Endocrinology Flashcards
(103 cards)
1
Q
Anterior Pitutary hormones
A
GH
TSH
FSH
LH
ACTH
Prolactin
2
Q
Posterior Pitutary hormones
A
Oxytocin
ADH
3
Q
Posterior pitutary hormones are produced by itself. T/F?
A
No
Hormones are produced by the hypothalamus. They are released by the posterior pitutary.
4
Q
Hormones produced by the adrenal galnds
A
Glucocorticosteroids - Cortisol
Mineralocorticosteroids - Aldosterone
Androgens - Sex hormones
5
Q
What are the main endocrine glands?
A
Hypothalamus
Pitutary gland
Thyroid
Parathyroid
Liver - IGF
Adrenal
Kidney - Renin, EPO
Testes
Uterus - Prolactin
Ovary
Pancreas - Insulin, glucagon, somatostatin
Stomach - Gastrin
Thymus
6
Q
Causes of congenital hypothyroidism
A
Mal descent of the thyroid and thyroid dysgenesis (Commonest)
Dyshormonogenesis, an inborn error of the thyroid hormone synthesis.
Iodine deficiency.
7
Q
Early recognition of congenital hypothyroidism is very important. Why?
A
Early recognition (within 3M of birth) is very important because Congenital Hypothyroidism is one of the few preventable causes of severe learning difficulties.
Delayed Rx will not prevent mental deficiency.
8
Q
C/F of Congenital Hypothyroidism
A
Usually asymptomatic, picked up on screening.
Failure to thrive
Feeding problems
Prolonged Jaundice
Constipation
Pale, cold and mottled skin - Due to poor peripheral blood circulation, due to reduced HR
Coarse facies
Large tongue
Hoarse cry
Goitre (occassionaly)
Umbilical hernia
Delayed development
9
Q
Ix for congenital hypothyroidism
A
T3, T4 - Decreased
TSH - Increased
TSH also decreased in central hypothyroidism
USS - Neck (Whether thyroid gland is present)
TSH test is done with venous blood sampling at 3-5 days of life. If done before 3 - 5 days, may give abnormal result due to maternal thyroxine.
Heel prick test - Prick either side of heel, blot with filter paper. Allow to dry and send to lab. Capillary TSH level can be done before discharge.
If capillary TSH is high, Venous TSH test should be done.
If Venous TSH levels take 1-2 days, Rx can still be started. One +ve test is. enough to begin Rx.
10
Q
Congenital hypothyroidism Mx
A
Early Rx (within 3M) is essential to prevent learning difficulties.
Rx is lifelong with oral Thyroxine, titrating the dose to maintain normal growth, TSH and T4 levels.
Thyroxine is given as a tablet in the morning on an empty stomach.
11
Q
How is the treatment for congenital hypothyroidism deemed adequate?
A
Normal growth (bone age becomes normalized) with height gain specially
Development and cognition becomes normal.
Sx improvement - Eg: bradycardia and constipation
T3, T4, TSH within normal range.
12
Q
What is the cause for jaundice in hypothyroidism?
A
Thyroxine is required for conjugation of bilirubin.
13
Q
C/F of acquired hypothyroidism
A
Females > Males - Because female thyroxine or hormone demand is high. Especially in puberty.
Short stature/ growth failure
Delayed bone age
Cold intolerance
Dry Skin
Cold peripheries
Bradycardia
Thin, Dry hair
Pale, puffy eyes with loss of lateral eyebrows
Goitre (may also be physiological in pubertal girls)
Slow - relaxing reflexes
Constipation
Delayed puberty/Early puberty
Obesity
Slipped Upper femoral Ephiphysis (SUFE)
Deterioration in school work
Learning difficulties
14
Q
Acquired hypothyroidism Mx
A
Ix - TSH level increased, T3 and T4 levels decreased.
Rx is with thyroxine - Not life long.
If an autoimmune disease is suspected, antibody testing also should be done.
15
Q
C/F of Hyperthyroidism
A
Anxiety, restlessness
Increased appetite
Sweating
Diarrhea
Weight loss
Rapid growth in height
Advanced bone maturity
Tremor
Tachycardia (Can lead to arrythmia)
Wide pulse pressure
Warm, vasodilated peripheries.
Goitre (Bruit)
Learning difficulties/behavior problems
Psychosis
Benign Murmur (Functional) - Due to hyper-dynamic circulation.
Eye signs (uncommon in children):
Exophthalmos
Ophthalmoplegia - abnormal eye movements
Lid retraction
Lid lag
16
Q
Causes of hyperthyroidism in children
A
Usually results from Graves disease (autoimmune thyroiditis) - Antibodies bind to thyroid receptors stimulating thyroxine production.
17
Q
Hyperthyroidism Ix
A
T3, T4 levels elevated
TSH suppressed to very low levels.
Antithyroid peroxisomal antibodies may also be present.
18
Q
Hashitoxicosis
A
Continous thyroid stimulation leads to thyroid cell death which in turn causes hypothyroidism
19
Q
Hyperthyroidism Rx
A
Congenital hyperthyroidism settles on its own, after maternal antibodies deplete, within about 3M.
First line rx is medical, with drugs such as carbimazole or propylthiouracil that interfere with thyroid hormone synthesis.
Initially, Beta blockers (proponalol) and be added for Symptomatic relief of anxiety, tremor and tachycardia.
Medical Rx is given for about 2 years, which should control the thyrotoxicosis, but the eye signs may not resolve.
When Medical rx is stopped, 40-75% relapse.
A second course of drugs maybe then be given or subtotal thyroidectomy will usually result in permenant remission.
Radioiodine Rx is simple and is no longer considered to result in later neoplasia.
Follow up is required as thyroxine replacement is often needed for subsequent hypothyroidism.
20
Q
S/E of hyperthyroidism Rx
A
Risk of neutropenia specially with carbimazole.
All families should be warned to seek urgent help and a blood count if sore throat and high fever occur on starting Rx.
21
Q
Causes of Neonatal hyperthyroidism
A
May occur in infants of mothers with Graves disease from the trans placental transfer of Thyroid stimulating Immunoglobulins (TSI).
22
Q
C/F of neonatal hyperthyroidism
A
Tachycardia
Sweating
Irritability
Poor weight gain
Failure to thrive
23
Q
Complications of Neonatal hyperthyroidism
A
Tachycardia
SVT
HF
24
Q
Mx of Neonatal hyperthyroidism
A
Resolves spontaneously with time
Cardiac arrhythmias and HF should be managed accordingly.
Some children will need antithyroid drugs such as carbimazole.
25
Definition of puberty
Transition from a child to an adolescent
26
What results in Puberty?
GnRH pulsatile secretion
27
Sequence of Puberty in F and M
In females,
1st Breast - Thelarche. 8 - 12 years
Pubic hair - Pubarche. Occurs immediately after breast development.
Bleeing - Menarche. After 2.5yrs after puberty starts.
In Males,
1st Testis enlargement (>4ml) - After 9 years
Pubic hair - Between 10-14yrs
voice deepening
Height spurt - When the testicular volume is 12-15ml. After a delay of around 18M.
Height gain first starts in females (about 9-10yrs). Early end too. 11 - 12yrs in males.
28
How is male testis enlargement measured?
Using an orchidometer.
Tesits is palpated using one hand, and the orchidometer with the other.
Usually an endocrinologist conducts this.
29
What is stereognosis?
Ability to decide size by just palpating.
30
Changes in Puberty
In both sexes,
Acne, axillary hair, body odor and mood changes - Irritability, depression, attraction to the opposite sex.
31
Further assessments if puberty is abnormally late or early.
Bone measurement from a hand and wrist x-ray to determine skeletal maturation.
Early Puberty - advanced bone age.
Late puberty - Delayed bone age
In females, pelvic USS to assess uterine size and endometrial thickness.
32
What is precocious puberty?
The development of secondary sexual characteristics before 8yrs old in females and 9yrs old in males is defined as outside the normal range.
33
Cut-off age for precocious puberty in M & F
Males - <9Yrs
Females - <8yrs
34
Types of Precocious puberty
When it is accompanied by a growth spurt
Premature breast development
Premature Pubic hair development
If onset is early - maybe familial (specially in females)
If breast/pubic hair w/o height spurt - Unlike to go into menarche
If with a height spurt - Likely to go into menarche and full puberty
35
What is the difference between True/central and pseudo/Peripheral precocious puberty?
Central - GnRH dependant from premature activation of the hypothalmic-pitutary-gonadal axis.
Normal physiological order will be followed. Breast, Hair, bleeding.
FSH/LH will be high, Height spurt will be present.
Pseudo/ Peripheral - GnRH independant. From excess sex steroids.
Height spurt might not occur. One or two will be present (Breast, Hair and bleeding, etc.)
36
Causes of Precocious Puberty
In males, Usually an organic cause. Is a brain tumor until proven otherwise. Uncommon.
In females, usually idiopathic or familial (FHx in mother/grandmother) and follows normal sequence of puberty. Organic causes are rare.
37
A 4yr old boy presents with testes of 6ml volume. To differentiate between central or peripheral precocious puberty, what is the next step?
Assess for height spurt.
38
How can Testes examination be helpful in determining central or peripheral precocious puberty (PP)?
B/L small testes + Axillary hair - Peripheral PP + adrenal cause (a Tumor or adrenal hyperplasia)
Unilateral enalarged testis + axillary hair - Peripheral PP + Gonadal tumor (Testicular tumor)
B/L enlarged testes + Axillary hair - True PP. Intracranial Lesion.
Tumors in the hypothalamic region are best Ix by crainal MRI scan.
39
Precocious Puberty Mx
Detection and Rx of underling pathology - Ovarian and testicular tumors
Addressing psychological/ behavioral difficulties
GnRH analogues - Goseralin/Zoladex - Keeps GnRH levels constantly high. Prevents pulsatile secretion.
When child is ready to achieve pubertal age, GnRH therapy can be stopped. - Eg: Asking mother about other children in the class.
Zoladex is given as S/C injection.
40
Why is it necessary to delay onset of puberty?
Socially unacceptable
Ultimate Height less - Child will be short as an adult. Growth plates will fuse early.
41
How many stages of breast development is there?
5 Stages
4 and 5 are adult breasts
42
What is premature/isolated thelarche?
Affects females between 6M to 2Yrs of age.
Breast enlargement maybe asymmetrical and rarely progress beyond stage 3.
Differentiated from precocious puberty by the absence of axillary and pubic hair and of a growth spurt.
It is non-progressive and self-limiting.
Mx - Reassurance is enough.
43
What is premature/isolated pubarche (adrenarche)
Pubic hair develops before 8yrs of age in females and before 9yrs of age in males but with no other signs of sexual development.
Mx - Reassurance is enough.
44
What is delayed puberty?
Defined as the absence of pubertal development by 14yrs of age in females and 15years in males.
More common on Males
45
Causes of delayed puberty
1. Often familial in Males, constitutional delay of growth and puberty.
May also be induced by dieting or excessive physical training.
2. Low GnRH secretion (hypogonadotropic hypogonadism) -
Systemic diseases (Any chronic disease cause decreased GnRH): CF, Severe asthma, Crohn's, Organ failure, Anorexia nervosa, starvation, excessive physical training.
Hypothalamo-pitutary disorders: Panhypopitutarism, Isolated GnRH or GH deficeincey, Intracranial tumors (including craniopharyngioma), Kallmann Xd (LHRH deficiency, inability to smell)
Acquired hypothyroidism - can cause delayed and precocious puberty.
3. High GnRH Secretion (hypergonadotropic hypogonadism) -
Chromosomal abnormalities: Klienfelter Xd, Turner Xd
Steroid hormone enzyme deficiencies
Acquired gonadal damage: Post-surgery, chemo. radiotherapy, trauma, testicular torsion, autoimmune disorders.
46
Kallmann Xd
No pubic hair, breasts and no sense of smell
47
Rx of delayed puberty
If familial, Reassurance
Underlying chronic diseases should be treated.
Untreatable diseases such as Turner Xd - Counselling, Oestrogen replacement therapy.
48
Functions of PTH
Promotes bone formation via osteoblasts.
When Ca levels are low, PTH promotes
Bone resorption via osteoclasts
Increase renal uptake of Ca, also phosphate resorption
Activates metabolism of vitamin D to promote gut absorption of Ca
Ultimately results i raised Ca2+ in the body.
49
Types of parathyroid disorders
Hypoparathyroidism - Low PTH, Normal appearance, Low Ca
Pseudohypoparathyroidism - Due to receptor abnormality. Low Ca. Short stature, Round face, Mental retardation, Metacarpal bone short. PTH normal or high.
Pseudopsuedohypoparathyroidism - Appearance as pseudohypoparathyroidism but biochemically normal. Ca Normal.
50
C/F of hypoparathyroidism
Normal looking
Low PTH
Low S. Ca
Raised serum Phosphate (Low renal excretion)
Normal Alkaline Phosphatase (ALP)
Severe hypoCa leads to muscle spasms, fits, stridor and diarrhea, tetany.
Common problem in premature infants, and increasingly seen as a presentation of severe rickets (Osteopenia of prematurity)
51
Signs associated with hypocalcemia
Trosseau's sign - Apply BP Cuff and increase pressure, hand will go into spasms.
Chvostek's sign - Tap on cheek, Mouth will deviate to side of tapping.
52
Causes of hypoparathyroidism
It is rare
In infants - Usually due to a congenital deficiency (DiGeorge Xd), associated with thymic aplasia, defective immunity, cardiac defects and facial abnormalities. Prematurity.
In older children - Usually an autoimmune disorder associated with Addison disease
Surgical removal of parathyroids during surgery or damage to blood supply.
53
Pseudohypoparathyroidism C/F
Due to end-organ resistance to the action of PTH caused by a mutation in the signalling molecule.
S. Ca low and Phosphate high.
PTH levels are N/high
Short stature
Obesity
S/C nodules
Short fourth Metacarpals
Learning difficulties
Cataracts
Renal stones
Round face - Elfin facies
Mental retardation
There maybe teeth enamel hypoplasia and calcification of the basal ganglia - Neurological abnormalities (Gait - Like in parkinson's disease)
54
Pseudopseudohypoparathyroidism C/F
Physical charateristics of pseudohypoparathyroidism but Ca, phosphate and PTH are all normal.
No active Mx needed becauses biochemically Normal.
55
Rx of hypoparathyroidism
Rx of acute symptomatic hypocalcemia with IV infusion of 10% calcium gluconate which should be diluted as extravasation of the infusion will result in severe skin damage.
Chronic hypocalcemia is Rx with oral Ca and high doses of Vit D analogues, adjusting the dose to maintain the plasma Ca concentration just below the normal range.
Hypercalcuria is to be avoided as it may cause Kidney stones, so the urinary Ca excretion should be monitored.
USS abdomen done to check for developing kidney stones - every 6M or so.
56
Hyperparathyroidism C/F
High PTH
High S. Ca, Low phosphate
Constipation, Anorexia, lethargy, behavioural effects, polyuria, polydipsia.
Bony erosions of the phalanges on wrist radiograph.
Renal Calculi
In neonates and young children, associated with some rare genetic abnormalities (Eg: William Xd)
In later childhood, can be secondary to adenomas occurring spontaneously or as a part of the MEN xd's (Multiple endocrine neoplasia)
57
Rx of Hypercalcemia in hyperparathyroidism
Severe hypercalcemia is Rx with rehydration, diuretics
58
Facial features of William Xd
Star like pattern in iris of eyes
Puffy Eyes
Short nose with broad nasal tip
Full cheeks
Small, widely spaced teeth
Full Lips
Small Chin
Wide mouth
59
What is the problem in Rickets?
It signifies a failure in mineralisation of the growing bones or osteoid tissue. Failure of mature bones to mineralise is osteomalacia.
60
Rickets C/F
Failure to thrive/ short stature
Frontal bossing of skull
Craniotabes - Compressible cranial bones
Delayed closure of anterior fontanelle
Delayed dentition/ dental hypoplasia
Rickety rosary
Harrison sulcus - Abnormal ribs
Expansion of metaphyses (Especially wristes) - Swelling in wrists and ankle joints
Cupping and flaying of epiphysis
Widening of epiphysis
Bowing of weight bearing bones
Hypotonia
Seizures
Prominent ribs
Protruding abdomen - due to weak muscles (Ca required for muscle contraction)
Pectus carinatum - pigeon chest
Other features:
1. Suggestive of malnutrition - Pale (Hb def), Angular stomatitis (Cracking of corner of mouth), glossitis (smooth tongue with no papilla)
2. Suggestive of Liver disease - Jaundice
3. Suggestive of renal disease - Pallor, HTN
61
Causes of Rickets
1. Nutritional (Primary) Rickets
Dark skin, Decreased to exposure to sunlight, Maternal Vit D deficiencey, Diets low in Ca, Phosphorus and Vit. D (Eg: Exclusive breast feeding into late infancy), Macrobiotic, strict vegan diets, Prolonged parenteral nutrition in the infancy with an inadequate supply of parenteral Ca and phosphae.
2. Intestinal Malabsorption
Small bowel enteropathy (Eg: Coeliac disease), Pancreatic insufficiency (Eg: Cystic Fibrosis), Cholestatic liver disease, High phytic acids in diet (Eg: Chapatti)
3. Defective production of 25(OH)D2
Chronic Liver Disease
4. Increased metabolism of 25(OH)D3
Enzyme induction by anticonvulsants (Phenobarbital)
5. Defective production of 1,25(OH)2D3
Hereditary type 1 Vit. D resistant rickets, Familial (X-linked) hypophophataemic rickets, Chronic renal disease, Fanconi Xd (Renal loss of phosphate)
6. Target organ resistance to 1,25(OH)3D3
Hereditary Vit. D dependant rickets type 2
62
How to Dx rickets
Blood tests - S. Ca low/N, Phosphate low, ALP greatly increased, 25-hydroxyvitamin D may be low, PTH Elevated.
Serum Phosphate is elevated in renal rickets, because phosphate cannot be excreted in kidney failure.
X-ray of the wrist joints - Shows cupping and flaying of the metaphyses and a widened epiphyseal plate. Less white. Decreased bone density (Osteopenia)
63
Mx of Rickets
Depends on the cause
Nutritional Rickets - Advice about a balanced diet, correction of predisposing risk factors and by the daily administration of vit. D3 (cholecalciferol). IM if malabsorption.
If compliance is an issue, a single oral high dose of Vit. D3 can be given followed by the daily maintenance dose.
Activated Vit. D required in renal or liver disease.
Others - Ca2+ supplementation, Correction of underlying pathology
64
How do we know Rx of rickets is working?
Normalization of Ca, Phosphate and ALP
Correction of Xray appearance
Takes around 6 weeks
65
What is the commonest non-iatrogenic cause of insufficient cortisol and mineralocorticoid secretion?
Congenital Adrenal Hyperplasia (CAH)
66
Cause of CAH
AR
Common in Consanguineous marriages
Deficiency of enzyme 21-hydroxlase which is required for cortisol biosynthesis.
80% affected are unable to produce aldosterone.
When 21-hydroxylase is absent, cortisol and aldosterone decreases while androgens increase.
67
Basic functions of cortisol and aldosterone
Cortisol - Maintains BP, Blood sugar
Aldosterone - Maintains Na balance
68
C/F of CAH
1. Cortisol deficiency increases ACTH production due to the lack of the negative feedback mechanism, this drives overproduction of adrenal androgens and ACTH results in dark pigmentation.
2. Virilisation (male like genitals) of the external genitalia in female infants, with clitoral hypertrophy (mimics a small penis) and variable fusion of the labia (Mimics a scrotal sac). Ambiguous genitalia.
High exposure to androgens for a long time makes them act and think like males, including attraction towards females.
3. In the infant male, Penis maybe enlarged and the scrotum pigmented. No ambiguity. Testis present.
4. A salt losing adrenal crisis in 80% of males, occurs 1-3W of age, presents with vomiting and weight loss, floppiness and circulatory collapse (Hypotension few days after birth).
5. Tall stature, muscular build, adult body odor, pubic hair and acne from excess androgen production, leading to precocious pubarche (pseudo precocious puberty)
6. There maybe a FHx of neonatal death if a salt losing crisis had not been recognised and Rx.
69
CAH Dx
High 17-alpha-hydroxyprogesterone in blood
In salt losers,
Low Plasma Na
Hight Plasma K
Metabolic acidosis due to dehydration
Hypoglycemia
70
CAH Rx
Lifelong glucocorticoids to supress ACTH to allow normal growth and maturation - Oral hydrocortisone
Mineralocorticoids - For salt loss - Fludrocortisone
Salbutamol nebulization/Ca gluconate/Insulin dextrose - To increase K
Monitoring of growth, skeletal maturity and plasma androgens and 17-alpha-hydroxyprogesterone.
Additional Hormone replacement to cover illness (infections) or surgery - Double the dose usually
Males in salt losing crisis require saline, dextrose and hydrocortisone IV
Females require surgery to reduce clitoromegaly and a vaginoplasty before sexual intercourse is attempted.
Ambiguous genitalia requires a team of pediatrics, endocrinologist, urologist, Pediatric surgeon, psychiatrist.
Requires psychological counselling.
71
Causes of Primary adrenal cortical insufficiency / Addison disease
1. Autoimmune - Sometimes in association with other autoimmune endocrine disorders (DM, Hypothyroidism, hypoparathyroidism)
2. Haemorrhage/ infarction - Neonatal, meningicoccal septicemia (Waterhouse-Freidrickson Xd)
3. X-linked adrenoleucodystrophy (adreno - adrenal gland, leuco - white matter), a rare neurodegenerative metabolic disorder - Generally dies within 15yrs of age.
4. TB - Infections
5. May also be secondary to hypopitutarism (Decreased ACTH, in turn decreases Cortisol) from hypothalamic-pitutary disease or from hypothalamic-pitutary-adrenal suppression following long term corticosteroid therapy (Nephrotic Xd)
72
How to differentiate pitutary type addisons from adrenal type?
In Pitutary type - ACTH low, no hyperpigmentation
In Adrenal type - ACTH high, hyperpigmentation
73
A person with dark skin comes, how can you confirm it is due to increased ACTH?
Check whether the person's palms and mucous membranes are dark too. If it is so, ACTH is high.
A person with juts dark skin does not have increased ACTH.
74
How is addisonian crisis prevented in a child that is on steroids?
Steroids should be discontinued slowly. Tailing off of steroids.
75
C/F of addisons disease
Acute - Hyponatremia, hyperkalemia, hypoglycemia, dehydration, hypotension, cairculatory collapse
Chronic - V, Letahrgy, Brown pigmentation (gum margins, scars, skin creases, tongue, palmar creases), Growth Failure
76
Addison's disease Dx
Dx made by finding hyponatremia and hyperkalemia, often associated with metabolic acidosis and hypoglycemia.
Plasma cortisol level is low and the plasma ACTH Concentration is high (except in hypopitutarism).
ACTH test - Using artificial ACTH (synacthen), plasma cortisol concentrations remain low in both primary adrenal failure and in long standing pitutary/hypothalamic addison disease.
A normal response excludes adrenal cortical insufficiency.,
77
How is Addison disease Mx?
An adrenal crisis requires urgent Rx with IV saline, glucose and hydrocortisone.
Long term Rx is with glucocorticoid (Hydrocortisone) and mineralocorticoid (Fludrocortisone) replacement.
If an underlying disease (Such as TB) is found as the reason for addison/adrenal damage, that should also be treated.
78
Causes of Cushing's Xd
1. Long term steroid use - Nephrotic Xd, asthma
2. Maybe ACTH dependant, from a pitutary adenoma or from ectopic ACTH-producing tumors (Lung tumors), but these almost never occur in children.
3. ACTH independant disease is usually from corticosteroid therapy, but maybe from adrenocortical tumors.
79
Effects of high cortisol
HTN
Hyperglycemia
Glycogen breakdown in Liver, muscles
Lipolysis - Peripheral fat mainly
Central fat deposition
Muscle breakdown
80
C/F of cushing's Xd
Moon Face
Excessive facial hair - hirsuitism
Acne
Striae on face, sometimes
Acanthosis nigricans - Dark, velvty appearance of skin
Buffalo hump
Peripheral wasted muscles
Peripheral fat loss
Central fat deposition
Abdominal pink striae - Due to skin thinning by cortisol
Short and obese
Edema
Weak bones - osteopenia, recurrent fractures, AVN of hip
Weak immunity - recurrent infections
HTN and hypergylcemia
Eye damage - Opacification of eye lens - Cataracts
Personality changes - Depression, panic attacks, bipolar affective disorder
Bruising & petechiae
81
Dx of Cushing's Xd
1. Diurnal variation of cortisol (High in the morning, low at midnight) is lost. - Midnight concentration is also high in cushing's.
2. 24h urine free cortisol is high, as well as cortisol levels in saliva is high.
3. Dexamethasone suppression test - After the administration of dexa, there is a failure to supress the plasma 9am cortisol levels.
When LOW dose dexa is given, if cortisol doesn't drop, its cushing's Xd. cortisol levels drop in normal children (When exogenous steroids are administered, internal steroid production decreases)
When HIGH dose dexa is given, if cortisol drops its pitutary cushing's, if it doesn't stop, its adrenal Cushing's.
4. Adrenal tumors are identified on CT or MRI scan of the abdomen and a pitutary adenoma on MRI brain scan.
82
Mx of Cushing's Xd
Find cause and Rx
1. Stop exogenous cortisol if possible.
2. Medical - Cycloheptidine - Decreases cushinoid features by suppressing ACTH action
3. Excise pitutary tumor or other tumors of ACTH secretion.
83
Child presented with weight loss, polyuria, polydypsia, polyphagia and a RBS of 256mg. What's the Dx?
DM
84
How do you Dx Diabetes? What is the cut-off of RBS?
RBS < 200 is normal.
1. A single abnormal blood sugar reading with clinical Sx of diabetes is enough to dx.
2. Two abnormal blood sugar levels is required to dx diabetes if no clinical Sx are present.
85
Types of DM
Type 1 - In children, Low insulin, Thin, FHx rare. Genetic disposition and enviormental precipitants play a role. DKA common. Mx Insulin.
Type 2 - In adults, Insulin resistance, Obese, FHx, DKA uncommon, Mx is oral hypoglycemic drugs (Eg: metformin)
86
Classic triad of DM
Polydipsia
Polyuria
Weight loss - due to sugar and water loss in urine
87
C/F of DM
Classic Triad
Less common - Enuresis, Skin sepsis, Candida and other infections.
Late - DKA Sx
Smell of acetone on breath
V
Dehydration
Abdominal pain
Hyperventilation due to acidosis (Kussmaul breathing)
Hypovolemic shock
Drowsiness
Coma and death
88
Required calorie intake for a Diabetic child
Depends on bodyweight
First 10kg - 110Kilocalories/kg
next 10 - 70/kg
The rest - 40/kg
1g of carbs = 4kilocalories
89
Dx of DM
In a Sx child - Increased RBS >200mg/dl or >11.1mmol/L, glycosuria and ketonuria.
When there is doubt, FBS >126mg/dl or >7mmol/L, or a raised HbA1C (glycosylated Hb)
Type 2 DM should be suspected if there is a FHx from the indian subcontinent, severely obese children with signs of insulin resistance (Acanthosis nigricans, skin tags or polycystic ovary phenotype in teenage girls)
90
DM Mx
1. An educational programme for parents and children,
Basic understanding of pathophysiology of diabetes
Injection of insulin sites and technique -
Deltoid/buttock/thigh/abdomen
Don't give same site repeatedly - risk og lipohypotrophy or lipoatrophy.
Insulin pen at a 90 angle, syringe at 45 angle.
2. Diet - Reduced refined carbs, healthy diet with no more than 30% fat intake
3. Carb counting - estimating the amount of carbs in food to allow calculation of insulin required for each meal or snack. Mother can refer to diabetic food chart.
Portion diet - 3 major meals, 3 snacks (At 10am, 3pm, before going to bed)
4. Adjustment of diet and insulin for exercise - sugary food during exercise.
5. Sick day rules during illness to prevent ketoacidosis - Stress may increase blood glucose, LOA may decrease glucose. Close monitoring of blood sugar and insulin dose must be adjusted accordingly.
6. Blood glucose and blood ketone monitoring (Not available in SL, urine ketone levels are checked).
7. The recognition and staged Rx of hypoglycemia by children.
8. The psycological imapact of a lifelong condition with potentially serious short and long term complications - Neuropathy, vasculopathy, nephropathy.
9. Regular monitoring, check ups
10. During surgery/post op, glucose must be monitored closely.
91
Types of Insulin
1. Rapid acting - Lispro, aspart, glulisine. Can be injected at the start of a meal. Peak at 30-50mins.
2. Short acting soluble human regular insulin. 15-30mins before a meal. Peak 1-3hrs.
3. Intermediate acting - Isophane or zinc insulin. Used to control glucose levels between meals, can be combined with short acting. Peak 4-8hrs. Duration 8-12hrs.
4. Long acting - Taken once a day. Duration 16-24hrs.
5. Mixtard - 1/3 short acting + 2/3 intermediate acting. Morning and night doses. Regime is flexible but meal schedule is fixed.
92
A 30kg child is given Mixtard Insulin. How should he take the dose?
Insulin dose is 1unit/kg/day
Insulin dose = 30units for 30kg
Mixtard is only given twice a day
Morning dose - 2/3 = 20Units
Night dose - 1/3 = 10Units
93
What is Basal Bolus regime?
One long acting basal dose of insulin + 3 short acting boluses.
More flexible meal schedule but fixed regime. Child will have to have insulin doses during the day.
94
Modes of Insulin administration and advices
S/c tissue of upper arm, anterior and lateral aspects of the thigh, the buttocks and abdomen.
Rotation of sites is important to prevent lipohypertrophy, lipoatrophy.
Skin should be pinched up and insulin injected at 45 angle with a syringe (To make sure needle doesn't reach the muscle) and 90 angle from an insulin pen (has a shorter needle).
Storage - Normal refrigerator
Claypot half filled with water.
95
Diet in diabets
Sugary food should be limited, but they should not be completely banned.
Food exchange can be practiced,
Eg: Usually snack at 10am is a hopper, but can be substituted with a piece of cake on Occassion, such as a friend's bday at school. The hopper should not be consumed that day.
In days of physical engagement (Increased physical activity) - Dose of insulin should be adjusted and a little more food should be consumed.
Eg: A piece of chocolate, cake, biscuit to be consumed when they feel a bit dizzy, hungry which maybe the initial signs that their blood sugar has dropped (hypoglycemia).
96
What are the hypoglycemic cut-offs in diabetic and non-diabetic children?
Non-diabetic: <50mg/dl
Diabetic: <72mg/dl, 4mmol/l
97
Clinical presentation and Rx of hypoglycemia in diabetes
Well-defined Sx when blood glucose <72mg/dl or <4mmol/l
Sx are highly individual and change with age, but most complain of hunger, tummy ache, sweating, feeling faint/dizzy.
If unrecognised or untreated, may progress to seizures and coma
Treating at an early stage - administration of easily absorbed glucose in the form of glucose tablets or a non-diet sugary drink/ chocolate.
Conscious child - sugary food
In an unconscious child - IV dextrose 10% 2ml/kg bolus then 10% dextrose slow infusion.
If no canula - IM glucagon (0.5 - 1mg)
After 20mins - 1hr, check blood sugar. Expected to be normal, if not may have to give another bolus.
98
C/F of Hypoglycemia in Non-diabetics
Plasma glucose <50mg/dl
Development of C/F depends on whether other energy substrates can be utilised.
Sweating
Pallor
CNS signs of irritability, headache, seizures, coma.
The neurological sequelae may be permanent if hypoglycemia persists and include epilepsy, severe learning difficulties and microcephaly.
99
Cause of Hypoglycemia
1. Poor Intake
2. Depleted stored - glycogen
3. Poor gluconeogenesis
4. High demand - Eg: In sepsis
Insulin excess - Excess exogenous insulin, Beta cell tumors/ disorders (persistent hypoglycemic hyperinsulinism of infancy (PHHI)), insulinoma, drug induced, autoimmune, Beckwith Xd
Liver disease, Ketotic hypoglycemia of childhood, inborn errors of metabolism (Glycogen storage disorders), Hormonal deficiency (Low GH, Low ACTH, Addison disease, CAH)
Galactosemia, Leucine sensitivity, Fructose intolerance, Maternal diabetes, Hormonal deficiency, Aspirin/ alcohol poisoning
100
Causes of Diabetes Insipidus
1. Reduced ADH production - Central/ cranial DI
2. Resistance to ADH at renal receptor - Nephrogenic DI
101
C/F of Diabetes Inspidus
Polyuria
Polydipsia
Weight loss
102
Ix for Diabetes Insipidus
Urinary Na Low
Urine Osmolarity Low
Urine Specific Gravity Low
Blood Na High
Blood Osmolarity High
103
Diabetes Insipidus Rx
Cranial DI - Desmopressin IV/Nasal/Oral
Nephrogenic DI - Rx underlying renal disease. High doses of ADH can be effective in overcoming resistance.
