"Pediatric Endocrine Case Studies"
Pediatric Endocrine Case Studies Case 1: History: A 17 year old white male who was referred to you for evaluation of breast enlargement over the last 2 years. He states that he is in good health. He has been shaving only once a week and he also was late in developing facial hair. His father is 46 years of age and he started shaving at 14 years of age. Physical Examination: tall looking young male with fine, sparse facial hair. He was embarrassed and somewhat withdrawn during the physical examination. Weight – 190 lbs (about 97th %) Height – 71” (95th %) His upper to lower segment ratio 0.85. Vital signs – Normal He has moderate bilateral gynecomastia, however there is no nipple discharge. Pubic hair is Tanner IV with feminine distribution. Stretched penile length was 10 cm and his testicular volume is 8 ml on both sides. The testicles feel firm in consistency and somewhat atrophic. Rectal examination shows a small prostate gland. Remainder of the PE was unremarkable Based on the PE: 1.What diagnosis is most likely? a. Kallmann Syndrome b. Klinefelter Syndrome c. Pubertal Gynecomastia c. Testicular Tumor 2. Which Endocrine profile will be most consistent with the diagnosis? a. Low TSH, high prolactin, low testosterone b. Low FSH, low LH and low testosterone c. Increase alpha feto protein, positive Beta HCG, low testosterone d. High FSH, High LH, low to low normal testosterone level e. None of the above 3 Most probable chromosomal Karyotype associated with this Syndrome? a. 47 XYY b. 46 XY c. 47 XXY d. 45 XO e. 45XO/46XY Lab result: Patient had FSH – 80 mIU/ml LH – 78 mIU/ml Testosterone – 180 ng/dL Normal Thyroid function and Chromosomal Karyotype 47 XXY Discussion: Case # 2 History: This is a 9 year old girl that was brought to you because of short stature. She was a product of a full term, normal delivery. Her birth weight was 2,800 grams, birth length was 19 ½ ″. At birth the dorsum of her hands and feet were swollen. She was born in a small county hospital. At 4 years of age she had Pyelonephritis and a renal sonogram demonstrated horseshoe kidney on the left side. At an early age she had frequent middle ear infections. She also has multiple moles on her skin. She is doing well at school except for math. Physical Examination: Height – 115 cm (<-3.5 STD) Weight – 31 kg (50th %) She has a low hairline at the base of the neck. She has no sign of puberty and has moderate Cubitus Vulgus BP: 125/85 1.What is the most likely diagnosis based on history and physical examination: a. Mixed gonadal Dysgenesis b. Growth and Thyroid hormone deficiency c. Turner Syndrome d. Testicular Feminization Syndrome Lab: FSH – 70 mIU/ml, LH – 35 mIU/ml, Bone age – 8 years, Free T4 - 8.5 ng/dL (N 5-11) TSH - 3.9 mIU/ml, Thyroid peroxidase antibody 1:640 ( N <40) 2.What is the most likely karyotype in this patient? a. 45 XO/46 XX b. 46 XX c. 45 XO/46 XY d. 45 XO 3. Turner Syndrome has been associated with all the following except: a. Autoimmune Thyroiditis b. Ulcerative Colitis c. Diabetes mellitus d. Mental retardation epilepsy e. Short Stature 4.Choose the correct group: a Turner Syndrome b. Noonan’s Syndrome c. Both d. Neither 1. GU anomalies 2. Congenital Heart Disease 3. Mental Retardation 4. Short Stature 5. May be familial 6. Common Cardiac defect, Pulmonary Stenosis 7. Common Cardiac defect, Coaratation of Aorta Discuss the endocrine and non-endocrine problem associated with this condition. Discuss the basic difference between Turner and Noonan’s Syndrome Case #3 Thyroid Case Study History: A 17 y.o. Caucasion male was seen in your office for a routine sports physical examination. He is otherwise healthy with no complaints and no past history of any significant medical disease. During your PE of the neck you palpated a nodule, most likely rising from left lobe of thyroid gland. The size of the nodule is 2 X 1.5 cm and moves with swallowing. There has been no concern of lymph gland enlargement. The nodule is firm in consistency. No increase in local temperature and it is non cystic. 1 What will be most appropriate question that you should ask regarding this patient’s condition? 2 What is the differential diagnosis of this nodule? 3 What test would you do to make your diagnosis? Discussion of Thyroid Nodule, Appropriate Test and Evaluation. Case #4 History: A 10 year old girl has been followed for hypothyroidism for 2 years. She is being treated with L-Thyroxine .075 mg daily and has been enthyroid at all follow-up visits. At this visit she looks well, feels well and her physical examination is normal. Her thyroid function studies are as follows: T4 16 mg/DL and TSH 20MIM/ML. 1. Your next step in the evaluation would be: a. Obtain a free T4 level. b. Do a thyroid ultrasound. c. Repeat the T4 and TSH. d. Obtain a thyroid radionuclide scan. 2. What is your differential diagnosis of this child’s problem? Case #5 History: A 16 y.o. female was seen in the adolescent clinic with the complaint of excessive sweating, lack of sleep at night, 2 lbs of weight loss, nervousness of about 10 – 12 days duration. Prior to this visit, her mother called you and shared her concerns about the patient possibly using drugs and she was also concerned the child might be pregnant and, according to the mother, “hanging out with bad company”. 1. What specific question will you ask to get more pertinent information in this case? 2. What family history would you like to know? 3. What Physical Examination is most pertinent to this case? 4. What lab test will you order? 5. Discuss the possible etiology of the problem after the lab finding. 6. What test will you do to confirm your suspicion or diagnosis? Discussion: Case # 6 History: A 4 y.o. female child presented to you at the clinic with growth failure. The mother states that over the period of the past one year, she has not grown much. The patient also looks somewhat puffy, lacks energy and sleeps a lot both during the day and night. She also has complains of intermittent constipation. What further questions would you be asking related to this case? Physical Examination: She is somewhat pale, sitting on mom’s lap quietly, her face is somewhat puffy. Weight is at the 25%, Height is <3rd %, BP 90/50, Pulse 70/min. Neck is supple, no masses or thyroid enlargement appreciated Examination of the mouth does reveal a mass under the surface of the tongue, which is pushing the tongue posteriorly and upward. The size is about 2.5 X 2.8 cm. It is somewhat firm in consistency and the mass is non-tender. 1. Discussion of diagnosis of the mass on the floor of the mouth. 2. What pertinent laboratory test and diagnostic study will you order? 3. What is the final diagnosis? 4. How will you manage this patient? Case # 7 Problem: You got a call from the State lab around 4 PM on Thursday. Lab personnel are concerned about the thyroid-screening test on one of your newborn babies, who you have examined at the newborn nursery. The baby’s total T4 is 6.5ug/dL (normal 8.5 – 20.5), and the TSH 155 mIU/ml (<10). The baby is now 11 days old. 1. What steps will you take now after the phone call? 2. What pertinent question will you be asking this mother about this baby? 3. When would you like to see this baby? 4. What particular finding will you pay attention to when you do the physical examination? 5. What lab test will you order after your examination? 6. What is your diagnosis? 7. What further test can you order to confirm your diagnosis? 8. Discuss the etiology of this condition and long term follow up. Case # 8 Problem: Hypertension and Virilization of a 9 year old girl. History: A 9 year old girl is referred to you for evaluation of high blood pressure and pubic hair development. She has otherwise been healthy. Pubic and axillary hair was noted around 6 years of age. Her high BP was discovered during a routine PE. There is no family history of hypertension or early puberty. Physical Examination: Tall muscular looking girl with scattered acne over her face. Weight is at the 90th %. Height is above 97th %. (Height age is 13 years) BP is 130/100, and the repeat is 150/110 in both arms. Very similar BP’s have been recorded by the primary care physician as well. Neurological examination is normal. Breast is Tanner I. Pubic hair is Tanner IV. There are scattered axillary hairs. External genital examination shows enlargement of the clitoris (5cm in length). Pubic hair as described before. No estrogenic effect on the genitalia. Other physical examination is normal. No masses palpated. 1. What is your differential diagnosis? 2. What work up would you propose to establish your diagnosis in this case? 3. Discussion and Management Case # 9 History: This is a 10 day old infant was transferred to your hospital from a community hospital with a problem of poor feeding, vomiting and lethargy. The baby was 3200 grams at birth. The mother’s pregnancy was uneventful. Mother was not on any medication during pregnancy. A newborn physical examination by the family physician noted that there was labia-scrotal fusion. Phallus is 2 cm and uretheral opening was at the base of the phallus. No gonads were palpable. Baby was thought to have hypospadias and undescended testicles and was sent home on the 3rd day of hospitalization to be seen by a Urologist at one month of age. Physical Examination: Baby looked sick and lethargic. The skin color is mottled and the emergency room physician said this baby most likely has sepsis. External genital examination as described above. Temperature 96º taken rectally. Pulse – somewhat irregular 100/min. BP – 60/40 1. What is your differential diagnosis? 2. What lab test would you order? 3. What is the immediate priority of the management of this patient? 4. What is the differential diagnosis and the final diagnosis? 5. Discussion: Case # 10 Problem: A 6 year old male child presented to the emergency room with the complaint of severe muscle cramps involving the hands and feet and occasionally the back also. According to the mother he is having fatigue and tingling and numbness of his lips and extremities off and on for a year. As you are examining this patient, he was noted to have laryngospasm and a severe shaking spell, which looked like a seizure. He has otherwise been healthy with no other hospitalizations or surgery. The family history is negative for any endocrine or metabolic diseases. 1. What will be the pertinent physical examination and findings in this case? 2. Discuss the differential diagnosis. 3. What lab test will you order to establish the diagnosis? 4. Discussion of differential diagnosis, basic defects in this condition and other associated findings. Case # 11 Problem: A 10 month old African American male infant was referred to you for evaluation for failure to thrive. The baby was a product of a full term normal delivery. At birth he weighed 7 lbs 14 oz. (50th %) and his length was 20” (50th %). At the present time the height is less than the 5th % and weight is at 10th %. The mother is a nurse who has been breast-feeding this baby with minimal solid food. Physical Examination: Baby is not sitting or supporting his weight, and is crying all the time as if he is hungry. Both his knee joints appear to be somewhat swollen. Apart from that his physical examination is unremarkable. 1. What pertinent question should you ask to suspect your diagnosis? 2. What will be the differential diagnosis in this case? 3. What will be the key laboratory test you will order? 4. Discuss the pathological prevention and treatment of this condition. Multiple Question Choice on Children with Diabetes 1. The incidence of Type I diabetes mellitus in the U.S. population is approximately a. 1 in 100 b. 1 in 400 c. 1 in 1000 d. 1 in 10,000 e. 1 in 15,000 2. An 8 y.o. male child presented to the ER with polyuria, polydipsia, weight loss and blood sugar of 500. What % of insulin producing cell (beta cell) is destroyed at this time to manifest the symptom? a. About 25 % b. Approximately 50 % c. Approximately 60% d. Above 80% 3. Two weeks after discharge of a 4 year old diabetic patient, with new onset diabetes, the grandmother called in your office with the complaint of frequent low blood sugar reactions for the last 3 – 4 days. Grandmother has decreased the insulin dose significantly at the present time the child is on a very minimal dose of insulin and is still having low blood sugar. Which of the following statements is applicable in this patient? a. Patient most likely had transient diabetes, and may not need insulin in the future. b. Patient has entered honeymoon phase. c. Patient has developed hypothyroidism therefore requiring less insulin. d. Patient may have developed adrenal insufficiency 4. A typical blood glucose and electrolyte panel seen in a patient with Type I diabetes who presents with DKA is as follows: a. Blood glucose > 400, serum sodium 150 mEq/ml, serum potassium 3.0, chloride 115 and CO2 <10 b. Blood glucose > 400, serum sodium132 , potassium 5.2, chloride 98 and CO2 <10. c. Blood glucose of more than 300, serum sodium 142, potassium 3.0, CO2 19, d. Blood glucose of more than 1,000, serum sodium 152, potassium 3.5, Chloride 110, CO2 15. 5. A 7 year old child with new onset Type I diabetes is admitted to PICU with severe diabetic ketoacidosis. Six hours of treatment on IV fluid and insulin, the patient suddenly becomes incoherent, complaining of severe headache, drowsiness, pulse rate of 68/min. and irregular respiration. Physical findings shows unequal pupillary reflex. The most likely cause of this changing condition is a. Severe hypoglycemia b. Renal failure c. Myocardial infarction d. Cerebral edema e. Pulmonary embolism 6. True or False Type I DM is 7 – 10 times more frequently found in individuals that have DR3/DR4 alleles in HLAs.