ENDO HOUR

1. ENDO HOUR Marianne Joy B. Advincula, M.D.

2. A.I. • 13/M • Malabon Follow up

3. 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

4. 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.

5. 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

6. The hyperpigmentedgingivae and, dusky lips prompted follow-up, where the patient was assessed to be cyanotic. • 2D-Echo and ECG done revealed normal findings

7. 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.

8. 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.

9. 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

10. Past Medical History • previous hospitalization as above • (+) mumps at 7 years old; (-) mumps, chickenpox • (-) surgery; (-) allergies

11. Family Medical History • (+) HPN – mother’s side, (-) BA, CA, DM • No other family member with similar illness • (+) PTB – older sister, completed treatment

12. 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.

13. Immunization History • (+) BCG, OPV3, DPT3, MMR, measles, Hepa B

14. 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.

15. 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.

16. 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.

17. 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, anictericsclerae, no neck vein engorgement, (-) CLAD, no tonsillopharyngeal congestion, (-) hyperpigmentedgingivae, (-) dark spots on the tongue, (-) hyperpigmentation of the nape (-) anterior neck mass

22. Equal chest expansion, clear breath sounds, (-) rales, (-) wheeze • Adynamicprecordium, 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

23. Addison Disease

24. 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.

25. Pathophysiology • Primary adrenal insufficiency- is a result of destruction of the adrenal cortex. The zonaglomerulosa, the outer layer of the adrenal gland, produces aldosterone. Cortisol is produced in both the zonafasciculata and the zonareticularis, the middle and innermost layers of the adrenal gland, respectively. Dehydroepiandrosterone is produced in the zonareticularis.

26. 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.

27. 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.

28. 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

29. 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

30. 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

31. 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

32. 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.

33. 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

34. 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

35. 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.