CASE-BASED SMALL GROUP DISCUSSION

Transcription

1 MHD II, Session VIII, Student Copy Page 1 CASE-BASED SMALL GROUP DISCUSSION MHD II Session VIII April 2, 2014 STUDENT COPY

2 MHD II, Session VIII, Student Copy Page 2 CASE 1 Chief Complaint: I ve just been feeling awful for the past year Case History: A 32-year-old woman presents with multiple concerns. She has had a 40 pound weight gain over the last two years and has felt generally weak. She has been having headaches about 1 to 2 times per week for the past 6 months. She believes that she has been emotionally labile with any little thing setting me off. She has also noticed some dark hair growth on her face for the last year. Her periods have been irregular and infrequent for the past 2 years. She denies having nipple discharge. The patient has been previously healthy. She has not had any surgeries. She takes no medications. She has never been pregnant. Her mother and father are in their late 60 s and have no significant medical problems. She has 2 brothers, both of whom are healthy. She has never smoked, drinks alcohol rarely and never has been a heavy drinker. She denies illicit drug use, including marijuana. Physical Exam: Vitals: P = 90/m reg, BP= 160/100 mm/hg (large cuff), R=14/min, T=98.9 O F, Height= 5'6", weight = 185 pounds. The patient appears to have generalized obesity with slight centripetal distribution. HEENT - Face slightly rounded and plethoric, dark hair present on the chin and upper lip, acne marks present. Visual fields are normal. No thyromegaly or adenopathy. Lung and cardiovascular exams are normal. Abdomen - obese with violaceous striae on the lower abdomen and in the axillary region. Neurologic exam Strength 4/5 in proximal muscles of upper and lower extremities, distal muscle strength 5/5. Sensory examination is normal. Muscles demonstrate some wasting. Skin - scattered ecchymoses on arms and thighs. Dark hair on legs. Laboratory Data: Basic Metabolic Panel Glucose 214 H [70-100] mg/dl Blood Urea Nitrogen 14 [7-22] mg/dl Creatinine 1.0 [ ] mg/dl Calcium 8.9 [ ] mg/dl Sodium 140 [ ] mmol/l Potassium 3.5 [ ] mmol/l Chloride 98 [98-108] mmol/l Carbon Dioxide 28 [20-32] mmol/l

3 MHD II, Session VIII, Student Copy Page 3 CBC WBC 7.3 [ ] k/ul RBC 4.47 [ ] m/ul Hgb 13.6 [ ] gm/dl Hct 39.3 [ ] % MCV 90 [85-95] fl MCH 30.5 [ ] pg MCHC 34.6 [ ] gm/dl RDW 12.8 [ ] % Plt Count 310 [ ] k/ul UA w/micro Color YELLO W [YELLOW] Clarity CLEAR [CLEAR] ph 5.0 [ ] Spec Gravity [ ] Protein NEG [NEG] Blood NEG [NEG] Glucose 2+ A [NEG] Ketones NEG [NEG] Bilirubin NEG [NEG] Urobilinogen 0.2 [ ] eu/dl NITRATE NEG [NEG] LEUKOCYTES NEG [NEG] RBC 0-2 [0-2] /hpf WBC 0-2 [0-5] /hpf In addition, the patient brought a copy of labs drawn by her primary care physician 6 months ago: Free T4 1.2 [ ] ng/dl FreeT3 252 [ ] pg/dl TSH 3.37 [ ] uu/ml Prolactin 3.5 Reference Values Female 2mo and up Non-pregnant: Pregnant: Postmenopausal: d to 2mo d to 7d Male 2mo and up d to 2mo d to 7d

4 MHD II, Session VIII, Student Copy Page 4 EXAM: PA & LAT CHEST COMPARISON: NONE AVAILABLE AT TIME OF EXAM FINDINGS: THE CARDIOVASCULAR SILHOUETTE IS NORMAL. THE LUNG FIELDS ARE CLEAR BILATERALLY. THERE IS NO EVIDENCE OF FOCAL LUNG OPACITY. THERE IS NO PNEUMOTHORAX OR PLEURAL EFFUSION. EDUCATIONAL OBJECTIVES CASE 1 1. Develop a problem list. The physician formulates a differential diagnosis based on the available data. The following screening test is ordered: Urine Free Cortisol 479 mcg <100mcg/24hours Collection start: 0800, Collection end: 0800, Interpret the test result. What is the likely diagnosis? Do the clinical manifestations support the test result and diagnosis? 3. What other screening test could be done to assess for this condition? 4. What is the differential diagnosis after the screening test(s) supports your clinical impression?

5 MHD II, Session VIII, Student Copy Page 5 Additional Laboratory Studies: ACTH 121 (9-52 pg/ml) Dexamethasone 2.0 mg PO Q 6 hours is administered for 48 hours.. Blood and urine samples are collected at baseline and at 48 hours for serum cortisol, urine free cortisol (UFC) and 17 (OH) corticosteroid [17 (OH) CS]. Results are shown in the following table: Baseline 48 hours 17 (OH) CS 28 8 (2.5-8 mg/24 hr) UFC (<100 mcg/24 hr) 8am cortisol 36 3 (6-25mcg/dl) 5. With this information what is the diagnosis in this patient? 6. What diagnostic strategy would you recommend based on the above results? 7. A 6mm tumor is identified in the expected anatomic region. What therapeutic strategy would you recommend? 8. Review Case Images Endocrinology Set 8

6 MHD II, Session VIII STUDENT Copy - Page 6 Case 2 CC: I feel tired all the time x 6 months HPI A 24-year old woman presents with a 6 month history of progressive fatigue and generalized weakness. Her appetite has been decreased and she experiences occasional nausea. She has no abdominal pain but an intermittent vague diffuse abdominal ache. She has lost about 15 pounds of weight over the past 6 months. However, she has been trying to play more tennis to get my energy back. She has no fever or chills. Last week while playing tennis she had a near-fainting spell after bending down to tie her shoe and then standing back up. She feels silly about being at the doctor today because she feels that workrelated stress is what has worn me down. Her boyfriend encouraged her to come and get a physical exam. PMHx Hypothyroidism diagnosed at age 18 Medications Levothyroxine 125mcg daily Acetaminophen PRN tension headache Social history She has never smoked cigarettes. She drinks 1-2 glasses of wine several times per week. She denies illicit drug use. Family history Mother hypothyroidism Father early Parkinson disease Siblings sister with breast cancer diagnosed at age 38; sister with hypothyroidism ROS No fevers or chills Menstrual periods are irregular for the past 6 months. Home pregnancy tests done over the past 4 months have been negative. Physical examination Well-developed, NAD, appears well-tanned Height 5 6, weight 132 pounds Temp F, heart rate 102 beats/min, blood pressure 96/62, respirations 12 Upon standing patient feels dizzy, heart rate increases to 125 beats/min Eyes anicteric sclera Mouth no oral lesions, dry mucous membranes Neck no lymphadenopathy, thyroid gland not palpable Lungs clear to auscultation and percussion bilaterally Heart S1S2, tachycardic but regular, no S3, no S4, no murmur

7 MHD II, Session VIII STUDENT Copy - Page 7 Abdomen normoactive bowel sounds, no hepatosplenomegaly, mild diffuse tenderness without guarding, no masses Extremities no peripheral edema, no cyanosis or clubbing The physician formulates a differential diagnosis and orders the following laboratory data. Basic Metabolic Panel Glucose 68 [70-100] mg/dl Blood Urea Nitrogen 8 [7-22] mg/dl Creatinine 0.8 [ ] mg/dl Calcium 8.9 [ ] mg/dl Sodium 128 [ ] mmol/l Potassium 5.6 [ ] mmol/l Chloride 101 [98-108] mmol/l Carbon Dioxide 20 [20-32] mmol/l CBC w/ DIFF WBC 3.8 [ ] k/ul RBC 3.89 [ ] m/ul Hgb 10.4 [ ] gm/dl Hct 33.2 [ ] % MCV 82 [85-95] fl MCH 30.3 [ pg MCHC 33.3 [ gm/dl RDW 16 [ ] % Plt Count 200 [ ] k/ul TSH 3.25 [ ] mn/ml Learning objectives 1. What is your next step? Additional laboratory data: 3:00pm Cortisol 0.4 g/dl Blood drawn between 7-9am: 4-22 ug/dl Blood drawn between 3-5pm: 3-17 ug/dl 250mcg of cosyntropin is administered intravenously. 3:30pm Cortisol 0.6 g/dl 4:00pm Cortisol 0.6 g/dl ACTH pending

8 2. Interpret the above test results. MHD II, Session VIII STUDENT Copy - Page 8 The physician obtains additional history and physical exam findings: The patient works in an office building and plays tennis in-doors. She denies having significant sun exposure over the past months. The creases in her hands and axilla appear hyperpigmented. 3. What is your diagnosis? 4. What is the most likely etiology of her disease process? 5. Correlate the clinical and laboratory findings with the pathophysiology associated with this disease process.

9 MHD II, Session VIII STUDENT Copy - Page 9 6. Contrast the primary vs secondary forms of this disease process. Complete the chart. Primary Secondary Hyperpigmentation Hyperkalemia High ACTH Low aldosterone Hyponatremia Other hormone deficiencies 7. Discuss the approach to treatment.

10 MHD II, Session VIII STUDENT Copy - Page 10 Case 3 Cc: I have been urinating way too much for too long The patient is an 18 year-old male who noted the onset of severe headache and markedly increased urination about 18 months prior to admission. He stated that the onset of the increased urination had been dramatic and abrupt and he could recall the exact day it had begun. He said that he would urinate times during the waking hours and would have to get up 5-6 times per night for further urination. He said he had an intense thirst with the craving for ice cold beverages and consequently during the last few months had been consuming vast quantities of water, but he seemed quite sure that the increase in urinary frequency preceded the increase in drinking. As an outpatient he, on the advice of his doctor, made a 24-hour urine collection and the volume of that collection was 5 liters. He further stated that he never developed body or facial hair and had never shaved. He felt embarrassed that while the voices of many of his friends were deepening, he was still a soprano. Although he tried to involve himself in vigorous body building activity, he felt that his muscular development was lacking. He also lacked libido and had been unable to have an erection for about one year. He said that he had been growing until the age of 14 years when his growth simply ceased. Over the time course of all these symptoms, he felt generally tired and depressed. PAST MEDICAL HISTORY Although the patient has been generally healthy prior to the onset of the current symptoms, it is notable that 6 months ago he was involved in an automobile accident. His car was hit in the rear when he was switching from the center to the left lane and did not see the car coming up beside him. He did not sustain head trauma. PHYSICAL EXAMINATION The patient was alert and oriented to person, time and place. Pulse - 56/min; blood pressure - 110/70 mmhg; respiratory rate 16/min; temperature - 96 F; height - 65 inches; weight pounds. HEENT Neck Chest Lungs Heart Abdomen Genitalia Extremities Skin Neurologic Hair Examination was unremarkable, except that on gross confrontation his temporal visual fields were constricted bilaterally. Thyroid not palpable. Bilateral white liquid was expressed with firm squeezing from his nipples. Clear S1 and S2 were normal. There was no S3, S4 or murmurs. Unremarkable The penis was small, measuring about 4-6 cm in length. The scrotal sack lacked rogation, pigmentation or a median raphe. The testes were soft and small, measuring about 1.5 cm in longest diameter. Within normal limits Cool, dry, pale. The neurologic examination was normal, except for generalized muscle weakness and hung-up deep tendon reflexes. Very little hair was found on the face or in the axillary or pubic areas.

11 MHD II, Session VIII STUDENT Copy - Page 11 LABORATORY DATA Glucose 100 mg/dl (nl ) sodium 145 mmol/l (nl ) Potassium 4 mmol/l (nl ) Chloride 100 mmol/l (nl ) CO2 24 mmol/l (nl 20-32) Calcium 9.4 mg/dl (nl ) BUN 30 mg/dl (nl 7-22) Creatinine 0.9 mg/dl (nl ) UA w/micro Color PALE [YELLOW] YELLOW Clarity CLEAR [CLEAR] ph 5.0 [ ] Spec Gravity A [ ] Protein NEG [NEG] Blood NEG [NEG] Glucose NEG [NEG] Ketones NEG [NEG] Bilirubin NEG [NEG] Urobilinogen 0.2 [ ] eu/dl NITRATE NEG [NEG] LEUKOCYTES NEG [NEG] RBC 0-2 [0-2] /hpf WBC 0 [0-5] /hp EDUCATIONAL OBJECTIVES CASE 3 1. Define polyuria. What are the potential mechanisms? The physician formulates a differential diagnosis and orders the following: ENDOCRINE INVESTIGATIONS NORMAL Testosterone 0.1 ug% ug% LH 3 mu/ml 2-20 mu/ml FSH 2 mu/ml 2-20 mu/ml

12 MHD II, Session VIII STUDENT Copy - Page 12 GH Undetectable < 5 ng/ml T4 2 ug% 6-15 ug% T3 40 ng% ng% TSH 0.05 uu/ml uu/ml Prolactin 85 ng/ml 5-15 ng/ml WATER DEPRIVATION TEST Time Weight B.P. Pulse Urine Osm. Plasma Osm. Urine (hrs) (lbs) (mmhg) (bts/min) (mosm/kg) (mosm/kg) Output / / / / (5 U AVP) / / / Serum AVP (arginine vasopressin) unmeasurable just before exogenous AVP was given. 2. Explain the results of the water deprivation test. What is the cause of this patient s polyuria? MRI of the brain is done and shows a large focally calcified mass with supra-sella extension. 3. Correlate which symptoms or signs reflect which hormone deficiencies in this patient. 4. Based on the information provided, what is the most likely site of the mass seen on brain MRI?

13 MHD II, Session VIII STUDENT Copy - Page Histologically the mass consists of nests or cords of stratified squamous epithelium embedded in a spongy reticulum. Keratin formation is seen, as is calcification. There are foci of cholesterolrich cyst contents, fibrosis, and chronic inflammatory reaction. What is your diagnosis? 6. What mechanism could be responsible for the hyperprolactinemia? 7. What is the treatment of central diabetes insipidus? Case 4 Students will not have case data until the session meets. *****