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Endocrine Diseases

Hypercorticism Gigantism Acromegaly


(Cushing’s Disease)

Type of Disease
Hyperpituitarism

Pathology
Overproduction of ACTH from Over production of Overproduction of GH
pituitary GH in a child in an adult

Cause
Pituitary: Tumor or Functioning adenoma of anterior pituitary
hyperplasia

Signs & Symptoms


Hirtuism, Eunuchoid habitus, Course facial features,
masculinization/virilization elongated arms and prominent eyebrow,
(indicative of adrenal tumor legs, deficient genital massive scalloped
due to androgens), striae, and secondary sex tongue, myopathy,
central obesity, round face, characteristics nerve entrapment,
hyperpigmentation (indicative prognathism, spade-
of pit or ectopic production of shaped hands and
ACTH), severe proximal feet, osteoporosis,
myopathy, psychological HTN, hypertrophied
disturbances, osteoporosis, viscera
buffalo hump, DM, HTN, facial
plethora, acne, menstrual
disorders

Diagnosis
Hypokalemia, alkalosis, CRH
assay (differentiate Cushing GH Level GH level
Ds from ectopic ACTH)

↑ cortisol

Treatment
Surgical removal of producing
tumor
**Octreotide
High doses of hydrocortisone (Sandostatin)
1 day prior to surgery and Bromocriptine
300mg continuous IV on the (Parlodel)
day of surgery

Iatrogenic Cushing’s Disease:


Hydrocortisone 100mg QD,
metyrapone (Metopirone),
Aminogluthemide (Cytadren)
in combination w/
Ketoconazole

Disease
Prolactinoma
(Amenorrhea-Galactorrhea Syndrome) Simmond’s Disease Craniopharyngioma
(Pituitary Cachexia)
**most common functional pituitary
tumor**

Type of
Disease Hyperpituitarism Hypopituitarism

Pathology
Overproduction of prolactin Underproduction of pituitary Pressure on pituitary thus
tropic hormones decreasing output of
tropic hormones

Cause

Functioning adenoma of anterior Destruction of pituitary Vestigial remnants of


pituitary gland from: Rathke’s pouch form slow
Non-secretory adenoma growing cystic tumors
Metastases to pituitary along craniopharyngeal
Adjacent tumor placing canal
pressure on pituitary
Infarction after delivery
Inflammatory Granulomatous
Ds
Autoimmune pituitary
destruction
Irradiation
Empty Sella Tursica Sx
Infiltration: sarcoidosis,
histocytosis,
hemachromatosis

Lesions of Hypothalamus
from:
Craniopharyngioma,
Glioma
Germinoma

Signs &
Symptoms Women Males Pressure on pituitary – erosion
Galactorrhea Visual defects of surrounding bones,
Amenorrhea Impotence hypothalamus –
Oligomenorrhea Headaches hydrocephalus, optic nerves –
Infertility EOM paralysis bitemporal hemianopia
Early Late
manifestations manifestations

Diagnosis
↑ prolactin level ↓ tropic hormones ↓ tropic hormones

Treatment

Bromocriptine (Parlodel)

Sheehan’s Syndrome Diabetes Insipidus Inappropriate ADH


(Post-partum Pituitary Secretion
Necrosis) (SIADH)
Type of Disease
Hypopituitarism Hypopituitarism of Hyperpituitarism of
posterior pituitary posterior pituitary

Pathology
Enlargement of Underproduction of ADH Overproduction of ADH
pituitary during
pregnancy followed by
sudden hypotension
precipitates necrosis
leading to decreased
pituitary secretion
OR
DIC, cavernous sinus
thrombosis, DM

Cause
Sudden infarction of Acquired: **Cranial: Intracranial trauma
anterior lobe due to Compression familial (hemorrhage), infection
hemorrhage or shock or (meningitis), cytotoxic
during delivery or destruction drugs
traumatic abortion of OR
hypothalamu Ectopic ADH secretion
s OR
posterior
pituitary by
inflammatory
and
infiltrative
lesions,
tumors,
radiation,
trauma or
surgery

Signs & Symptoms


Failure of lactation, Large volumes of dilute
gonadotropic urine (polyuria), excessive
deficiency, ACTH, TSH, thirst (polydipsia), and
MSH deficiency hypernaturemia, prefer ice
cold water
Empty sella turcica

Diagnosis
Water Depravation Test

Treatment
Vasopressin
Lypressin (Diapid)
Desmopressin Acetate
(DDAVP, concentraid)

Cretinism Myxedema Hashimoto’s Thyroiditis


(Autoimmune
Thyroiditis)
Type of Disease
Hypothyroidism

Pathology
Underproduction of Underproduction of Circulating
thyroid hormones during thyroid hormones in autoantibodies to
infancy older children or adults thyroglobulin, follicular
cell membranes and
Usually due to iodine surface receptors.
deficiency

Cause

1. Deficiency of thyroid tissue: agenesis or 1. Autoimmune


hypoplasia, surgery, radiation disease of
2. Goiter: iodine deficiency, goitrogenic humoral and
agents, Hashimoto’s Thyroiditis CMI
3. Hypothalamic lesions and hypopituitarism 2. Familial
4. Peripheral resistance to thyroid hormones 3. HLA DR5

**Most common form


of hypothyroidism**

Signs & Symptoms

Failure of normal mental Cold, lethargic, mentally Features of


and bodily development, dull, coarse features, hypothyroidism,
short stature, wide-set puffy skin, hair loss, progressive painless
eyes, protuberant accumulation of moderate enlargement
tongue, dry skin, mucinous ground of thyroid
coarse facial features substance within dermis
(myxedema) Increased incidence of
Neurologic: spasticity lymphoma
deafness, severe mental CVS: cardiomegaly,
retardation bradycardia Often associated with
other autoimmune
CNS: mental slowing, disorders (SLE, RA,
stupor, coma Graves Ds)

Diagnosis
↓ fT3 and fT4, ↑ sTSH >5 (except hypothalamic Test for Ab
lesions and hypopituitarism) TSH, T4
ESR

Treatment

Levothyroxine (T4) Levothyroxine (T4) (Synthroid)


(Synthroid) Infants (1-6mo) 1-1.5mg
Tx must start w/in 2- Adult .017mg
3mo to reverse sx Recheck after 6-8 weeks

Subacute Post Partum Thyroiditis Subclinical


Granulomatous (PPT) Hypothyroidism
Thyroiditis (Silent Thyroiditis)
(DeQuervain’s
Thyroiditis)
Type of Disease

Hypothyroidism

Pathology
Granulomas develop in
thyroid gland resulting
in enlargement

Cause

Uncertain, viral infection Uncertain, response to Hashimotos, Tx Grave’s


suggested pregnancy Ds, Lithium, inadequate
thyroid replacement,
Iodine-containing rx,
pulsatile TSH, Adrenal
insufficiency, drugs, TSH
producing tumor

Signs & Symptoms

Painful enlargement of NONPainful some asymptomatic,


thyroid, self limited ds, enlargement of thyroid, Some symptomatic:
recovery in about 3-6 self limited ds cardiac, lipid,
months Phase I: hyperthyroid, ↓ neurobehavior (esp.
Phase I: hyperthyroid, ↓ to nl TSH, ↑ fT3&T4, ↓ depression)
to nl TSH, ↑ fT3&T4, ↓ RAIU
RAIU Phase II: ↓ T3&T4, ↑
Phase II: ↓ T3&T4, ↑ TSH, ↑ RAIU
TSH, ↑ RAIU Phase III : TSH, T3, T4
Phase III : TSH, T3, T4 wnl
wnl Can mimic pp
depression
Diagnosis
TSH ↑ TSH, nl T4, fT4
T4
RAIU

Treatment

Hyperthyroid state: sx:beta-blockers Tx symptomatic as well


Asx: monitor as asymptomatic w/
Hypothyroid state: Levothyroxine
Sx: Levothyroxine for 6 – 12 mo. Recheck 6 weeks
Asx: monitor
Graves’ Disease Diffuse Nontoxic Goiter
Multinodular Goiter (Toxic Diffuse Goiter) (Simple Goiter)
(Plummer’s Ds)
**Most common form
of hyperthyroidism**

Type of Disease
Hyperthyroidism

Pathology

Irregular nodular Excessive stimulation by Diffuse enlargement of


enlargement of thyroid thyroid stimulating thyroid
due to distended immunoglobulins
follicles with marked
colloid accumulation,
fibrosis, hemorrhage

Cause
Transformation from Uncertain, probably Iodine deficiency due to:
long-standing Simple caused by immunologic 1. Deficiency in food
Goiter mechanism and defect and water
in Ag-specific 2. Goitrogens
suppressor T-cells 3. Physiologic demand

Associated w/ HLA-DR3
and autoimmune Ds
(SLE, Hashimoto’s
Disease)

Signs & Symptoms

Might be sx-free Features of Diffuse enlarged thyroid


hyperthyroidism:
Complication include: nervousness,
pressure on trachea, restlessness, emotional
esophagus occasional lability, tachycardia,
Obstruction of SVC w/ palpitations, arrythmias,
retrosternal extension of dyspnea, heat
goiter. intolerance, sweating,
fatigue, tremor, hair
loss, lid lag and stare,
atrial fibrillation,
thyromegaly,
exophthalmos

Thyroid Storm

Self limited in 30%

Diagnosis
↑ fT3 & fT4, ↓ sTSH
↑T3RIA, Thyroid Ab ↑ fT3 & fT4, ↓ TSH

Treatment
Propylthiouracil
Propylthiouracil Methimazole
Methimazole *Radioactive iodide
*Radioactive iodide Surgery: Subtotal
Thyroidectomy
Subclinical Primary
Hyperthyroidism Hyperparathyroidism Secondary
Hyperparathyroidism
**most common cause of
hypercalcemia

Type of Disease
Hyperthyroidism Hyperparathyroidism

Pathology
Compensatory
hyperplasia in response
to hypocalemic state

Cause
Euthyroid Graves, Parathyroid adenoma
autonomous Carcinoma **Chronic renal failure
adenoma, Excessive hyperplasia Malabsorption Sx
THR Tx, Thyroid Vit D deficiency
Hormone
suppressive therapy

Signs & Symptoms


Asymptomatic or
symptomatic: atrial Osteitis Fibrosa Cystica
fibrillation, (cysts formed from
osteoporosis resorption of Ca – leads to
pathologic fx and “Brown
tumors”) BONES
Nephrolithiasis, gallstones –
STONES
Pancreatitis – GRONES
Peptic Ulcers – MONES
Assoc. w/ MEN

Diagnosis
Nl fT4, FTI, T3RIA ↑serum Ca (3 consec. ↓ serum Ca
↓ TSH Tests;unless >12) ↑ serum phosphate
↓ serum phosphate ↑PTH
↑PTH ↑ALP
↑urinary Ca in 24hr urine
↑ALP
↑cAMP in serum or urine
radiograph (find brown
turmors)

Treatment
If on suppression CA or adenoma: surgery
therapy: ↓ Rx Acute Ds: ↑ excretion w/ saline & furosemide,
Asx: repeat TSH 3- Mithramycin, Calcitonin, Diphosphates, Hydrocortisone,
6mo, Gallium Nitrate
24hr RAIU – if ↑ use Moderate Ds : hydration, diuresis, phosphates,
beta blocker or calcitonin, indocin, ASA, Disodium Etdronate
antithyroid rx Crisis: hopitlization, hydration Mithramycin, Disodium
Etidronate
Hypoparathyroidism Thyroid Cancer

**VERY RARE***

Type of Disease
Hypoparathyroidism Papillary (most commom), Follicular,
mixed, anaplastic, medullary (can be
assoc w/ MEN)

Pathology
Inadequate secretion of PTH or end-
organ resistance

Cause

Idiopathic, post surgical, radiation Recurrent thyroid CA, hx of radiation


therapy, autoimmune ds, parathyroid exposure
aplasia associated w/ DiGeorge’s

Signs & Symptoms

Severe cases: cardiac arrhythmias, Vary


tetany, ↑ intracranial pressure w/ Dysphagia, hoarseness, firm and
papilledema, cataracts, diarrhea, immobile nodules, cervical
epilepsy, Trousseau’s Sign, numbness, lymphadenopathy
tingling, Chvestek sign
Suspect nodules in males >40 and
females >50 and ALL nodules in children

Diagnosis

↓ Serum Ca sTSH, Ab, Tg (+ in malignancy)


↑phosphate levels Thyroid scan (cold nodules),
↓PTH Calcitonin level
U/S
FNA biopsy

Treatment

Thyroidectomy (suspect CA, compression,


cosmetic)
RIA(inoperable, residual ds in neck,
invasion, metastasis)
Chemotherapy
T4 suppressive therapy of TSH
Disease
Conn’s Syndrome
Cushing Syndrome (Primary
Hyperaldosteronism)

Type of Disease
Hyperadrenalism

Pathology

**Pituitary: Tumor or hyperplasia (Cushing Disease) Hypersecretion of


aldosterone
Adrenal: Tumor

Ectopic production of ACTH or CRH (usually


carcinoid tumor of lung or pancreas)

Iatrogenic

Cause
Overproduction of ACTH from pituitary(Cushing Ds) **Adrenocortical
OR overproduction of CRF from hypothalamus OR adenoma
ectopic ACTH production OR Adrenal tumor Hyperplasia
producing cortisol Carcinoma (rarely)

Signs & Symptoms

Hirtuism, masculinization/virilization (indicative of Polyuria, polydypsia,


adrenal tumor due to androgens), striae, central muscle weakness, renal
obesity, round face, hyperpigmentation (indicative K loss
of pit or ectopic production of ACTH), severe
proximal myopathy, psychological disturbances, HTN but
osteoporosis, buffalo hump, DM, HTN, facial hyporeninemia (due to
plethora, acne, menstrual disorders, bruising, CHF, feedback from
edema, polyuria, polydipsia aldosterone)

Diagnosis

Hypokalemia, alkalosis, CRH assay (differentiate ↑ Aldosterone level


Cushing Ds from ectopic ACTH) ↓ Renin Level
↑ (pituitary or ectopic) or ↓ (adrenal adenoma) Metabolic alkalosis
ACTH depending on cause, ↑ or ↓ MSH depending Exessive K in urine
on cause, ↓ serum K
↑serum and 24° urine cortisol, ↑ serum glucose Saline Suppression Test
Dexamethasone Suppression Test
CT , then Venous/Arterial
Pituitary MRI to confirm sampling

Treatment
Spironolactone
Surgical removal of producing tumor, irradiation or (Aldactone)
resection of hyperplastic adrenals Or Diuretics
High doses of hydrocortisone 1 day prior to surgery
and 300mg continuous IV on the day of surgery

Iatrogenic Cushing’s Disease: Hydrocortisone


100mg QD, metyrapone (Metopirone),
Aminogluthemide (Cytadren) in combination w/
Ketoconazole
Disease

Glucocorticoid Adrenogenital Syndrome Secondary


Remediable Adrenal
Aldosteronism Insufficiency
(GRA)

Type of Disease

Hyperadrenalism Hypoadrenalism

Pathology
Hypersecretion of Congenital Adrenal Decreased
aldosterone/glucocorticoid Adrenal Virilization: production of
suppression Hyperplasia Tumor or ACTH
(CAH): inborn hyperplasia
enzyme defect resulting in an
which inhibits overproductio
cortisol thus ↑ n of androgens
ACTH causing
adrenal
hyperplasia and
overproduction
of androgens

Cause
Abnl hybrid gene results Congenital Adrenocortical, Destructive
in stimulation of hyperplasia, pituitary or
aldosterone by ACTH adenoma or lesions of the
carcinoma hypothalamus

Signs & Symptoms


HTN Present @ brith Virilization of
w/ virilization of female
female

Salt wasting

Diagnosis
↑ aldosterone level ↑ ACTH ↓ ACTH
↓ cortisol level ↓ cortisol level ↓ cortisol level
↑androgens nl aldosterone

Treatment
Dexamethasone given to Corticotropin
predisposed mother to prevent (only parenteral)
fetus from genital deformation Hydrocortisone
(oral)
IV Hydrocortisone
Mineralcorticoids
Disease
Addison’s Disease Pheochromocytoma
(Primary Adrenocortical Insufficiency)

Type of Disease
Hypoadrenalism Ds of Hypersecretion of the
Adrenal Medulla

Pathology
Destruction of adrenal cortex resulting in ↓ Tumor arising from chromaffin
cortisol production and aldosterone cells of adrenal medulla secreting
catecholamines
(outside the adrenals:
paragangliomas)

Cause
***Idiopathic adrenalitis (autoimmune) Sporatic
*TB Familial
*Histoplasmosis
Amyloidosis, metastatic carcinoma, Some associated w/ MEN II, MEN
hemochromatosis III

(all resulting in damage to the pituitary or


hypothalamus)

Signs & Symptoms


Acute: rapid Chronic: insidious Paroxysmal or sustained HTN,
progression, shock, onset, malaise, angina, cardiac arrhythmias
septicemia, weight loss, leading to CHF, flushing,
Waterhouse- hypotension, loss of diaphoresis, palpitations, N/V
Friderichsen, DIC body hair, menstrual tachycardia,
w/ widespread irregularities, skin
hemorrhage in skin hyperpigmentation,
and organs, weakness, fatigue, Episodic HA, sweating, anxiety,
dehydration, anorexia, GI sx, tremor, visual disturbances,
hypotension, saltcravings, postural ringing in ears, papilledema, heart
weakness, hypotension murmurs, cardiomegaly
hypothermia, abd
pain, N/V Idiopathic often
assoc. w/ other
autoimmune diseases
Diagnosis
↓ cortisol ↑ catecholamines in serum and
↓ Na+ urine
↓ glucose Presence of VMA (Vanillylmandelic
↑ K+ acid)in 24° urine **pathnomonic
↑ ACTH MRI to confirm

Treatment
Acute: Chronic: Alpha adrenergic blockers w/ Beta
Cortisol 100mg IV Q Hydrocortisone 20- Blockers
6-8° until stable 30mg QD
Reduce over 5d to 2/3 given in am Surgery
maintenance dose of 1/3 given in
50mg/d afternoon
IV saline
Glucose Fludrocortisone
Disease
Ganglioneuroma/ Neuroblastoma Type I Diabetes Mellitus Type II Diabetes
Mellitus

Type of
Disease Ds of Hypersecretion of the Adrenal Metabolic Disorder of the Pancreas
Medulla

Pathology
Ganglioneuroma Neuroblastom Ab against beta cells Target tissue develops
Benign tumor of a destroy islet cells insulin resistance
ganglion cells Highly resulting in a decreased
malignant production of insulin
tumor from
neural crest

Cause
Tumor Immune Overeating, Obesity,
Viral (Cacksackie Virus – Genetics (large
molecular mimecry) predisposition)
Genetic (linked to HLA Risk factors: aging,
DR3&4 on sedentary lifestyle
Chromosome 6)

Signs &
Symptoms Onset early in life, but can Onset usually >30, but
Neuroblastoma: common in occur at any time, Wt is becoming more
childhood, abdominal mass, anemia, loss, dry skin, weakness, common in younger,
fever, wt loss Insulitis, DKA, upper segment
Hyperglycemia resulting obesity, polyuria, abnl
Commonly metastasizes to bone of in AGES & sorbitol insulin secretion,
skull and orbit (Hutchison-type) depositions, eventually insulin resistance, ↑
To liver (Pepper Syndrome) coma if untx, glucose production
insulinopenia, infections, from liver, ↑
polyuria, polyphagia, triglycerides d/t
polydipsia inability to activate
lipoprotein lipase,
Chronic Complications: hyperlipidemia
CAD, MI, stroke, indicates poor control
gangrene, cataracts,
artherosclerosis, Chronic Complications:
retinopathy, nephropathy, CAD, MI, stroke,
neuropathy, vascular gangrene, cataracts,
disease artherosclerosis,
retinopathy,
nephropathy,
neuropathy, vascular
Ds
Diagnosis
↓ insulin ↓ insulin
↑ HbA1c ↑ HbA1c
Ab to islet cells or insulin Fasting glucose
Fasting glucose >126mg/dL
>126mg/dL Random glucose
Random glucose >200mg/dL
>200mg/dL

Treatment 1. NPH BID w/ premeal Diet, exercise, wt loss


Lispro Sulfonylureas
2. Glargine Q HS w/ Glucophage
premeal Lispro Insulin (occas.)
Pt education
Goal: HbA1C 7% or lower Tx hyperlipidemia
Pt education
DKA tx: hydration, insulin
Disease

Insulinoma Gastrinoma
(Zollinger-Ellison
Syndrome)

Type of Disease
Pancreatic Tumor Pancreatic Tumor

Pathology
Insulin producing Gastrin Producing
tumor of the islet tumor of islet cells
cells

Cause
Tumor Tumor

Signs & Symptoms


Dizziness, confusion, Triad: gastrinoma,
bizarre behavior, gastric acid
seizure, coma hypersecretion,
peptic ulcer disease
10% malignant
Diarrhea, fluid
Assoc. w/ MEN I electrolyte imbalance

60% malignant

Assoc w/ MEN I
Diagnosis
↑ insulin
↓ glucose

Treatment

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