Endocrinology Flashcards

Question

What is the treatment for congenital hypothyroidism?

Answer 1

Oral replacement of thyroxine - levothyroxine | Titration of dose to maintain normal growth, TSH, and T4 levels

Answer 2

Graves disease | Secondary to production of thyroid stimulating immunoglobulins

Answer 3

Eye features less common Low TSH, high T3/T4 ``` Anxiety, restlessness Increased appetite Sweating, diarrhoea, weight loss, rapid growth in height Tremor, tachycardia Goitre Learning difficulties ```

Answer 4

Carbimazole or propylthiouracil - interferes with thyroid hormone synthesis Beta blockers for symptomatic relief Risk of neutropenia - seek help if sore throat and high fever Treatment given for 2 years, many relapse

Answer 5

Congenital deficiency - Di George syndrome | Associated with thyme aplasia, defective immunity, cardiac defects, facial abnormalities

Answer 6

Primary - Addison's, adrenal glands damaged Secondary - inadequate ACTH stimulating glands - congenital hypoplasia, surgery, infection, loss of blood flow, radiotherapy Tertiary adrenal insufficiency - inadequate CRH release from hypothalamus, due to long term steroids

Answer 7

``` Lethargy Vomiting Poor feeding Hypoglycaemia Jaundice Failure to thrive ```

Answer 8

Nausea and vomiting Poor weight gain or weight loss Reduced appetite (anorexia) Abdominal pain Muscle weakness or cramps Developmental delay or poor academic performance Bronze hyperpigmentation to skin in Addison’s caused by high ACTH levels. ACTH stimulates melanocytes.

Answer 9

``` U&Es - hyponatraemia, hyperkalaemia Blood glucose - hypoglycaemia Cortisol ACTH Aldosterone Renin ```

Answer 10

Low cortisol High ACTH Low aldosterone High renin

Answer 11

Low cortisol Low ACTH Normal aldosterone Normal renin

Answer 12

Used to confirm adrenal insufficiency Given synacthen, blood cortisol measured baseline and then 30-60 mins after Synthetic ACTH should stimulate adrenal glands to produce cortisol, if not - less than double - primary insufficiency

Answer 13

Replacement steroids Hydrocortisone = cortisol Fludrocortisone = aldosterone Steroid card, do not miss a dose Dose increased during acute illness

Answer 14

Reduced consciousness Hypotension Hypoglycaemia, hyponatraemia, hyperkalaemia Can be first presentation, triggered by infection, trauma or acute illness

Answer 15

Intensive monitoring if unwell Parenteral steroids e.g. IV hydrocortisone IV fluid resuscitation Correct hypoglycaemia Careful monitoring of electrolytes and fluid balance

Answer 16

Congenital deficiency of hydroxylase enzyme causing underproduction of cortisol and aldosterone Overproduction of androgens from birth Inherited in autosomal recessive pattern

Answer 17

No conversion of progesterone to aldosterone and cortisol Conversion to testosterone does not rely on this enzyme So low aldosterone, low cortisol and abnormally high testosterone

Answer 18

Ambiguous genitalia Enlarged clitoris due to high testosterone Hyponatraemia, hyperkalaemia, hypoglycaemia Poor feeding, vomiting Dehydration Arrhythmias

Answer 19

Symptoms tend to be related to high androgen levels Hyperpigmentation because pituitary responds to low cortisol by producing ACTH Tall for age, facial hair Absent periods Deep voice Early puberty Large penis, small testicles

Answer 20

Cortisol replacement - hydrocortisone Aldosterone replacement - fludrocortisone May require corrective surgery

Answer 21

Congenital - disruption of growth hormone axis at hypothalamus or pituitary Due to genetic mutation Acquired growth hormone deficiency - secondary to infection, trauma, interventions

Answer 22

In birth/neonates: micropenis, hypoglycaemia, severe jaundice ``` Older children: Poor growth - stopping/slowing age 2-3 Short stature Slow development of movement and strength Delayed puberty ```

Answer 23

Growth hormone stimulation test - response to medications normally stimulating release of GH e.g. glucagon, insulin, arginine, clonidine Test for associated deficiencies e.g. thyroid, adrenal MRI brain - pituitary or hypothalamus abnormalities Genetics e.g. Turners, P-W X-Ray usually of wrist or DEXA scan to determine bone age and final height

Answer 24

Daily subcutaneous injections of growth hormone - somatropin Treatment of other associated hormone deficiencies Close monitoring of height and development

Answer 25

Lack of ADH or lack of response to ADH Prevents kidneys from concentrating urine, leads to polyuria and polydipsia

Answer 26

Collecting ducts do not respond to ADH Drugs - lithium in BAD Genetic mutations coding for the ADH receptor Intrinsic kidney disease Electrolyte disturbances - hypokalaemia, hypercalcaemia

Answer 27

Hypothalamus does not produce ADH for pituitary glands to secrete Can be idiopathic or: Brain tumours, malformations Head injury Infection - meningitis, encephalitis, TB Brain surgery, radiotherapy

Answer 28

``` Polyuria Polydipsia Dehydration Postural hypotension Hypernatraemia ```

Answer 29

Low urine osmolality High serum osmolality Water deprivation test - desmopressin stimulation test: No fluids for 8 hours Urine osmolality measured Synthetic ADH - desmopression administered 8 hours later measured again In central - patient lacks ADH, so when given osmolality is high as kidneys now respond and reabsorb water concentrating urine If nephrogenic - will remain low

Answer 30

Desmopression to replace ADH | Treatment of underlying cause e.g. if due to drugs stop, treatment of electrolyte disorder

Answer 31

Deficient intake or defective metabolism Causes low serum calcium Triggers secretion of PTH and demineralises bone

Answer 32

Bony deformity, rickets | Symptoms of hypocalcaemia - seizures, neuromuscular irritability/tetany, apnoea, stridor

Answer 33

Ping pong ball sensation over the skull - craniotabes Elicited by pressing on occipital/parietal bones Wrists and ankles widened Harrison sulcus on chest Delayed closure of anterior fontanelle Misery Failure to thrive

Answer 34

``` Nutritional - primary rickets Living in northern latitudes Dark skin Decreased exposure to sun Diets low in calcium, phosphorous, Vit D ``` Intestinal malabsorption Coeliac, CF, liver disease High phytic acids in diet e.g. chapattis Defective production of 25 (OH)D2, increased metabolism, defective productive of active VitD

Answer 35

Dietary history for vit and calcium intake Blood tests x-ray of wrist joint - shows cupping and fraying of the metaphases, widened epiphyseal plate

Answer 36

Advice on balanced diet Correction of risk factors Daily administration of Vit D3 - cholecalciferol Healing takes 2-4 weeks, monitored by lowering alkaline phosphatase

Answer 37

``` Orthopaedic - SUFE, bow legs, abnormal foot structure Idiopathic intracranial HTN Hypoventilation syndrome, sleep apnoea Gallbladder disease PCOS T2 DM HTN Abnormal blood lipids Other medical and psychological sequelae ```

Answer 38

>91st centile overweight | >98th centile obese

Answer 39

Treat endogenous cause Healthier eating Increase in habitual physical activity Reduce physical inactivity e.g. small screen time to less than 2h per day Drug treatment Orlistat reduces absorption of dietary fat, produces steatorrhoea Metformin if any evidence of insulin insensitivity

Answer 40

First 2 years - rapid growth driven by nutritional factors From 2 years to puberty: steady slow growth During puberty - rapid growth spurt driven by sex hormones

Answer 41

One or more centile spaces if their birthweight was below the 9th centile Two or more centile spaces if their birthweight was between the 9th and 91st centile Three or more centile spaces if their birthweight was above the 91st centile

Answer 42

``` Inadequate nutritional intake Difficulty feeding Malabsorption Increased energy requirements Inability to process nutrition ```

Answer 43

``` Maternal malabsorption if breastfeeding Iron deficiency anaemia Family or parental problems Neglect Availability of food ```

Answer 44

Poor suck e.g. cerebral palsy Cleft lip or palate Genetic conditions Pyloric stenosis

Answer 45

``` CF Coeliac disease Cows milk intolerance Chronic diarrhoea IBD ```

Answer 46

Hyperthyroidism Chronic disease e.g. congenital heart disease and CF Malignancy Chronic infections e.g. HIV, immunodeficiency

Answer 47

Inborn errors of metabolism | Type 1 diabetes

Answer 48

More than 2 standard deviations below average for age and sex

Answer 49

Familial short stature Constitutional delay in growth and development Malnutrition Chronic diseases e.g. coeliac, IBD, congenital heart disease Endocrine e.g. hypothyroid Genetic conditions e.g. Downs Skeletal dysplasia e.g. achondroplasia

Answer 50

Delayed bone age - x-ray assesses size and shape of bones and growth plates

Answer 51

Turner's Prader Willi Noonan's

Answer 52

PCOS Androgen insensitivity Kallman's syndrome Klinefelter's

Answer 53

When physical changes e.g. breast and testicular development have not begun before the age of 14

Answer 54

Increased production of androgens in adrenal glands, in girls converted to oestrogen Leads to increased sebaceous gland activity Acne, sweating Hair growth Body odour

Answer 55

Tanner Staging

Answer 56

Average age is 12.9 | Usually coincides with Stage 3 of breast development

Answer 57

Testicular enlargement, measured with an orchidometer Increased pigmentation Scrotal thickening Penile growth and thickening

Answer 58

Gynaecomastia | Initial imbalance of oestrogen and androgens at onset

Answer 59

True - early activation of hypothalamic pituitary axis | False - gonadotrophin independent, isolated development of one pubertal characteristic

Answer 60

Deficiency of LH and FSH Deficiency of testosterone and oestrogen as gonads not stimulated ``` Previous damage e.g. radiotherapy Growth hormone deficiency Hypothyroidism Hyperprolactinaemia Serious chronic conditions Excessive exercise/dieting Constitutional delay in growth and development Kallman syndrome ```

Answer 61

Where gonads fail to respond to stimulation No negative feedback, so AP produces more and more LH/FSH Previous damage to gonads Congenital absence of testes or ovaries Kleinfelter's Turner's XO

Answer 62

Girl - 13, boy - 14 if no evidence of any changes History, height, weight FBC, ferritin - anaemia U&Es - CKD Anti-TTF, anti-EMA Early morning serum FSH and LH, TFTs, GH, PL Microarray for Kleinfelter's, Turner's Imaging X-ray of wrist - bone age Pelvic US - ovaries MRI - pituitary pathology

Answer 63

Development of secondary sexual characteristics before 8 years in females, 9 in males More common in females

Answer 64

Central malformation or damage e.g. hydrocephalus, neurofibromatosis Acquired - post-sepsis, surgery, radiotherapy, trauma Brain tumours

Answer 65

``` Increased adrenal activity Congenital adrenal hyperplasia Gonadal tumour Hypothyroidism McCune Albright syndrom ```

Answer 66

Not inherited Due to random somatic mutation Precocious puberty Cafe au lait spots Polyostotic fibrous dysplasia Short stature

Answer 67

Familial tall stature ``` Endocrine disorders: Precocious puberty Hyperthyroidism Glucocorticoid resistance GH excess ``` ``` Nonendocrine disorders: Exogenous obesity Klinelter's 47,xxy Marfan Homocystinuria Neurofibromatosis type 1 Beckwith-Wiedemann Syndrome - overgrowth disorder, increase of childhood cancer ```

Answer 68

``` Karyotype T4, TSH IGF-1 Bone age assessment Predication of final height ``` ``` Serum LH, FSH Testosterone Glucose suppression for GH Visual field examination MRI of pituitary Serum cortisol Serum prolactin ```

Answer 69

Abnormal linear growth due to growth hormone excess Leads to IGF-1 synthesis, cell growth and proliferation Tall stature Growth of distal limbs Tumour mass symptoms - hypopituitarism Progressive macroencephaly Coarse facial features

Answer 70

Raised serum IGF-1 Raised GH after oral glucose tolerance test MRI can show pituitary mass CT if MRI negative - exclude other GH secreting tumours e.g. pancreas, adrenal glands, ovarian, bronchial

Answer 71

GH hyper secretion before fusion of long bone epiphysis, acromegaly is after fusion leading to large extremities and characteristic facies

Answer 72

Transsphenoidal surgery - pituitary adenoma excision Somatostatin analogs GH receptor antagonists

Answer 73

Autosomal dominant connective tissue disorder Defect that codes for protein fibrillin -1

Answer 74

Tall stature Arm span to height ratio >1.05 High arched palate Arachnodactyly Pectus excavatum Pes Plans Scoliosis >20 degrees Heart - dilation of aortic sinuses - aortic aneurysm, aortic dissection, aortic regurgitation Lungs - repeated pneumothoraces Eyes - upwards lens dislocation, blue sclera, myopia Dural ectasia - ballooning of the dural sac