Common Adrenal Disorders in Children

1
Common Adrenal Disorders in Children

• Dr Sarar Mohamed
• FRCPCH (UK), MRCP (UK), CCST (Ire), CPT (Ire),
• DCH (Ire), MD
• Consultant Paediatric Endocrinologist
  Metabolist
• Assistant Professor of Pediatrics
• King Saud University

2
Endocrine Glands
3
Agenda

• Anatomy and physiology of adrenal
• Causes of adrenal insufficiency
• Addison Disease
• Adrenal crisis
• Congenital adrenal hyperplasia
• Cushing Syndrome

4
(No Transcript)
5
(No Transcript)
6
(No Transcript)
7
ADRENAL MEDULLA The principal cells of the
medulla are the chromaffin cells. They secretes
adrenaline noradrenaline. .
8
ADRENAL GLAND Adrenal Cortex, Function
MINERALOCORTICOIDS regulate sodium retention
and potassium loss and body fluid GLUCOCORTICOIDS
act as anti-inflammatory agents affect
metabolism. ANDROGENS regulates growth and
development of genetalia and puberty Adrenal
Medulla, Function ADRENALINE (EPINEPHRINE)
increases heart rate and blood pressure. NORADRENA
LINE (NOREPINEPHRINE) constricts arterioles.
9
Pattern of cortisole level during the day
10
(No Transcript)
11
Aldosterone

• Mineralocorticoid
• Regulates concentration of Na and K.
• Kidney conserves Na.
• Kidney excretes K.
• Responds to changes in composition of plasma.
• Regulated by renin-angiotensin system of kidney

12
Regulation of adrenal gland secretion
ACTH
Cortisol
Cortisol
13
Adrenal Dysfunction

• Decrease function

• Increase function

• Adrenal insufficiency
• Low cortisol, aldestrone
• Eg Addison disease

• Cushing syndrome
• High Cortisol
• Hyperaldosteronism
• High aldestrone
• Pheochromocytoma
• High catecholamine

14
Causes of Adrenal insufficiency

• Congenital adrenal hyperplasia
• Addison disease
• Infection (TB, sepsis)
• Adrenoleukodystrophy

15
Addison disease

• Autoimmune
• Isolated or associated with other autoimmune
  disease
• Presents with tiredness, weight loss, skin
  pigmentation
• Aldestrone cortisol low, high ACTH, high renin
• Low sodium , high potasium
• ACTH stimulation test
• Adrenal antibodies
• Treatment cortisol aldestrone

16
(No Transcript)
17
(No Transcript)
18
Hyperpigmentation
A Color Atlas of Endocrinology p97
19
(No Transcript)
20
Primary Adrenal Insufficiency

• Hyperpigmentation
• Dehydration
• Hypotension
• Hyperkalemia
• Hyponatremia
• Hypoglycemia

21
Addisonian crisis

• Life threatening complication
• Severe vomiting and diarrhoea followed by
  dehydration
• Low blood pressure and shock
• Hypoglycemia
• Loss of consciousness
• Treatment IV fliudsIV hydrocortisone

22
(No Transcript)
23
Congenital Adrenal Hyperplasia

• The first case was described in 1865
• Family of inherited disorders of adrenal
  steroidogenesis
• Each disorder results from a deficiency of one of
  several enzymes necessary for steroid synthesis
• Autosomal Recessive (MF)
• 21-hydroxylase ? is the commonest form

24
Steroid biosynthetic enzymes

• 1) Cholesterol side chain cleavagescc (20,22
  desmolase)
• 2) 3?-Hydoxysteroid dehydrogenase
• 3) 17 ? hydroxylase and 17,20 lyase
• 4) 21?-Hydroxylase
• 5) 11?-Hydroxylase
• 6) Aldosterone synthetase (11?,18 hydroxylase
  18 oxidase

25
(No Transcript)
26
(No Transcript)
27
(No Transcript)
28
Congenital Adrenal Hyperplasia
29
Congenital Adrenal Hyperplasia
30
CAH due to 21-Hydroxylase Deficiency

• 9095 of CAH cases are caused by 21- OHD
• Females affected with severe, classic 21- OHD are
  exposed to excess androgens prenatally and are
  born with virilized external genitalia

31
Presentations of 21 HCAH

• Ambiguous genitalia in girls
• Dehydration
• Shock
• Salt-loss presentations with electrolytes
  imbalance
• Hyponatremia
• Hyperkalaemia
• Hypoglycemia
• Hyperpigementations

32
AMBIGUOUS GENETALIA
33

34
(No Transcript)
35
(No Transcript)
36
BOYS WITH CAH

• Are unrecognized at birth because their genitalia
  are normal.
• Present early with salt wasting
• crisis resulting in dehydration, hypotension,
  hyponatremia and hyperkalemia
• Or present later in childhood with early pubic
  hair, precocious puberty and accelerated growth

37
Nonclassical CAH

• Residual enzyme activity.
• Non salt losing CAH
• present late in childhood with precocious pubic
  hair and/or clitoromegaly and accelerated growth.
• Present in adolescence or adulthood with varying
  virilizing symptoms ranging from oligomenorrhea
  to hirsutism and infertility.

38
Non classicalCAH
39
Diagnosis

• Serum electrolytes glucose
• Low Na high K
• Fasting hypoglycemia
• Elevated serum urea due to associated dehydration
• Elevated plasma Renin ACTH levels
• Low Cortisol
• High 17 OHP
• High androgens especially testosterone level
• Low Aldosterone
• Urinary steroid profile
• Chromosomes
• Pelvic US

40
Management

• Hydrocortisone
• Fludrocortisone 0.05 - 0.2 mg/day
• Triple hydrocortisone duiring stress.
• During adrenal crisis intravenous hydrocortisone
  and IV fliud
• Surgey for female external genetalia

41
Newborn screening for CAH

• Neonatal screening by filter paper on 3rd day of
  life
• 17 Hydroxyprogestrone blood level (17 OHP)

42
Cushings syndrome

• Cushings Syndrome
• Results from increased adrenocortical secretion
  of cortisol
• Causes include
• ACTH-secreting tumor of the pituitary (Cushings
  disease)
• excess secretion of cortisol by a neoplasm within
  the adrenal cortex
• ectopic secretion of ACTH by a malignant growth
  outside the adrenal gland
• excessive or prolonged administration of steroids

43
Cushings syndrome

• Cushings Syndrome
• Characterized by
• truncal obesity
• moon face
• buffalo hump
• acne, hirsutism
• abdominal striae
• hypertension
• psychiatric disturbances
• osteoporosis
• Amenorrhea
• Diabetes

44
Frequency of signs and symptoms in Cushings
syndrome
45
(No Transcript)
46
(No Transcript)
47
(No Transcript)
48
Post treatment
Pre treatment
49
(No Transcript)
50
Treatment of Cushings syndrome

• Treatment of underline cause
• Surgery for neoplasia