes of DI
``` Craniopharyngioma Germinoma LCH Idiopathic Trauma ```
28
Causes of SiADH
Meningitis, abscess, trauma, HIE Pneumonia, cavitation Reduced left atrial filling- drugs Malignancy- lymphoma, bronchogenic carcinoma, idiopathic
29
Indication for GH Treatment
``` Congenital or acquired GH deficiency Turner syndrome Chronic renal failure Prader-Willi SGA ```
30
Phases of growth and major factor involved
Infancy - nutrition Childhoods- GH Puberty- sex hormones
31
Factors influencing intrauterine growth
``` Nutrition Genetics Maternal factors (smoking, BP) Placental function Intrauterine infections Endocrine factors- IGF-2 ```
32
Skeletal dysplasias causing short stature
Achondroplasia Hypochondroplasia Mucopolysaccharidoses Spondyloepiphysesl dysplasia
33
Growth issue ``` Achondroplasia Inheritance Clinical features - head -limbs - spine - proportion Complications ```
AD but 50% sporadic ``` Megalocephaly Midface hypoplasia Prominent forehead Short limbs Thoracolumbar kyphosis Disproportionate ``` SS Dental malocclusion Hydrocephalus Recurrent OME
34
Hypochondroplasia ``` Define Inheritance Difference on spinal radiograph cf achondroplasia Complications Presentation age ```
Rhizomelic SS distinct from achondroplasia AD, de novo Stocky/muscular. Age 2-3. Wide variability. No change in interpeduncular distances between L1-L2 SS
35
MPS Inheritance Clinical features-
AR, XL (Hunter) Dysostosis multiplex Short spine and limbs Coarse facial features
36
Russell Silver Define Clinical features Ch15 Ch7
Short stature of prenatal onset ``` Limb asymmetry Short curved fifth finger Small triangular face Cafe au lait Bluish sclerae infancy Normal intelligence ```
37
Delayed BA Ddx Advanced BA
CDGD GH deficiency Hypothyroidism PP Androgen excess eg. CAH GH excess
38
Short stature Inx
``` FBC U+E, Cr Coeliac ab TFTs Microarray IGF-1 Bone age GH provocation tests ```
39
Cushing syndrome effect on growth
Short stature Chronic elevated glucocorticoids inhibits GH secretion
40
Tall stature Ddx
``` Familial Obesity PP Androgen excess: CAH GH excess Thyrotoxicosis Syndromes: - cerebral gigantism - marfan - Klinefelter ```
41
Sotos BW + length ``` Symmetrical or asymmetrical Hands feet size Ears and nose IQ Growth in 1st few years ```
>90th Symmetrical Large hands, feet, ears, nose Decreased IQ Excessive growth first few years which then falls back Clumsy
42
Ddx primary adrenal insufficiency
Inherited enzyme deficiency - CAH (90% 21 hydroxylase) Autoimmune disease - APS 1 + 2 - Schmidt Infection - TB Trauma Adrenal hypoplasia Exogenous steroid