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Adrenal glands disorders in children.pptx
1. Adrenal glands disorders in children
MD, PhD Ievgeniia Burlaka
Bogomolets National Medical University
Department of Pediatrics no.4
2. The Adrenal gland
ƒ The adrenal gland lies just above the kidneys
ƒ Divided into two main sub-organs
ƒ Adrenal cortex
ƒ Secretes the steroid hormones
ƒ Glucocorticoid
ƒ Mineralocorticoid
ƒ Androgens
ƒ Adrenal medulla
ƒ Secretes Catecholamines
ƒ Adrenaline (epinephrine)
ƒ Noradrenaline (norepinephrine)
3.
4. Adrenal glands functions
•The zona glomerulosa (ZG) is the most superficial layer of the adrenal cortex and it produces
the hormone aldosterone as well as some small amounts of progesterone (a sex hormone).
- plays a central role in regulating blood pressure and certain electrolytes (sodium and
potassium).
- aldosterone sends signals to the kidneys, resulting in the kidneys absorbing more sodium
into the bloodstream and releasing potassium into the urine.
- thus, aldosterone helps to regulate the blood pH by controlling the levels of electrolytes in the
blood.
•The zona fasciculata (ZF) is the middle zone of the adrenal cortex, and it primarily
produces cortisol.
- it helps control the body’s use of fats, proteins and carbohydrates; suppresses inflammation;
regulates blood pressure; increases blood sugar; and can also decrease bone formation.
- this hormone also controls the sleep/wake cycle. It is released during times of stress to help
your body get an energy boost and better handle an emergency situation.
•The zona reticularis (ZR) is the inner most zone of the adrenal cortex and it is adjacent to the
adrenal medulla. Functions of the zona retularis are to store cholesterol for steroidogenesis (the
making of steroid hormones) and the secretion of sex hormones such as estrogen, and
testosterone (in small amounts).
- These hormones produced by the zona reticularis are precursor hormones that are converted
in the ovaries into female hormones (estrogens) and in the testes into male hormones
(androgens).
12. Congenital Adrenal Hyperplasia
(Adrenogenital syndrome)
• 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
• The adrenal cortex synthesizes
Mineralocorticoid, glucocorticoid and sex
steroids
13. Types of CAH
•Classic CAH. This rarer, more-severe form is
usually detected at birth or in early infancy.
•Nonclassic CAH. This form is milder and
more common. It may not be identified until
childhood or early adulthood.
14. CAH due to 21-Hydroxylase Deficiency
ƒ 90-95% of CAH cases are caused by 21- OHD
ƒ Females affected with severe, classic 21- OHD
are exposed to excess androgens prenatally and
are born with virilized external genitalia
ƒ First described in the mid -19th century
ƒ A more thorough understanding of this disease
was not forthcoming until the mid -20th century,
when the recessive nature of the genetic trait
and identification of hormonal abnormalities
were recognised
15. Classic CAH, Signs
•Insufficient cortisol. Classic CAH causes the body to produce an insufficient
amount of cortisol. This can cause problems maintaining normal blood pressure,
blood sugar and energy levels, and cause problems during physical stress such as
illness.
•Adrenal crisis. People with classic CAH can be seriously affected by a lack of
cortisol, aldosterone or both. This is known as an adrenal crisis, and it can be life-
threatening.
•Atypical genitalia. Female infants may have atypical genitalia appearance, such
as an enlarged clitoris that may resemble a penis, and a partially closed labia
resembling a scrotum. The urinary opening (urethra) and the vagina may be only
one opening instead of two separate openings. The uterus, fallopian tubes and
ovaries usually develop typically.
Male infants usually have typical-appearing genitals.
•Excess androgen. An excess of the male sex hormone androgen can result in
short height and early puberty for both males and females. Pubic hair and other
signs of puberty may appear at a very early age. Severe acne also may occur.
Excess androgen hormones in females may result in facial hair, excessive body hair
and a deepening voice.
•Altered growth. Rapid growth may occur during childhood with an advanced bone
age. Final height may be shorter than average.
•Fertility issues. These can include irregular menstrual periods, or not having any
at all, and having infertility problems in females. Fertility issues can sometimes occur
in males.
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19. Nonclassic CAH. Signs
Often there are no symptoms of nonclassic CAH when a baby is born.
Some people with nonclassic CAH never have symptoms.
The condition is not identified on routine infant blood screening and
usually becomes evident in late childhood or early adulthood.
Cortisol may be the only hormone that's deficient.
Females who have nonclassic CAH may have typical-appearing genitals at
birth. Later in life, they may experience:
•Irregular menstrual periods, or not having any at all, and problems getting
pregnant
•Masculine characteristics such as facial hair, excessive body hair and a
deepening voice
In both females and males, signs of nonclassic CAH may also include:
•Early appearance of pubic hair and other signs of early puberty
•Severe acne
•Rapid growth during childhood with an advanced bone age and shorter than
expected final height
21. Adrenal hypoplasia congenital (AHC)
„ Incidence 1:12,500 births
„ It may be sporadic or familial
„ Familial (A.R or X-linked)
„ May be associated with other congenital
anomalies (polydactyly, renal and cardiac)
„ Gonadotrophin deficiency and hearing
impairment may develop with time
„ Can be linked to contiguous gene located
XP21.3 including DMD, glycerol kinase ↓
22. Congenital lipoid hyperplasia
„ Reported in 1995 by Lin and co-workers
„ Mutations in the steroidogenic acute
regulatory protein “StAR”
„ “StAR” protein has an essential role in the
mobilization of cholesterol from lipid stores to
cytochrome P450 in the inner mitochondrial
membrane and controls steroid synthesis
„ Rare autosomal recessive disorder
„ Characterized by severe adrenal insufficiency
in the neonatal period
23. Peroxisomal disorders
„ Inherited disorders characterized by
progressive neurological dysfunction
associated with primary adrenal insufficiency
„ Defects in the oxidation of VLCFA
„ Neurological symptoms often precedes
adrenal failure symptoms
„ Adrenal failure onset usually at 4-8 years
25. Autoimmune polyendocrinopathy
„ Type I (APECED) occurs in children
„ Adrenal insufficiency, hypoparathyroidism,
pernicious anaemia, chronic candidiasis,
chronic active hepatitis, and hair loss
„ Type II “Schmidt's syndrome” usually affects
young adults
„ Features of type II include hypothyroidism,
adrenal insufficiency and diabetes mellitus
„ About 10% of patients with type II have
vitiligo
26. Addison’s disease
„ Described by Dr Thomas Addison in 1849
„ Rare endocrine disorder
„ Incidence 1 in 100,000 Autoimmune
destruction of adrenal gland
„ TB was the commonest pathology in 70-90%
„ Occurs in all age groups
„ Males and females are equally affected.
Adrenal insufficiency occurs when 90 % of the adrenal
cortex has been destroyed
„ Often positive adrenal antibodies
27. Clinical Features
„ Fasting hypoglycemia
„ Nausea, vomiting and diarrhea occur in
50% of cases
„ Weight loss
„ Fatigue and muscle weakness
„ Hyperpigmentations
„ Hypotension → Shock → Death
28.
29. Clinical features
Addisonian crisis
„ Sudden penetrating pain in the lower back,
abdomen, or legs
„ Severe vomiting and diarrhoea followed by
dehydration
„ Low blood pressure and shock
„ Hypoglycemia
„ Loss of consciousness
„ Fatal, if left untreated
30. Biochemical features
„ Low Na and high K
„ Hyponatremia (due to free water
retention).
Elevated serum urea due to
associated dehydration
„ Fasting hypoglycemia
„ Normochromic anemia and eosinophilia
„ Elevated plasma Renin and ACTH
levels
„
31. Diagnosis
„ A review of a patient's medical
History, thorough clinical examination (B.P)
„ Serum electrolytes and BSL
„ Cortisol, ACTH, Renin, Aldosterone, 17-
hydroxyprogestrone
„ X-ray exam of the abdomen for calcification
„ A tuberculin skin test
32.
33. Management
• Hydrocortisone 10-20 mg/m2/day divided into
three doses
• In infancy and early childhood, sodium
replacement is required
• Fludrocortisone 0.05 - 0.2 mg/day
• Monitor growth, signs of androgen excess,
pubertal development and blood pressure
• Biochemical tests can show under treatment
but cannot indicate optimal suppression as
oppose to over treatment
35. Adrenal Cortical Hyperfunction
ƒ Hypersecretion of one or more adrenocortical
hormones produces distinct clinical syndromes
ƒ Excessive production of androgens results in adrenal
virilism
ƒ Hypersecretion of glucocorticoid produces Cushing's
syndrome
ƒ Excess aldosterone produces hyperaldosteronism
ƒ Adrenal Hyperfunction may be:
ƒ compensatory, as in congenital adrenal hyperplasia
ƒ acquired hyperplasia, adenomas, or adenocarcinomas.
36. Cushing’s syndrome
ƒ First described by Cushing in 1932
ƒ A constellation of clinical abnormalities due to chronic
exposure to excesses of cortisol
Aetiology
ƒ ACTH-dependent
ƒ ACTH - independent
ƒ production of cortisol by an adrenocortical adenoma
or carcinoma
ƒ Therapeutic administration of supraphysiologic
doses of cortisol or related synthetic analogues
suppresses adrenocortical function and mimics
ACTH-independent hyperfunction.
38. ACTH dependent
ƒ Hyperfunction of the adrenal cortex resulting
from pituitary ACTH Cushing's disease
ƒ Hypersecretion of ACTH by the pituitary gland
ƒ Patients with Cushing's disease may have a
basophilic or a chromophobe adenoma of the
pituitary gland
ƒ Secretion of ACTH by a non pituitary tumour
ƒ small cell carcinoma of the lung (ectopic ACTH
syndrome)
ƒ administration of exogenous ACTH
39. Clinical manifestations
ƒ rounded "moon" face with a plethoric appearance
ƒ truncal obesity with prominent supraclavicular and
dorsal cervical fat pads "buffalo hump“
ƒ distal extremities and fingers are slender
ƒ Muscle wasting and weakness
ƒ The skin is thin and atrophic, with poor wound healing
and easy bruising
ƒ Purple striae may appear on the abdomen
ƒ Hypertension
ƒ Renal calculi
ƒ Osteoporosis
40. Clinical manifestations
ƒ Glucose intolerance
ƒ Reduced resistance to infection
ƒ Cessation of linear growth
ƒ Females usually have menstrual irregularities
ƒ In adrenal tumours increased production of
androgens in addition to cortisol lead to:
ƒ Hypertrichosis (hirsutism)
ƒ Temporal balding
ƒ Other signs of virilism in the female
43. Conn's Syndrome
ƒ Primary aldosteronism
ƒ Adenoma, usually unilateral, of the glomerulosa
cells of the adrenal cortex
ƒ rarely, adrenal carcinoma
ƒ Hyperplasia
ƒ The clinical picture may mimic CAH from of 11
β-hydroxylase deficiency
ƒ In children, Bartter's syndrome are
distinguished from Conn's syndrome by the
absence of hypertension in the presence of
hypokalemia and hyperaldosteronism
44. Symptoms and Signs
ƒ Hypersecretion of aldosterone may result in:
ƒ Hypernatremia
ƒ Hyperchlorhydria
ƒ Hypervolemia
ƒ Hypokalemic alkalosis manifested by:
ƒ episodic weakness
ƒ Paresthesias
ƒ transient paralysis
ƒ tetany
ƒ Diastolic hypertension
ƒ Hypokalemic nephropathy with polyuria and
polydipsia
45. Secondary Aldosteronism
ƒ Increased production of aldosterone by the adrenal
cortex caused by stimuli originating outside the
adrenal
ƒ Caused by reduced blood flow in the affected kidney.
ƒ Hypovolemia, which is common in oedematous
disorders, particularly during diuretic therapy,
stimulates the renin-angiotensin mechanism with
hypersecretion of aldosterone.
ƒ cardiac failure
ƒ cirrhosis with ascites
ƒ nephrotic syndrome
ƒ Bartter’s syndrome
ƒ accelerated phase of hypertension is due to renin
hypersecretion secondary to renal vasoconstriction
46. Aldosterone resistance
Pseudohypoaldosteronism
„ First described in 1958 by Cheek and Perry
„ Autosomal recessive and dominant forms
„ Unresponsiveness of the kidney to
aldosterone
„ Salt losing symptoms with poor response to
Fludrocortisone but adequate response to
NaCl
„ Improvement wit age (by 1-2 years of age)
