ENDO HOUR

Marianne Joy B. Advincula, M.D.

A.I. 13/M MalabonFollow up

History of Present Illness

The patient was apparently well until… 8 yrs prior to consult (August 2003)- the

patient had moderate to high-grade fever

associated with productive cough and weakness.

On OPD consult, urinalysis done revealed pus cells of 5-6. Assessment was UTI.

Patient was started on Clarithromycin

At home, the fever persisted and the patient had 1 episode of generalized tonic-clonic seizures lasting for one minute, when his fever reached 40 degrees Celsius. This was followed by 2 episodes of vomiting, prompting consult at the Seamen’s Hospital, and the patient’s subsequent admission.

Physical examination revealed harsh breath sounds on both lungs and a chest x-ray done showed hazy infiltrates at the right lower lung field.

Assessment: Pneumonia Ampicillin 500 mg q6 IV x 1 week then

px was discharged. At home, px was noted by the mother to

be dark

The hyperpigmented gingivae and, dusky lips prompted follow-up, where the patient was assessed to be cyanotic.

2D-Echo and ECG done revealed normal findings

The following year, the mother of the patient opted to observe the patient’s darkened skin.

Symptoms persisted, this prompted consult with several dermatologists, who only assured the patient’s mother about the condition.

4 months, prior to consult, the patient was brought to the JRMMC for evaluation. Patient was assessed to have Addison’s disease and was referred to the PGH for further evaluation and management.

In PGH, the patient was initially seen in the OPD and was worked-up for adrenocortical insufficiency.

Review of Systems

(-) fever (-) headache (-) chest pain (-) bowel mov’t. changes (-) cough ( -) seizures (-) DOB (-) urinary changes (-) colds (-) vomiting (-) abdominal

pain (-) easy fatigability (-) dysphagia (-)

anorexia (-) easy bruisability  

Past Medical History

previous hospitalization as above (+) mumps at 7 years old; (-) mumps,

chickenpox (-) surgery; (-) allergies

Family Medical History

(+) HPN – mother’s side, (-) BA, CA, DM No other family member with similar

illness (+) PTB – older sister, completed

treatment

Birth and Maternal History

 Full term to a then 39 year old G4P3 mother (3013) via spontaneous vaginal delivery assisted by a physician with no report of fetomaternal complications at birth. No maternal intake of drugs, exposure to teratogens, no exposure to radiation during pregnancy. Mother had regular pre-natal check-up at Polyclinic Hospital.

Immunization History

(+) BCG, OPV3, DPT3, MMR, measles, Hepa B

Nutritional History

Patient was breastfed up to 6 months and was on formula milk up to 2 years old. He started feeding with soft solids at 6 months. Patient currently eats 3 meals a day, consisting of rice and viand of meat, fish, or vegetables.

Developmental History

Social smile at 2 months head control at 3 months crawled at 9 months uttered few words at 11 months walked alone at 13 months.

Personal Social History

 The patient is the 4th of 5 children. The mother is 40 years old and is currently unemployed. The father is 43 years old and is a seaman. Patient lives with his parents and four other siblings.

Physical Examination

Awake, not in cardiorespiratory distress, ambulatory (-) alacrima

BP 120/80 HR 90 RR 20 Temp 37.2

Height 146 cm Weight 33.5 kg BSA 1.17 m2

Slightly pale conjunctivae, anicteric sclerae, no neck vein engorgement, (-) CLAD, no tonsillopharyngeal congestion, (-) hyperpigmented gingivae, (-) dark spots on the tongue, (-) hyperpigmentation of the nape (-) anterior neck mass

Equal chest expansion, clear breath sounds, (-) rales, (-) wheeze

Adynamic precordium, normal rate, regular rhythm, distinct heart sounds, apex beat at 5th ICS LMCL, (-) murmur

Flat abdomen, normoactive bowel sounds, liver and spleen not palpable, no palpable mass, non-tender

Pink nailbeds, (-) edema, (-) cyanosis, full equal pulses, (-) hyperpigmented knuckles

Grossly male genitalia

Addison Disease

Addison Disease

1855- Thomas Addison first described adrenal insufficiency

Originally, the disease usually resulted from an infection of the adrenal gland

the most common infection was tubercu In developed countries, Addison disease

most commonly results from nonspecific autoimmune destruction of the adrenal gland.

Pathophysiology

Primary adrenal insufficiency- is a result of destruction of the adrenal cortex. The zona glomerulosa, the outer layer of the adrenal gland, produces aldosterone. Cortisol is produced in both the zona fasciculata and the zona reticularis, the middle and innermost layers of the adrenal gland, respectively. Dehydroepiandrosterone is produced in the zona reticularis.

Clinical findings are noted after 90% of the adrenal cortex has been destroyed.

Precipitating events are multifactorial and include autoimmune, infectious (eg, mycobacterial, fungal), neoplastic (eg, primary, metastatic), traumatic, iatrogenic (eg, surgery, medication), vascular (eg, hemorrhage, emboli, thrombus), and metabolic (eg, amyloidosis) events.

With the destruction of the adrenal cortex, feedback inhibition of the hypothalamus and anterior pituitary gland is interrupted, and corticotropin is secreted continuously.

Corticotropin and melanocyte-stimulating hormone (MSH) are both components of the same progenitor hormone

When corticotropin is cleaved from the prohormone, MSH is concurrently released.

The increased MSH level results in a characteristic bronze hyperpigmentation.

Frequency 5 or 6 cases per million population per

year, with a prevalence of 60-110 cases per million population

Sex The male-to-female ratio is 1:1.5-3.5

Age most common in people aged 30-50 years

Causes

Multifactorial, may include: Autoimmune infectious (eg, mycobacterial, fungal) neoplastic (eg, primary, metastatic) Traumatic iatrogenic (eg, surgery, medication) vascular (eg, hemorrhage, emboli,

thrombus) metabolic (eg, amyloidosis) events

Work up

serum electrolytes Hyponatremia is the most common finding

and occurs in 90% of patients Hyperkalemia is found in 60-70% of

patients Hypercalcemia is uncommon and found in

approximately 5-10% of patients

serum cortisol levels- from a sample of blood obtained in the morning

The preliminary test for adrenal insufficiency Morning cortisol levels greater than 19 mcg/dL

(reference range, 5-25 mcg/dL) are considered normal, and no further workup is required.

Values less than 3 mcg/dL are diagnostic of Addison disease.

Values in the range of 3-19 mcg/dL are indeterminate, and further workup is needed

Imaging studies

Both computed tomography (CT) and magnetic resonance imaging (MRI) demonstrate a diminished adrenal gland in patients with autoimmune destruction and an enlarged adrenal gland in patients with infection.

CT adequately shows the calcification that occurs in adrenal failure caused by tuberculosis. The calcification may be apparent in the acute phase of infection, but it is usually recognized in the chronic phase of infection.

Treatment

In Addison disease, the adequate replacement of glucocorticoids and mineralocorticoids is the primary goal. Studies show that dehydroepiandrosterone

therapy improves the patient's quality of life

With optimum dosing, the glucocorticoids are adequately replaced with minimal adverse effects

Underdosing of glucocorticoids results in continued adrenal insufficiency.

In children, nocturnal hypoglycemia can result in seizures.

Overdosing of glucocorticoids results in weight gain, increased blood pressure, and osteoporosis

The resolution of symptoms and the correction of electrolyte abnormalities are the customary signals in determining the adequacy of replacement.

In patients at risk for osteoporosis, monitor serum and urine cortisol levels; this method appears to be the best available assessment of steroid dosing.