Endocrine Disorders

Dr. Manal Kloub

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Phenylketonuria
PKU

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What is PKU?
 it is an Autosomal recessive inborn error of metabolism found
on the 12th chromosome
 Causing an inherited metabolic disease that passes through
families
 It is rare condition characterized by the deficiency in the
enzyme (Phenylalanine Hydroxylase).
 Normally: phenylalanine  tyrosine by liver enzyme phenylalanine
hydroxylase (PAH)

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PKU
Genogram

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How PKU is Inherited?
 In order for a child to inherit PKU,
both parents must be PKU carriers.
 Boys and girls are equally at risk of
inheriting this disorder.
 In this condition, an amino acid called
phenylalanine builds up in the
bloodstream, causing brain damage.

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Incidence of PKU
 1 out of 50 people are carriers of this defective gene;
causing incidence of 1 in 10,000 to 1in 15,000 births.
 Mostly those of northern European background.
 Asians, and Africans are less commonly affected.

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Etiology of PKU

 Phenylalanine is one of the essential amino acids found in many

foods.
 The baby is born lacking the ability to break down phenylalanine
into tyrosine.
 It is characterized by higher than normal levels of phenylalanine in
the blood
 The brain suffers and damaged due to a tremendous buildup of
phenylalanine which causes mental retardation
 In which mental retardation can be prevented by a specific diet
low in Phenylalanine and higher in Tyrosine

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Diagnosis of PKU

 Nearly all cases of PKU in

the United States are
found in newborns
screening tests after birth

 A small sample of blood

to test if the trait is
present on the 12th
chromosome.

 A “heel stick” is done and

then collected on special
blotter paper
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Diagnostic findings

 Normal: 120 – 360 umol/L or 1.6mg/dl

 PAH Deficient:
 Mild: 600 – 1200 umol/L
 Classical: > 1200 umol/L

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Physical Findings
 Because Phenylalanine is involved in the body’s
production of melanin which is the pigment for skin and
hair color – children with PKU generally have lighter skin,
hair and eyes (Albinism).

 Defficience inTyrosine, affect the formation of Hormones

like Epinephrine and Thyroxine

• Accumulation of Phynylalanine leads to decreasd

neurotransmitters; Dopamine and Tryptophan which
affect the normal development of the brain and CNS
leading to disturbance in the cortical lamination that
leads to mental retardation

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Symptoms of PKU
The inability to change Phenylalanine Hydroxylase
to Phenylalanine causes all of these symptoms.

 Vomiting
 Skin Rashes
 Hyperactivity
 Small head size
 Mental Retardation
 Behavioral and social problems
 Seizures tremors or jerking movements
 A musty odor in the skin, breath or urine caused
by too much Phenylketonuria

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Treatment of PKU

 A life long restricted diet of a reduced protein

diet is recommended to reduce build up of
phenylalanine
 Association with attention-deficit hyperactivity
disorder (ADHD) most common problem in
those who don’t follow a strict diet
 If diet is properly followed especially in first
few years of life where it is most crucial an
outcome of better physical and mental health
will follow

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Treatment of PKU
 Frequent monitoring of phenylalanine levels
 Once weekly during 1st year
 Twice monthly from 1 – 12 years
 Monthly after 12 years
 Possible supplementation of tyrosine to promote
normal growth and development
 Foods high in phenylalanine, such as breast milk
, meat, chicken, fish, nuts, cheese.
 Kuvan is the first FDA approved drug for treating
PKU.

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Medical Nutrition Therapy
 Initial
 Treatment implemented 7 – 10 days old
 Phenylalanine-free formula
 Infants and Toddlers
 90% protein requirements
 80% energy requirements
 Reliable source of vitamins and minerals
 Supplemented with evaporated milk, regular infant
formula, or breast milk during infancy and early
childhood

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Medical Nutrition Therapy
 Later
 Low-phe content foods introduced at the
appropriate age and used as a supplement to
the formula mixture
 Vegetables
 Fruits
 Breads/cereals
 Fats
 Free foods
 5-6 months: Pureed foods
 7-8 months: Finger foods
 8 – 9 months: Use of cup
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 Daily Tyrosine
Daily Phenylalanine Requirements
Requirement
 0 – 5 months
 60 – 80 mg/kg
 0 – 3 months = 40- 70 mg/kg
 4 - 6 months = 30 - 50 mg/kg  6 – 12 months
 7 – 12 months = 30 - 40 mg/kg
 40 – 60 mg/kg
 1 – 3 years = 20 – 40 mg/kg
 4 – 6 years = 15 – 35 mg/kg  1 – 10 years
 7 – 15 years = 10 – 25 mg/kg
 15 – 18 years = 5 – 15 mg/kg  25 – 85 mg/kg
 Adult = 5 – 10 mg/kg

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Prevention of PKU
 Patients are highly recommend to have strong relationship with

physician

 An Enzyme Assay can determine if parents carry defective gene

 Chorionic villus Sampling - screen unborn baby for possibility of PKU

 It is very important that women with PKU closely follow a strict low-

phenylalanine diet both before becoming pregnant and throughout the

pregnancy, since build-up of this substance will damage the developing

baby even if the child has not inherited the defective gene.

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Nursing considerations

 Although PKU is a life-long disease, people who have

PKU have the same average life expectancy as those
who do not have the disease.

 Genetic counseling is important especially to newly

married and diagnosed couples

 Provide parental and professional support to promote

normal growth and development

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Research findings
 Several studies indicated that the discontinuation
of the restricted diet might lead to deficits in:
 Neuropsychological functions
 Cognitive ability
 Also it showed:
 Severe mental and psychiatric disorders such as
anxiety, depression, phobias, social withdrawal and
tremors
 It is recommended to continue the restricted diet
to life-long, or at least till age 20 – with some
modifications.

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Hypothyroidism
and
Hyperthyroidism

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Congenital Hypothyroidism- CH
 Clinical condition associated with
decreased function of the thyroid gland
and a decrease in the circulating level of
thyroid hormones

 1:3500 to 1:4000 newborns

 One of most common preventable causes
of mental retardation

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Causes of CH
 The most common cause of congenital
hypothyroidism is iodine deficiency.
 Most commonly due to defect of development of
the thyroid gland itself, resulting in an absent
(athyreosis) or underdeveloped (hypoplastic)
gland.
 A hypoplastic gland may develop higher in the neck or
even in the back of the tongue.
 A gland in the wrong place is referred to as ectopic, and
an ectopic gland at the base or back of the tongue is a
lingual thyroid.

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Causes of CH
 Some of these cases of developmentally abnormal glands
result from genetic defects, and some has no identifiable
cause.
 Genetic defects of thyroxine or triiodothyronine synthesis
within a structurally normal gland.

 Among specific defects are:

1. thyrotropin (TSH) resistance
2. organification defect
3. iodine trapping defect

 The defect sometimes might be due to a deficiency of

thyroid stimulating hormone, either isolated or as part of
congenital hypopituitarism.

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Iodine Deficiency Disorders (IDD)
 Endemic goiter
 Endemic cretinism
 Intellectual disability
 Growth retardation
 Neonatal hypothyroidism
 Increased early and late pregnancy loss
 Increased perinatal and infant mortality

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Iodine Deficiency Disorders (IDD)
 Most common preventable cause of mental deficits in
the world
 The WHO estimated that 20 million people in the world
had varying degrees of preventable brain damage due
to effects of iodine deficiency on fetal brain
development
 Population at risk for IDD caused by low levels of iodine
in the soil was estimated to be 1 billion, approximately
20% of whom have goiter
 Estimates of prevalence of neonatal hypothyroidism in
various regions where goiter is endemic range from 1 to
10%, as compared with only 0.025% in iodine-sufficent
regions

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Iodine Deficiency Disorder
 IDD severe to cause goiter in 30% or
more of population
 Correction of iodine deficiency before
pregnancy
 Severe hypothyroidism in infancy termed
cretinism
 Maternal hypothyroidism is a factor
contributing to cretinism

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CH – Signs and Symptoms
 Anemia is due to decreased oxygen carrying
requirement
 Retardation of mental development and growth
manifest in later infancy and largely irreversible
 Feeding problems, failure to thrive, constipation, a
hoarse cry
 Protuberance of abdomen, dry skin, poor growth of hair
and nails, delayed eruption of deciduous teeth,
umbilical hernia
 Delay in holding up the head, sitting, walking and
talking
 Limb disproportionately short in relation to the trunk
 Severe mental deficiency, and low IQ

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CH – Signs and Symptoms
 Delayed closure of fontanelles, head to be large in
relation to the body
 Naso-orbital configuration remains infantile
 Maldevelopment of femoral epiphyses  waddling gait
 The teeth are malformed and susceptible to caries
 A broad, flat nose, wide set eyes, periorbital puffiness,
large protruding tongue, sparse hair, rough skin, short
neck, and protuberant abdomen with umbilical hernia
 A small but significant number (3-7%) of infants with
congenital hypothyroidism have other birth defects,
mainly atrial and ventricular septal defects in their heart

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CH Screening
 Highly sensitive immunoassay methods
 Direct measurement of serum thyroxine and
TSH
 Filter paper blood spots
 Gurantee detection and treatment from the first
weeks of life

 Majority of children who were treated early

experienced normal growth and neurologic
development and normal-range IQ values

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Diagnosis of CH
 Diagnosis of primary hypothyroidism is
confirmed by decreased levels of serum
thyroid hormone (total or free T4) and
elevated levels of TSH.

 Thyroxin-binding globulin (TBG) levels

can be measured in infants with
suspected TBG deficiency.

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Treatment of CH
 The rule in the treatment of congenital hypothyroidism is
early diagnosis and thyroid hormone replacement.
 Most important treatment variables are the dose and
timing of thyroxine therapy (Levothyroxine).
 Initial thyroxine dose 10-15 ug/kg/day, Can be given as a
single weekly dose
 Endemic cretinism can be prevented by appropriate
iodine supplementation. Iodization of salt is the usual
method.
 Calcium supplements may be useful, Vitamin D therapy is
necessary, and IV calcium gluconate is recommended.

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Nursing care
 Patients who have been treated for
hyperthyroidism need to be followed
closely because they may develop
Hypothyroidism, signs of seizures, or
tetany.
 Follow up care includes:
 Check thyroid function test every 4-6 weeks
 Follow up on medications and dose
adjustment

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Thank you for listening
Have a blessed day 

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