Sei sulla pagina 1di 80

Department of pediatrics and child

health, CMHS Gondar


Dr Yohanes Hailu (pediatrician)

1 09/24/20
Endocrine Glands
THE ENDOCRINE SYSTEM
“Endocrine” denotes internal secretion of biologically
active substances.
The endocrine and nervous systems are the two major
controllers of the flow of information between
different cells and tissues.
The NS regulates the endocrine system and the
endocrine system modulates the activity of the NS.
Hormones are secreted substances affecting distant or
neighboring target cells or , the cells that produce
them.
Cont'd

• The pituitary gland is the central regulator of


growth, reproduction and homeostasis via
hormone-signaling pathways .
• Disoreders of the endocrine system can be:
• excess production
• defficiency
• hormonal resistance

09/24/20
Cont….
• The mature pituitary gland consists of the
adenohypophysis (anterior and intermediate
lobes) and neurohypophysis (posterior lobe).
• The adenohypophysis consists of five different cell
types, each defined by the hormone it produces:
• Somatotropes [growth hormone (GH)
• Thyrotropes [thyrotropin or (TSH)
• Corticotropes [corticotropin or adrenocorticotropic
hormone (ACTH)
• Gonadotropes FSH and luteinizing hormone (LH)] and
• Lactotropes (prolactin).
Cont….
• The intermediate lobe produces pro-
opiomelanocortin (POMC), which is a precursor to
MSH and endorphins.
• The neurohypophysis consists of axons of neurons,
the cell bodies of which reside in the
hypothalamus, and secretes arginine vasopressin
(AVP, also called ADH hormone) and oxytocin.
• The hypothalamus lies superior to the pituitary
gland and the link between the two organs is
critical for normal pituitary function.
Cont….
• Various stimulatory and inhibitory releasing
hormones are secreted from hypothalamic nuclei
and regulate the hypothalamo-pituitary-target
gland axis.
• These include:
• GH-releasing hormone (GHRH), which stimulates the
release of GH
• Corticotropin-releasing hormone (CRH), which
stimulates the releases of ACTH.
• Thyrotropin releasing hormone (TRH) that stimulates
the release of TSH and prolactin;
Cont….
• Gonadotropin releasing hormone (GnRH) ,stimulates
the release of FSH and LH
• Somatostatin, inhibits the release of GH and
• Dopamine, inhibits the release of prolactin.
• Clinical features of hypopituitarism are variable,
both in severity and in the number of hormone
deficiencies.
• Isolated GH deficiency (IGHD) is by far the most
common endocrinopathy.
Anterior
Pituitary

9
Posterior Pituitary

10
Cont….
• Hypothalamic-pituitary control of hormone
secretion is regulated by feedback, so that end-
organ failure (endocrine gland insufficiency)
causing decreased circulating endocrine gland
hormones results in increased secretion of their
respective hypothalamic releasing and pituitary
hormones.
Negative Feedback
Inhibition

Hormone Homeostasis-
Maintenance of hormone levels within
a particular physiological range

12
Feedback Control of Hormone Secretion
Parathyroid Gland Overview
 4 small glands located on the dorsal side of the
thyroid gland

Essential for life

Produces parathyroid hormone

Responsible for monitoring plasma Ca2+

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Anatomy & Location of Parathyroid Gland
Regulation of PTH
PTH is released by chief cells in the parathyroid
gland.

Governed by Plasma Ca2+ Levels

Chief cells contain receptors for Ca2+

A decrease in plasma Ca2+ levels mediates the


release of PTH

Conversely, hypercalcemia inhibits PTH release


Calcitonin
A thyroid hormone

Produced by C-
cells

Physiological
effects are opposite to
those of PTH

Rapid acting, short


term regulator of
plasma Ca levels
Calcitonin Lowers Blood Ca

Stimulates osteoblasts, inhibits osteoclasts

Causes removal of Ca from plasma to calcify new bone

Lowers plasma Ca (opposes PTH)

Minor role in adult due to PTH feedback

Major role in children due to the rapid nature of bone


remodeling and its effect on osteoclastic activity
Hypoparathyroidism
• Etiology
• Serum calcium concentration is tightly regulated
by the coordinated actions of the parathyroid
glands, kidney, liver, and small intestine.
• Low serum calcium concentrations stimulate
parathyroid hormone (PTH) release.
• 1,25-dihydroxy vitamin D (calcitriol) is another
essential cofactor in calcium homeostasis.
• Effect of calcitriol:
• Promote absorption of calcium from the intestines.
• Facilitates calcium and phosphorus mobilization from bones.
Cont…..
• Biologic Effects of PTH
• Regulates serum calcium levels by acting on three
principal target organs:
• Bone
• Intestinal mucosa
• Increases calcium absorption indirectly through calcitriol.
• Kidney
• Increases the reabsorption of calcium, predominantly in the
distal convoluted tubule.
• Inhibits the reabsorption of phosphate in the renal proximal
tubule.
• Impairs bicarbonate reabsorption.
Cont…
• When serum levels of calcium fall, the signal is
transduced through the calcium-sensing receptor,
and secretion of PTH increases.
• PTH stimulates activity of 1α-hydroxylase in the
kidney, enhancing production of 1,25-
dihydroxycholecalciferol.
Causes of hypoparathyroidism
• Aplasia/hypoplasia of parathyroid gland.
• Often associated with DiGeorge/velocardiofacial syndrome
• Autosomal recessive hypoparathyroidism with
dysmorphic feature
• Suppression of neonatal PTH secretion because of
maternal hyperthyroidism.
• Autosomal dominant hypoparathyroidism.
• Patients have an activating (gain-of-function) mutation
of the Ca2+-sensing receptor, forcing the receptor to
an “on” state with subsequent depression of PTH
secretion even during hypocalcemia.
Cont…
• Surgical hypoparathyroidism.
• Autoimmune hypoparathyroidism.
• Idiopathic hypoparathyroidism.
• X linked recessive hypoparathyroidism.
Clinical Manifestations
• Muscular pain and cramps progressing to
numbness, stiffness, and tingling of the hands and
feet.
• There may be only a positive Chvostek or
Trousseau sign or laryngeal and carpopedal
spasms.
• Convulsions with or without loss of consciousness
can occur at intervals of days, weeks, or months.
• Headache, vomiting, increased intracranial
pressure, and papilledema may be associated with
convulsions and might suggest a brain tumor.
Cont….
• Delayed and irregular teeth eruption.
• Enamel formation is irregular, and the teeth may
be unusually soft.
• The skin may be dry and scaly, and the nails might
have horizontal lines.
• Cataracts
• Permanent physical and mental deterioration
occurs if not treated early.
Laboratory Findings
• Low serum calcium level (5-7 mg/dL), and
• Elevated phosphorus level (7-12 mg/dL).
• Normal or low level of alkaline phosphatase
• Low level of 1,25(OH)2D3.
• Low levels of PTH.
• Radiographs or CT scans of the skull can reveal
calcifications in the basal ganglia.
• Prolonged QT interval.
Treatment
• Neonatal tetany
• Calcium gluconate (10% solution) 5-10 mL or 1-3 mg/kg
(elemental calcium 9.3 mg/mL) IV at the rate of 0.5-1.0
mL/min while the heart rate is monitored and a total
dose not to exceed 20 mg of elemental calcium/kg.
• 1,25-dihydroxycholecalciferol.
• Foods with high phosphorus content such as milk, eggs,
and cheese should be reduced in the diet.
• Out of neonatal age
• Calcium gluconate or calcium chloride; 10 mg/kg IV
infusion.
Cont…
• Maintenance management of hypoparathyroidism
or chronic hypocalcemia
• Calcium supplementation starting at a dose of 50–75
mg of elemental calcium per kg per day tid/qid. The
dose may be changed based on response of serum
level and urinary calcium excretion.
• Vitamin D Supplementation
Thyroid Physiology
• The only known physiologic role of iodine is in the
synthesis of thyroid hormones
• Entry of iodide from the circulation into the
thyroid is carried out by the sodium-iodide
symporter & pendrine.
• Before the iodide reacts with thyroxin it must be
oxidized by thyroidal peroxidase.
• Thyroid peroxidase mediates both the oxidation of
iodide ions and the incorporation of iodine into
tyrosine residues of thyroglobulin.

29 09/24/20
Cont…
• The thyroid cells elaborate a specific thyroprotein,
thyroglobulin,which is a globulin with
approximately 120 tyrosine units .
• Iodination of tyrosine forms monoiodotyrosine and
diiodotyrosine; 2 molecules of diiodotyrosine then
couple to form 1 molecule of T4, or 1 molecule of
diiodotyrosine and 1 of monoiodotyrosine to form
T3.
• T4 and T3 are liberated from thyroglobulin by
activation of proteases and peptidases.
• The metabolic potency of T3 is 3 to 4 times that of T4

30 09/24/20
Cont….
• Only 20% of circulating T3 is secreted by the
thyroid; the remainder is produced by deiodination
of T4 in the liver, kidney, and other peripheral
tissues by type I 5′-deiodinase.
• Thyroid hormones increase oxygen consumption,
stimulate protein synthesis, influence growth and
differentiation, and affect carbohydrate, lipid, and
vitamin metabolism.
• Monocarboxylate transporter 8 is an active,
specific thyroid hormone transporter that
facilitates T4 entry into cells.
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Cont…
• Intracellular T3 binds to thyroid hormone receptors in the
nucleus; resulting in production of an encoded mRNA and
protein synthesis.
• Thyroxine(T4 ) is transported in the cirtculation firmly bound
to:
• Thyroxine-binding globulin (TBG)-70%.
• Thyroxine-binding prealbumin(transthyretin) and
• Albumin or
• Free T4 - 0.03%
• Approximately 50% of circulating T3 is bound to TBG, and
50% is bound to albumin; 0.30% of T3 is unbound, or free, T3.

32 09/24/20
Cont'd
• The iodide transporter in the
thyroid cell. The large solid
circle represents the Na+/I-
symporter actively
transporting I- into the cell;
the large open circle
represents Na+-K+ ATPase
supplying the ion gradient
which drives the reaction. I- is
transported across the apical
membrane by pendrin.
Hormone synthesis takes
place in the colloid at the
colloid-apical membrane,
catalyzed by thyroperoxidase
(TPO).
Thyroid hormone synthesis in a thyroid follicle.
Structure of thyroid hormones and related compounds.
Thyroid hormon disoreders

• Hyperthyroidism
• Hypothyroidism
Hypothyroidism
• It is deficiency of thyroid hormone production.
• Defect of thyroid gland(primary hypothyroidism)
• Reduced thyroid-stimulating hormone (TSH)
stimulation (central or hypopituitary hypothyroidism).
• It can be congenital or acquired.
Congenital Hypothyroidism
• Most cases are not hereditary and result from thyroid
dysgenesis.
• Some are familial caused by one of the inborn errors
of thyroid hormone synthesis and may be associated
with a goiter.

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Epidemiology

• Prevalence is 1/3,000 infants worldwide.


• Twice as many girls as boys are affected.

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Etiology
1.Thyroid Dysgenesis
• It's due to aplasia(~33% ), hypoplasia(66%), or an
ectopic gland.
• Is the most common cause accounting for 80-85%
of cases.
• Etiology
• Unknown but it can be familial or sporadic.
• Monogenic mutation of transcription factors is
important for thyroid morphogenesis and
differentiation (including TTF-1/NKX2.1, TTF-2 [also
termed FOXE1] and PAX8) in ~2% of the cases.

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Cont’t…
• Transcription factor TTF-1/NKX2.1 is expressed in the
thyroid, lung, and CNS and its mutations result in
congenital hypothyroidism, respiratory distress, and
persistent neurologic problems, including chorea and
ataxia, despite early thyroid hormone treatment.
• NKX2.5 is expressed in the thyroid and heart & its
mutation results in congenital hypothyroidism and
cardiac malformations.

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Cont…
• PAX-8 is expressed in the thyroid and kidney& its
mutation results in congenital hypothyroidism and
kidney and ureteral malformations.

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2.Defective Synthesis of Thyroxin
(Dyshormonogenesis)

• Account for 15% of cases.

• Transmission is autosomal recessive.

• A goiter is almost always present.

• Onset of hypothyroidism may be delayed for years


if it's compensated in incomplete type.

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3.Defect of Iodide Transport

• Is rare and involves mutations in the sodium-


iodide symporter.

• Consanguinity is a factor in ~30% of the families.

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4.Thyroid Peroxidase Defects of Organification
and Coupling

• The most common T4 synthetic defects.


• The oxidation of iodine and its incorporation into thyroxin
units on thymoglobulin requires the availability and
proper functioning of:
• H2O2, thyroid peroxidase, and hematin. Mutation or abnormality in
any of these cause congenital hypothyroidism.
• Transport of iodide via the Na+ -Iodide symporter on the
basolateran side and Cl- -iodide transporter protein on the apical
side(pondred syndrome).

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Cont….
5.Defects of Thyroglobulin Synthesis
• Characterized by goiter, elevated TSH, low T4 levels, and absent or
low levels of thyroglobulin (TG).

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Cont…
6.Defects in Deiodination
• Monoiodotyrosine and diiodotyrosine released from
thyroglobulin are deiodinated within the thyroid or in
peripheral tissues by a deiodinase.
• Deiodinase deficiency causes severe iodine loss via
kidney/urine of nondeiodinated tyrosines, leading to
hormonal deficiency and goiter. The deiodination defect
may be limited to thyroid tissue only or to peripheral tissue
only, or it may be universal.

46 09/24/20
Cont’…

7.Defects in Thyroid Hormone Transport


• A mutation in monocarboxylate transporter 8 (MCT8), located on the X
chromosome, appears to impair passage of T3 into neurons; leading to
elevated serum T3 levels, low T4 levels, normal or mildly elevated TSH
levels, and psychomotor retardation.

8.Thyrotropin Receptor-Blocking Antibody(TRBAb)


• Transplacental passage of maternal TRBAb inhibits binding of TSH to its
receptor in the neonate.

47 09/24/20
Cont…
• Technetium pertechnetate and 125 I scans might fail to detect any
thyroid tissue, mimicking thyroid agenesis, but ultrasonography will
show a thyroid gland. After remission, a normal thyroid gland is
demonstrable by scanning following discontinuation of replacement
treatment.

• Remission of the hypothyroidism occurs in about 3-6 mo.

• Correct diagnosis prevents unnecessary protracted treatment, alerts


the clinician to possible recurrences in future pregnancies, and allows
a favorable prognosis.

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9. Radioiodine Administration
• Inadvertent administration of radioiodine during pregnancy for treatment
of Graves disease or cancer of the thyroid.
10.Thyrotropin and Thyrotropin-Releasing Hormone
Deficiency
11.Thyrotropin Hormone Unresponsiveness
• A mutation in the TSH-receptor gene is a relatively uncommon AR disorder.
12.Thyrotropin-Releasing Hormone Receptor
Abnormality
• is rare form

49 09/24/20
13. Thyroid Hormone Unresponsiveness

• AR disorder.
• Eleveted T4,T3 ,free T4, and free T3 often leading to the erroneous
diagnosis of Graves disease, although most affected patients are
clinically euthyroid.
• Because of variation of the responsiveness of tissues, patients can
have subtle clinical features of hypothyroidism, including mild mental
retardation, growth retardation, and delayed skeletal maturation and
features of hyperthyroidism, such as tachycardia and hyperreflexia.
• ADHD has also strong association with it but the reverse is not true.
• TSH levels are diagnostic in that they are not suppressed as in Graves
disease but instead are moderately elevated or normal but
inappropriate for the levels of T4 and T3.

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14. Iodine Exposure
• Congenital hypothyroidism can result from fetal exposure to excessive
iodides.
• Transient causes of hypothyroidism during perinatal period are:
• Iodine antiseptic to prepare the skin for CS or painting of the cervix
before delivery.
• topical iodine-containing antiseptics used in nurseries and by surgeons
in neonates.
• In older children:
• Amiodaron
• Proprietary preparations used to treat asthma.
15. Iodine-Deficiency Endemic Goiter
• Most common cause of congenital hypothyroidism worldwide.

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Clinical Manifestations

• At birth neonates will have 33% of their normal


plasma level of T4 that is attributed to
transplacental passage of T4 but hypothyroid
infants still have a low serum T4 and elevated TSH
level.

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Cont….
• Affected infants have feeding difficulty & poor
appetite,lack of interest, somnolence, choking spells
during nursing, little cry and they are sluggish during
the 1st mo of life.
• apneic episodes, noisy respirations, and nasal
obstruction, due to the large tongue.
• Constipation that does not usually respond to
treatment.
• Large abdomen and an umbilical hernia.
• Hypothermia(<35C0), with cold and mottled skin. .

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Cont…
• Edema of the genitals and extremities.
• Bradycardia, heart murmurs, cardiomegaly, and
asymptomatic pericardial effusion are common.
• Refractory Macrocytic anemia.
• Prolongation of physiologic jaundice due to
delayed maturation of glucuronide conjugation.
• Slightly increased HC because of myxedema of the
brain.
• ~10% of them do have associated congenital
anomalies like cardiac, CNS, eye and hearing loss.
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Cont…
If not treated early subsequently they will develop:
• Retardation of physical and mental development, and
by 3-6 mo of age the clinical picture is fully developed.
• Stunting, short extremities and normal or increased
head size.
• Widely opened anterior and posterior fontanel.
• Depressed and wide nasal bridge.
• Eyes appear far apart
• Swollen eyelids with narrow palpebral fissure.
• Open mouth with thick and broad protruding tongue.
• Delayed dentition.
• Short and thick neck with deposits of fat above the
clavicles and between the neck and shoulders.

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Cont…
• Broad hand with short fingers.
• Dry and scaly skin with little perspiration.
• Myxedema
• Carotenemia causes a yellow discoloration of the skin, but
the sclera remain white.
• Thickened scalp with coarse, brittle and scanty hair.
• The hairline reaches far down on the forehead, which
usually appears wrinkled, especially when the infant cries.
• Developmental delay and appear lethargic.

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Cont…
• The voice is hoarse, and they do not learn to talk.
• Sexual maturation may be delayed or might not take
place at all.
• The muscles are usually hypotonic, but in rare
instances generalized muscular pseudo hypertrophy
occurs (Kocher-Debré-Sémélaigne syndrome)with
athletic appearance of calf muscles.

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Laboratory Findings
• Newborn screening with serum TSH or T4 between 2
and 5 days of life.
• Primary hypothyroidism -elevated TSH.
• Low serum levels of thyroglobulin
• Thyroid agenesis
• Defects of thyroglobulin synthesis or secretion
• Elevated serum levels of thyroglobulin
• Ectopic glands
• Inborn errors of thyroxin synthesis.

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Cont….
• X-ray of knee and foot for assessment of
retardation of bone maturation.
• Deformity (“beaking”) of the 12th thoracic or 1st
or 2nd lumbar vertebra.
• Skull X-ray:
• Large fontanels and wide sutures; intersutural
(Wormian) bones are common.
• Enlarged and round sella turcica.
• Delayed formation and eruption of teeth.

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Cont…
• Ultrasonographic examination of the thyroid
• 123I-sodium iodide or 99mTc-sodium pertechnetate
Scintigraphy.
• ECG
• Low-voltage P and T waves
• Diminished amplitude of QRS complexes.
• Echocardiography can confirm a pericardial
effusion.
• Proton magnetic resonance spectroscopy shows
high levels of choline-containing compounds,
which can reflect blocks in myelin maturation.
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Treatment
• Neonates:
• Levothyroxine 12 to 15 μg/kg/day (Max. 37.5-50 mcg/day).
N.B. Newborns with more severe hypothyroidism(serum T4 <5 μg/dL) should be started
at higher end of the dosage range.

• Levels of serum T4 or free T4 and TSH should be monitored


ever month in the first 6 mo of life, and then every 2-3 mo
between 6 mo and 2 yr and maintained in the normal range
for age.
• Children with hypothyroidism require Levothyroxine
4μg/kg/24 hr.
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Cont….
• Confirmation of the diagnosis may be necessary for some
infants to rule out the possibility of transient
hypothyroidism by discontinuing the therapy at 3 yr of age
for 3-4 wk which results in a marked increase in TSH levels
in children with permanent hypothyroidism. This is
unnecessary in infants with proven thyroid ectopia or in
those who manifest elevated levels of TSH after 6-12 mo of
therapy because of poor compliance or an inadequate
dose of T4.

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Prognosis

• Early diagnosis and adequate treatment from the


first weeks of life result in normal linear growth
and intelligence comparable with that of
unaffected siblings.
• Most severely affected infants have reduced (5-10
points) IQs and other neuropsychological
sequelae, such as in coordination, hypotonia or
hypertonia,& short attention span.
• Speech problems even with early diagnosis and
adequate treatment.
• Problems with vocabulary and reading
comprehension, arithmetic, and memory.
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Con’t…
• Neurosensory hearing deficit occurs in ~20% of
children.

• When onset of hypothyroidism occurs after 2 yr of


age, the outlook for normal development is much
better even if diagnosis and treatment have been
delayed.

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Acquired Hypothyroidism
Epidemiology
• ~0.3% (1/333) in school age children.
• Subclinical hypothyroidism (TSH >4.5 mU/L, normal
T4 or free T4) is more common,~2% of adolescents.
Etiology
• The most common cause is chronic lymphocytic
thyroiditis.
• Autoimmune thyroid disease
• ~30% of Down patients have anti-thyroid antibodies and
subclinical or overt hypothyroidism occurs in ~15-20%.
• ~40% Turner have anti-thyroid antibodies and subclinical
or overt hypothyroidism occurs in ~15-30%.
• ~20% children with type 1 DM, develop anti-thyroid
antibodies and 5% become hypothyroid.

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Cont….
• Etiology and classification of acquired hypothyroidism
• Autoimmune
• Hashimoto thyroiditis
• Polyglandular autoimmune syndrome, types I and II
• Iatrogenic
• Propylthiouracil, methimazole, iodides, lithium, amiodarone
• Irradiation
• Radioiodine
• Thyroidectomy
• Systemic disease
• Cystinosis
• Langerhans cell histiocytosis

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Cont’….
• Hemangiomas (large) of the liver (type 3 iodothyronine
deiodinase)
• Hypothalamic-pituitary disease
• Protracted ingestion of medications containing iodides;
• Expectorants ,usually accompanied by goiter.
• Amiodarone causes hypothyroidism in about 20% of treated
children. It affects thyroid function directly by its high iodine
content as well as by inhibition of 5′-deiodinase, which converts
T4 to T3.
• Additional drugs that can produce hypothyroidism include
lithium carbonate, interferon alpha, stavudine,
thalidomide, valproate (subclinical), and
aminoglutethimide.

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Clinical Manifestations

• Deceleration of growth is the first sign.

• Weight gain due to fluid retention (myxedema).

• Myxedematous skin changes, constipation, cold


intolerance, decreased energy, and an increased need
for sleep develop insidiously.
• Schoolwork and grades usually do not suffer, even in
severely hypothyroid children.
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Cont….
• Hyponatremia, macrocytic anemia, hypercholesterolemia,
and elevated CPK.
• Bradycardia, muscle weakness or cramps, nerve
entrapment, and ataxia.

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Cont…
• Delayed osseous maturation.
• Menometrorhhagia
• Delayed puberty.
• Younger children might present with galactorrhea or
pseudoprecocious puberty.

• Headache and visiual problem; they usually have


hyperplasic enlargement of the pituitary gland, as a result
of thyrotroph hyperplasia and may be mistaken for a
pituitary tumor.

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Diagnostic Studies
• Serum free T4 and TSH.
• Measurement of antithyroglobulin and
antiperoxidase antibodies.
• Ultrasound examination is the most accurate
method to follow nodule size and solid vs. cystic
nature.
• Bone age x-ray at diagnosis.

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Treatment
• Levothyroxine:
• 1-3 yr- 4-6 μg/kg/day
• 3-10 yr- 3-5 μg/kg/day; and
• 10-16 yr- 2-4 μg/kg/day.
• Treatment should be monitored by measuring
serum free T4 and TSH every 4-6 mo as well as 6
wk after any change in dosage.

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Endemic Goiter and Cretinism
• Etiology
• A moderate deficiency of iodine is overcomed by
increased efficiency in the synthesis of thyroid
hormone by compensatory hypertrophy and
hyperplasia (goiter).
• One third of school-age children are thought to
have in adequate iodine intake.

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Cont….
• The recommended daily allowance of iodine is:
• Younger than 2 yr: ≥100 μg/day
• School-age children: 100-299 μg/day
• Pregnant women: ≥150 μg/day
• Lactating women: ≥100 μg/day

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CLINICAL MANIFESTATIONS
• Goiter.
• In mild iodine deficiency, thyroid becomes
enlarged when there is increased demand for the
hormone during periods of rapid growth, as in
adolescence and during pregnancy.

75 09/24/20
cont…
• Laboratory:
o Low serum T4 level but clinical hypothyroidism is rare.
o Normal or moderately increased serum TSH.
o Elevated serum T3 level.
• Endemic cretinism is the most serious
consequence of iodine deficiency.
• Endemic cretinism has 2 different but overlapping
syndromes:
o Neurologic type and
o Myxedematous type.

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Cont…
• Neurologic type is characterized by:
o Intellectual disability
o Deaf-mutism
o Disturbances in standing and gait
o Pyramidal signs such as
 Clonus of the foot
 Babinski sign, and
 Patellar hyperreflexia.
o Affected persons are goitrous but euthyroid, have
normal pubertal development and adult stature, and
have little or no impaired thyroid function.

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Cont…
• Myxedematous syndrome is characterized by:
o Intellectual challenge and deaf and have neurologic
symptoms.
o Delayed growth and sexual development, myxedema,
and absence of goiter.
o Trouble feeding, choking on their food, big tongue, dry
brittle hair, short thick neck, hoarse voice
o Serum T4 levels are low and TSH levels are markedly
elevated.
o Delayed skeletal maturation may extend into the 3rd
decade or later.
o Ultrasonographic examination shows thyroid atrophy.

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Pathogenesis
• The pathogenesis of the neurologic syndrome is:
o Iodine deficiency and hypothyroxinemia during
pregnancy, leading to fetal and postnatal
hypothyroidism or
o Direct effect of elemental iodine deficiency in the fetus
or
o Caused by combined fetal and maternal
hypothyroxinemia.
• The pathogenesis of the myxedematous syndrome
is not yet settled.

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Treatment
• Single IM injection of iodinated poppy seed oil.
o For women prevents iodine deficiency during future
pregnancies for approximately 5 yr.
o For children younger than 4 yr of age with
myxedematous cretinism results in a euthyroid state in
5 mo.
o Older children respond poorly and adults not at all to
iodized oil injections and require treatment with T4.
• Universal salt iodization is one of the WHO
strategy to decrease iodine deficiency.

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