11 endocrine

8/2/2019 11 Endocrine

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ENDOCRINE DISORDERSENDOCRINE DISORDERSM.T. De Guzman, Jr., M.D.M.T. De Guzman, Jr., M.D.



HYPOT

HALAMUS

HYPOT

HALAMUS

(Releasing Hormones)(Releasing Hormones)

PITUITAR Y GLANDPITUITAR Y GLAND

(Stimulating Hormones)(Stimulating Hormones)

TARGET GLANDTARGET GLAND

(Target Hormones)(Target Hormones)IncreasedIncreased

LevelsLevels

DecreasedDecreased

LevelsLevels

NEGATIVE FEEDBACKNEGATIVE FEEDBACK



Hypothalamus:Hypothalamus:

1.1. TRH (Thyrotropin releasing hormone)TRH (Thyrotropin releasing hormone)

2.2. GnRH (Gonadotropin releasing hormone)GnRH (Gonadotropin releasing hormone)

3.3. CRH (Corticotropin releasing hormone)CRH (Corticotropin releasing hormone)

4.4. GHRH (Growth hormone releasing hormone)GHRH (Growth hormone releasing hormone)



Pituitar y Gland:Pituitar y Gland:

Anterior Pituitary Anterior Pituitary

1.1. ACTH (adrenocorticotropic hormone) ACTH (adrenocorticotropic hormone)

2.2. TSH (Thyroid stimulating hormone)TSH (Thyroid stimulating hormone)

3.3. GH (Growth Hormone)GH (Growth Hormone)

4.

4. L

H (Luteinizing hormone)

LH (

Luteinizing hormone)

5.5. FSH (Follicle stimulating hormone)FSH (Follicle stimulating hormone)

6.6. PRL (Prolactin)PRL (Prolactin)



Pituitar y Gland:Pituitar y Gland:

Posterior PituitaryPosterior Pituitary

1.1. OxytocinOxytocin

2.2. ADH (Anti ADH (Anti--diuretic hormone, vasopressin)diuretic hormone, vasopressin)



Disorders of the Pituitar y GlandDisorders of the Pituitar y Gland

Pituitary dwarfism:Pituitary dwarfism: Deficiency of growth hormoneDeficiency of growth hormone

Commonly associated with deficiencies in TSH,Commonly associated with deficiencies in TSH,

ACTH, GnH (Panhypopituitarism if all are deficient) ACTH, GnH (Panhypopituitarism if all are deficient)

May be caused by tumor, trauma or granulomatousMay be caused by tumor, trauma or granulomatous

diseasedisease

Diagnosis: Exercise tolerance testDiagnosis: Exercise tolerance test

Treatment: Treat underlying cause; HGHTreatment: Treat underlying cause; HGH




Pituitary Gigantism:Pituitary Gigantism: Excessive growth hormone secretionExcessive growth hormone secretion

Caused by somatotropin secreting tumorsCaused by somatotropin secreting tumors

Acidophilic adenoma Acidophilic adenoma GigantismGigantism ± ± usually before closure of epiphysesusually before closure of epiphyses

Acromegaly Acromegaly ± ± usually after closure of epiphysesusually after closure of epiphyses

Clinically: Jaw protrusion, separation of teeth,Clinically: Jaw protrusion, separation of teeth,

overgrowth of vertebrae (kyphosis), long limbs,overgrowth of vertebrae (kyphosis), long limbs,fatigue, muscular weakness, arthriticfatigue, muscular weakness, arthritic

Diagnosis: elevated GH, xDiagnosis: elevated GH, x--raysrays

Treatment: Medroxyprogesterone acetate,Treatment: Medroxyprogesterone acetate,

chlorpromazine, somatostatin, Lchlorpromazine, somatostatin, L--dopadopa




Diabetes Insipidus:Diabetes Insipidus: Due to deficiency of ADHDue to deficiency of ADH

Polydipsia, polyuria and episodes of dehydrationPolydipsia, polyuria and episodes of dehydration

Usually idiopathic, or may be secondary to lesionsUsually idiopathic, or may be secondary to lesionsin the area of the posterior pituitaryin the area of the posterior pituitary

Secondary causes include craniopharyngioma,Secondary causes include craniopharyngioma,

trauma, infectiontrauma, infection

Labs: decreased urine sp

.gravity,

Labs: decreased urine sp

.gravity,

Treatment: Pitressin tannate in oil, DesmopressinTreatment: Pitressin tannate in oil, Desmopressin

acetateacetate



Disorders of the Thyr oid GlandDisorders of the Thyr oid Gland

Euthyroid Goiter:Euthyroid Goiter: any enlargement of the thyroid gland = Goiter any enlargement of the thyroid gland = Goiter

Euthyroid = asymptomatic, with normal levels of Euthyroid = asymptomatic, with normal levels of

thyroid hormonesthyroid hormones May be due to: thyroiditis, adenoma, carcinomaMay be due to: thyroiditis, adenoma, carcinoma

etcetc




Hashimoto¶s Thyroiditis (Chronic lymphocyticHashimoto¶s Thyroiditis (Chronic lymphocytic

thyroiditis):thyroiditis): histologic infiltration of thyroid gland withhistologic infiltration of thyroid gland with

lymphocyteslymphocytes autoimmune diseaseautoimmune disease

Initially, hyperthyroid, euthyroid, hypothyroidInitially, hyperthyroid, euthyroid, hypothyroid

Treatment: Thyroxine suppressionTreatment: Thyroxine suppression




Congenital Goiter:Congenital Goiter: May be due to: iodine deficiency, ingestion of antiMay be due to: iodine deficiency, ingestion of anti--

thyroid medications by the pregnant mother thyroid medications by the pregnant mother

Pendred¶s syndrome: congenital goiter withPendred¶s syndrome: congenital goiter withorganification defect and deafnessorganification defect and deafness




Cancer of the Thyroid:Cancer of the Thyroid: relatively rare in childrenrelatively rare in children

Previous irradiation: single most important etiologicPrevious irradiation: single most important etiologic

factor factor Clinically: painless anterior neck mass, hoarsness,Clinically: painless anterior neck mass, hoarsness,

dysphagiadysphagia

Treatment: surgery, radioactive iodineTreatment: surgery, radioactive iodine




Lingual Goiter:Lingual Goiter: Due to failure of the thyroid gland to descend fromDue to failure of the thyroid gland to descend from

embryonic origin at the base of the tongue to its preembryonic origin at the base of the tongue to its pre--

tracheal locationtracheal location Treatment: MedicalTreatment: Medical




Congenital Hypothyroidism:Congenital Hypothyroidism: Deficiency of thyroid hormones (T3, T4)Deficiency of thyroid hormones (T3, T4)

CretinismCretinism

Etiology: errors in thyroxine synthesis, maternalEtiology: errors in thyroxine synthesis, maternal

ingestion of antiingestion of anti--thyroid drugsthyroid drugs

Clinically: prolonged gestation with large birth size,Clinically: prolonged gestation with large birth size,

large anterior fontanel, hypothermia, hypoactivity,large anterior fontanel, hypothermia, hypoactivity,

poor feedingpoor feeding Cretinoid features: wide set eyes, swollen eyelids,Cretinoid features: wide set eyes, swollen eyelids,

narrow palpebral fissures, broad nose withnarrow palpebral fissures, broad nose with

depressed bridge, open mouth with thick broaddepressed bridge, open mouth with thick broad

tonguetongue




Congenital Hypothyroidism:Congenital Hypothyroidism: Labs: low T4, low T3; high TSHLabs: low T4, low T3; high TSH

Treatment: Thyroxine replacementTreatment: Thyroxine replacement




Acquired Hypothyroidism: Acquired Hypothyroidism: Most common causes: Iodine deficiency andMost common causes: Iodine deficiency and

Hashimoto¶s thyroiditisHashimoto¶s thyroiditis

Less severe than congenital hypothyroidismLess severe than congenital hypothyroidism

Treatment: ThyroxineTreatment: Thyroxine




Hyperthyroidism/Grave¶s disease:Hyperthyroidism/Grave¶s disease: Thyrotoxicosis (Toxic goiter)Thyrotoxicosis (Toxic goiter)

Excessive secretion of hormone (T3,T4)Excessive secretion of hormone (T3,T4)

Etiology: autoimmune?Etiology: autoimmune?

rare in childhoodrare in childhood

Clinically: palpitations, dyspnea, tachycardia,Clinically: palpitations, dyspnea, tachycardia,

exophthalmos, increased sweating, heat intolerance,exophthalmos, increased sweating, heat intolerance,

loss of weight despite voracious appetiteloss of weight despite voracious appetite Lab diagnosis: Elevated T3, T4, Decreased TSHLab diagnosis: Elevated T3, T4, Decreased TSH

Treatment: AntiTreatment: Anti--thyroid drugs (PTU, Carbimazole),thyroid drugs (PTU, Carbimazole),

surgery, Radioactive Iodinesurgery, Radioactive Iodine



Disorders of the Parathyr oid GlandDisorders of the Parathyr oid Gland




HyperparathyroidismHyperparathyroidism




Hypoparathyroidism:Hypoparathyroidism: Low levels of parathyroid hormoneLow levels of parathyroid hormone

Etiology: autoEtiology: auto--immune, due to surgeryimmune, due to surgery

Clinically: signs of hypocalcemiaClinically: signs of hypocalcemia

In infants: irritability, tremors, twitching,In infants: irritability, tremors, twitching,

seizures, lethargy, poor suck, vomitingseizures, lethargy, poor suck, vomiting

In older children: muscle twitching, tetanus,In older children: muscle twitching, tetanus,

seizuresseizures

Trousseau¶s sign, Chvostek signTrousseau¶s sign, Chvostek sign

Hyper Hyper--reflexia, hypoplastic teeth, alopeciareflexia, hypoplastic teeth, alopecia




Hypoparathyroidism:Hypoparathyroidism: Lab data: decreased serum calcium, increasedLab data: decreased serum calcium, increased

serum phosphateserum phosphate

Treatment: Intravenous Calcium gluconate, oralTreatment: Intravenous Calcium gluconate, oral

calcium, Vitamin Dcalcium, Vitamin D



The Adrenal GlandThe Adrenal Gland




Aldoster oneAldoster one

Cor tisolCor tisol

Andr ogenAndr ogen

Epinephr ineEpinephr ine



Disorders of the Adrenal GlandDisorders of the Adrenal Gland

Adrenal Insufficiency: Adrenal Insufficiency: Primary: Increased ACTH, Aldosterone deficiencyPrimary: Increased ACTH, Aldosterone deficiency

Causes: congenital aplasia, adrenalCauses: congenital aplasia, adrenal

hemorrhage, steroid tx, CAH, addison¶s dsehemorrhage, steroid tx, CAH, addison¶s dse

Secondary: may be due to hypopituitarism,Secondary: may be due to hypopituitarism,

pituitary suppresionpituitary suppresion




Acute Adrenal Insufficiency: Acute Adrenal Insufficiency: Causes: congenital aplasia/hypoplasia, atrophy,Causes: congenital aplasia/hypoplasia, atrophy,

adrenal hemorrhage, septicemiaadrenal hemorrhage, septicemia

Clinically: fall in BP, pallor, sweating, mentalClinically: fall in BP, pallor, sweating, mental

changeschanges

Treatment: fluid and electrolyte management,Treatment: fluid and electrolyte management,

steroids, vasopressorssteroids, vasopressors




Chronic Adrenal Insufficiency:Chronic Adrenal Insufficiency: Addison¶s disease Addison¶s disease

Rare in childrenRare in children

Autoimmune cause Autoimmune cause

Clinically: anorexia, weight loss, dehydration,Clinically: anorexia, weight loss, dehydration,

vomiting, diarrhea, pigmentation, hypoglycemicvomiting, diarrhea, pigmentation, hypoglycemic

convulsionsconvulsions

Diagnosis: mainly clinicalDiagnosis: mainly clinical

Treatment: cortisoneTreatment: cortisone




Congenital Adrenal Hyperplasia:Congenital Adrenal Hyperplasia: Genetic error in synthesis of CortisolGenetic error in synthesis of Cortisol

Decreased cortisolDecreased cortisol increased ACTHincreased ACTH

hyperplasiahyperplasia increased androgen productionincreased androgen production

Clinically: virilization, hypertrophy of clitoris, saltClinically: virilization, hypertrophy of clitoris, salt

lossloss

Diagnosis: 24 hour urine ketosteroids, serumDiagnosis: 24 hour urine ketosteroids, serum

electrolytes, xelectrolytes, x--raysrays

Treatment: adrenal suppression with CortisolTreatment: adrenal suppression with Cortisol




Cushing¶s syndrome:Cushing¶s syndrome: Hypersecretion of cortisol by the adrenalsHypersecretion of cortisol by the adrenals

Etiology: adrenal tumorsEtiology: adrenal tumors

Clinical manifestations: marked obesity,Clinical manifestations: marked obesity,

osteoporosis, muscle wasting/weakness, retardationosteoporosis, muscle wasting/weakness, retardation

of bone development, striae, virilization, buffalo humpof bone development, striae, virilization, buffalo hump

Lab data: increased plasma/urinary cortisol andLab data: increased plasma/urinary cortisol and

ACTH, dexamethasone test, X ACTH, dexamethasone test, X--raysrays

Treatment: surgical removal of tumor if present,Treatment: surgical removal of tumor if present,

cortisone,cortisone,




Pheochromocytoma:Pheochromocytoma: Functioning tumor arising from chromaffin cells.Functioning tumor arising from chromaffin cells.

Commonly arises from right adrenal medullaCommonly arises from right adrenal medulla

Clinically: sustained hypertension, headache,Clinically: sustained hypertension, headache,

nausea, vomiting, chest and abdominal painnausea, vomiting, chest and abdominal pain

Labs: elevated urine/plasma catecholaminesLabs: elevated urine/plasma catecholamines

Treatment: surgical removal of tumor, BP controlTreatment: surgical removal of tumor, BP control



Disorders of the GonadsDisorders of the Gonads

Definitions:Definitions: Puberty: development of secondary sexualPuberty: development of secondary sexual

characteristics where the capacity to reproduce ischaracteristics where the capacity to reproduce is

attainedattained

Thelarche: breast development (12y/o)Thelarche: breast development (12y/o)

Pubarche: appearance of pubic hair (12Pubarche: appearance of pubic hair (12--13y/o)13y/o)

Menarche: first menstrual cycle (13y/o)Menarche: first menstrual cycle (13y/o)




Cryptorchidism:Cryptorchidism: Undescended testes in otherwise normal boysUndescended testes in otherwise normal boys

Orchidopexy usually done by 2 years of ageOrchidopexy usually done by 2 years of age




Precocious Puberty:Precocious Puberty: appearance of secondary sex characteristicsappearance of secondary sex characteristics

below 8 years of agebelow 8 years of age

Etiology: brain tumor, teratoma, hepatoma,Etiology: brain tumor, teratoma, hepatoma,

chorioepithelioma, tumor in the gonads, adrenalchorioepithelioma, tumor in the gonads, adrenal

hyperplasiahyperplasia

Treatment: MedroxyprogesteroneTreatment: Medroxyprogesterone




Hermaphroditism:Hermaphroditism: True hermaphroditism: both testicular and ovarianTrue hermaphroditism: both testicular and ovarian

elements are present, ambigous external genitaliaelements are present, ambigous external genitalia

Chromosome XX or XYChromosome XX or XY

Pseudohermaphroditism: one type of gonadalPseudohermaphroditism: one type of gonadal

tissue is found and external ambigous genitaliatissue is found and external ambigous genitalia

resembles that of opposite sexresembles that of opposite sex

Causes: CAH, tumors, maternal intake of Causes: CAH, tumors, maternal intake of

hormoneshormones



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