Congenital Adrenal Congenital Adrenal Hyperplasia (CAH)Hyperplasia (CAH)By:By:Anna HeidemanAnna Heideman&&Angela MullinsAngela Mullins

Congenital Adrenal Congenital Adrenal HyperplasiaHyperplasia

CAH refers to a CAH refers to a group of disorders group of disorders characterized by characterized by genital genital abornomalities due abornomalities due to deficiencies of the to deficiencies of the adrenal glandadrenal gland

Adrenal GlandsAdrenal Glands

The adrenal glands are responsible for The adrenal glands are responsible for producing several types of hormones including:producing several types of hormones including:

hydrocortisone hormone - this hormone, also known as hydrocortisone hormone - this hormone, also known as cortisol, controls the body's use of fats, proteins, and cortisol, controls the body's use of fats, proteins, and carbohydrates.carbohydrates.

corticosterone - this hormone, together with hydrocortisone corticosterone - this hormone, together with hydrocortisone hormones, suppresses inflammatory reactions in the body hormones, suppresses inflammatory reactions in the body and also affects the immune system. and also affects the immune system.

aldosterone hormone - this hormone inhibits the level of aldosterone hormone - this hormone inhibits the level of sodium excreted into the urine, maintaining blood volume sodium excreted into the urine, maintaining blood volume and blood pressure.and blood pressure.

Adrenal GlandsAdrenal Glands

The adrenal glands also produce The adrenal glands also produce epinephrine (known as adrenaline)epinephrine (known as adrenaline)

This hormone increases the heart rate and force This hormone increases the heart rate and force of heart contractions, facilitates blood flow to the of heart contractions, facilitates blood flow to the muscles and brain, causes relaxation of smooth muscles and brain, causes relaxation of smooth muscles, helps with conversion of glycogen to muscles, helps with conversion of glycogen to glucose in the liver, and other activities.glucose in the liver, and other activities.

SymptomsSymptoms

MaleMale Enlarged penisEnlarged penis Failure to regain birth weightFailure to regain birth weight Weight lossWeight loss DehydrationDehydration VomitingVomiting Precocious pubertyPrecocious puberty Rapid growth during Rapid growth during

childhood, but shorter than childhood, but shorter than average final height.average final height.

FemaleFemale Ambiguous genitaliaAmbiguous genitalia Failure to regain birth weightFailure to regain birth weight Weight lossWeight loss DehydrationDehydration VomitingVomiting Precocious pubertyPrecocious puberty Rapid growth during Rapid growth during

childhood, but shorter than childhood, but shorter than average final height.average final height.

InfertilityInfertility Irregular or absent Irregular or absent

menstruation menstruation Masculine characteristics Masculine characteristics

SymptomsSymptoms

Young woman with excess hair growth

Baby girl with ambiguous genitalia.

CausesCauses

Lack of an enzyme needed by the Lack of an enzyme needed by the adrenal gland to make the hormones adrenal gland to make the hormones cortisol and aldosterone. cortisol and aldosterone.

Without these hormones, the body Without these hormones, the body produces more androgen which is a type produces more androgen which is a type of male sex hormone. of male sex hormone.

This causes male characteristics to This causes male characteristics to appear early or inappropriately.appear early or inappropriately.

Location of Defective Location of Defective GeneGene

CAH is caused by CAH is caused by mutations of the mutations of the CYP11B1 gene.CYP11B1 gene.

The CYP11B1 gene is The CYP11B1 gene is found on chromosomes found on chromosomes 13 and 1813 and 18

DiagnosisDiagnosis

To diagnose Congenital Adrenal Hyperplasia, To diagnose Congenital Adrenal Hyperplasia, doctors look for:doctors look for: Abnormal salt levels in the blood and urine Abnormal salt levels in the blood and urine High levels of 17-OH progesterone High levels of 17-OH progesterone High levels of serum DHEA sulfate High levels of serum DHEA sulfate High levels of urinary 17-ketosteroids High levels of urinary 17-ketosteroids Low levels of aldosterone and cortisol Low levels of aldosterone and cortisol Normal or low urinary 17-hydroxycorticosteroids Normal or low urinary 17-hydroxycorticosteroids older bones than normal for the person's ageolder bones than normal for the person's age

TreatmentTreatment

To treat CAH, children are usually To treat CAH, children are usually referred to a pediatric endocrinologist.referred to a pediatric endocrinologist.

Oral drugs are prescribed to boost the Oral drugs are prescribed to boost the hormone levelshormone levels Hydrocortisone and Dexamethasone are Hydrocortisone and Dexamethasone are

common meds to replace cortisol common meds to replace cortisol Fludrocortisone might be prescribed to Fludrocortisone might be prescribed to

replace aldosterone. replace aldosterone.

TreatmentTreatment

The medication The medication dosage is increased dosage is increased during periods of during periods of illness and severe illness and severe stress.stress.

Most of the Most of the medications medications prescribed for CAH prescribed for CAH are steroids. are steroids.

Pedigree ChartPedigree Chart CAH is CAH is

autosomal autosomal recessive.recessive.

This pedigree This pedigree chart illustrates chart illustrates a child’s a child’s chances of chances of inheriting the inheriting the condition if both condition if both parents are parents are carriers.carriers.

Pedigree ChartPedigree Chart Simple virilizing 21-hydroxylase Simple virilizing 21-hydroxylase

deficiency CAH is deficiency CAH is shaded with diagonal shaded with diagonal lineslines, and salt-wasting CAH is , and salt-wasting CAH is blackblack

Impact on PatientImpact on Patient

The patient has to take medicine for the The patient has to take medicine for the rest of his/her life. Quitting the medication rest of his/her life. Quitting the medication can result in even bigger problems such can result in even bigger problems such as: infertility, tumors, obesityas: infertility, tumors, obesity

With the right medication (synthetic With the right medication (synthetic corticosterone or cortisol) CAH can be well corticosterone or cortisol) CAH can be well controled.controled.

Impact on FamilyImpact on Family

Parents must ensure their child sees the Parents must ensure their child sees the right doctors and takes the right right doctors and takes the right medication, but these visits can become medication, but these visits can become costly.costly.

Impact on SocietyImpact on Society

The patients with more severe CAH The patients with more severe CAH might not be accepted by society might not be accepted by society because of their ambiguous genitalia.because of their ambiguous genitalia.

BibliographyBibliography http://www.pnas.org/content/90/10/4552.abstracthttp://www.pnas.org/content/90/10/4552.abstract http://content.nejm.org/cgi/content/short/349/8/776http://content.nejm.org/cgi/content/short/349/8/776 http://www.congenitaladrenalhyperplasia.org/http://www.congenitaladrenalhyperplasia.org/ https://www.google.com/health/ref/https://www.google.com/health/ref/

Congenital+adrenal+hyperplasiaCongenital+adrenal+hyperplasia http://jcem.endojournals.org/cgi/content/full/83/6/1940http://jcem.endojournals.org/cgi/content/full/83/6/1940 http://www.newbornscreening.info/Parents/othehttp://www.newbornscreening.info/Parents/othe

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