Precosious Puberty Case Study

8/12/2019 Precosious Puberty Case Study

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POSSIBLECAUSE

(1) Precocious Puberty

-Appearance of physical and hormonal signs of pubertal

development at an earlier age than consider normal.

-The early development is triggered by a disease such as a

tumor or injury brain.

(2) Gigantism

- Overproduction of growth hormones and due to an excess

in release of GRF from hypothalamus.- A massive increase in height of the child and make him

extremely large for his age.


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TREATMENT

(1) Surgery for removal of tumors

- Somatostatin analogs: reduce the growth hormone release.

(Such as Octreotide and Lanreotide)

- Dopamine agonists: reduce growth hormones but less effective.

(2) Radiation therapy

Bringing the increased levels of growth hormones down to

normal.

(3) Pegnisomant

Blocks the effect of growth hormone.


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CONSEQUENCESOFIGNORANCE??

McCune Albright Syndrome(1) It is caused by mutations in the GNASI gene.

1. It results in abnormalities in the development of bone and skinpigmentation.

(2) Symptoms:

- Autonomous endocrine hyperfunction such asprecious puberty.

- Polyostotic fibrous dysplasia: is a form of fibrous dysplasia

affecting more than one bone.

- Unilateral caf-au-lait spots: irregular, light brown color spots,especially on the back.


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IFCONDITIONUNTREATED

- Repeated episodes of broken bones.

- Cosmetic problems resulting from facial bone abnormalities.

- Blindness.

- Deafness.

- Premature puberty leading to short stature.

- Osteitisfibrosacystica. (replacement of calcified bone by fibrous

tissue)

- Tumors: malignancies are rare and are usually sarcomas of the

bone. (other malignancies: thyroid, testicular)

- Shortens the lifespan of a person.


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FURTHERINVESTIGATION

Under physical examination: Tall

Well-proportioned

Markedly muscular

Others Mild facial acne

Fine pubic hair

Very large penis (for his age)

Normal Testes size (3ml volume)

Normal neurological signs (IQ &

school performance)


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EARLYDIAGNOSIS

Precious Puberty

Premature appearance (2 characteristic, youngchildren)

Increase growth rate & premature skeletalmauturation

Loss of synchronization (between physical

maturation & emotional)

2-types

- Central (gonadotropin-dependent )

- Peripheral (gonadotropin-independent )


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EARLYDIAGONSIS

Hyperthyroidism

Overproduction of thyroid hormones by overactive thyroid

Increasing metabolism

Several forms of hyperthyroidism :

- Graves disease (diffuse toxic goiter)

- Toxic nodular goiter (multinodular goiter)

- Thyroiditis


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FINALDIAGNOSIS

Precious Puberty

Reason: Match with Jims symptoms

Sex-enhancing action of the disorder

Congenital adrenal hyperplasia

- Genetic disorder

- Deficiency in the hormone control of aldosterone- Overproduction of the hormone androgen

(problems with normal growth & development inchild sexual)


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WHATARETHENORMALHORMONALLEVELSFORCORTISOL,

TESTOSTERONEAND17-OH-PROGESTERONEUNDERBASALAND

STIMULATEDCONDITIONS?

Hormone Normal levels Patient's levels

Cortisol Basal: 3-10ug/dl

Stimulated: 3-21ug/dl

5-10ug/dl

Testosterone 30 172ng/dl

17-OH-progesterone Basal: 100Stimulated: 100

Basal: 12000ng/dlStimulated: 22000ng/dl


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ADRENALHORMONALIMBALANCE

There is a wide variety of possible causes of adrenal hormone imbalance. They can be bothcaused by environmental factors or genetic.

Unhealthy dietary practices

Hormonal/ Antibiotic treatment

Medication

Pain relievers

Family history

Sedentary lifestyle

Enlargement of adrenal gland due to hyperplasia


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ADRENAL HORMONAL IMBALANCE

Cortisol secretion the A.P gland is not subject to feedback control

Secretes abnormally high amount of ACTH

Increase uptake of cholesterol by the adrenal cortex

Enlargement of the adrenal cortex causing hyperplasia

Most common causes a deficiency in cortisol resulting in Addison

disease

The excess cholesterol is metabolized to produce androgens such astestosterone

In the male this condition may results in precocious puberty but itmay cause virilisation of females


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INITIALTHERAPY

Replacement hormone medication

In this case, cortisol is lacking so hydrocortisoneor dexamethesonecan betaken daily to replace cortisol.


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CONGENITALADRENALHYPERPLASIA

1. Deficiency in enzyme 21-hydroxylase

2. This is an enzyme responsible for production of cortisol and aldosterone.

3. CYP21A2 gene is needed for the making of the enzyme

4. Mutation in this gene causes deficiency of the enzyme

5. Lack of enzyme 21-hydroxylase leads to the formation of the substance used to

synthesize cortisol and aldosterone

6. The substances are then converted to androgens, thus leading to an overproduction

of androgens.


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Androgen

excess

SimpleVirilisation Salt-Wasting


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SALT-WASTING

Adrenal gland unable to synthesize adequateamounts of aldosterone

Cortisol deficiency worsens condition

GFR decreases leading to the hyponatremia

Lose large amounts of sodium in urine

Symptoms:

poor appetite, vomiting, lethargy and failure to gainweight


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SIMPLE VIRILISATION

Often results in ambiguous genitalia

Results in masculinization of the reproductivetract

Child appears tall in childhood but have a shorter

stature in adulthood


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SALT

WASTING

VIRILISIN

G


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TREATMENT FOR SALT WASTING

Fludrocortisone, a mineralocorticoid

Replaces the missing aldosterone

Increases the sodium levels and blood volume

Dose of Fludrocortisone :

0.10.2 mg


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TREATMENTFORSALTWASTING

Sodium chloride

supplements of 1-2g daily

An intravenous (IV) bolus

of isotonic sodium

chloride of 20 ml/kg or

450ml/m2

If patient is hypoglycemic,

dextrose must be given

after this dose


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TREATMENTFORVIRILIISING

Fludrocortisone

aid in adrenocortical suppression

Surgery can be recommended to females to

correct the genital abnormalities

However, problems may arise deciding the true

sex of the patient


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OTHERTREATMENTS?

Gene therapy

Experiments done on mice were successful

Problems were faced when trying to suppress

adrenal androgens in humans

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REFERENCES

A.S,Ekman (2009). Gigantism. Available:

http://www.nlm.nih.gov/medlineplus/ency/article/001174.htm

Eugster, E. (2009). Gigantism. Available:

http://www.endotext.org/pediatrics/pediatrics1/pediatrics1b/pediatricsf

rame1b.htm

H.E,Chad (2010). Congenital AdrenalHyperplasia. Available:http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

Paul, G, 1998. Human Endocrinology. 1st ed. United Kingdom: Taylor

and Francis.

S.J,McPhee, G.D, Hammer (2010). Pathophysiology of Disease. 6th

ed. U.S.A: McGraw Hill. p44-444.
http://www.nlm.nih.gov/medlineplus/ency/article/001174.htmhttp://www.endotext.org/pediatrics/pediatrics1/pediatrics1b/pediatricsframe1b.htmhttp://www.endotext.org/pediatrics/pediatrics1/pediatrics1b/pediatricsframe1b.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/000411.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/000411.htmhttp://www.endotext.org/pediatrics/pediatrics1/pediatrics1b/pediatricsframe1b.htmhttp://www.endotext.org/pediatrics/pediatrics1/pediatrics1b/pediatricsframe1b.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/001174.htm

Precosious Puberty Case Study

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