Rules

2 teams: M-Tu and W-Th (residents pick names) 2 minutes/question 15 seconds to steal if question missed by other team NEGATIVE points for every question missed (including attempted steals) POSITIVE points for every question answered correctly Send score to rachelannnelson@gmail.com

Section 1

Section 2

Section 3

10 20 30 40

10 20 30 40

10 20 30 40

Section 1: 10 Points
You are seeing a baby for the first time. She is only 2 weeks old, she has been growing well, feeding normally and the parents are only concerned about her genitals. Mom thinks her privates are enlarged. Her newborn screening is pending. On genital exam she has clitoromegaly, what appears to be a normal vaginal introitus and there are not gonads palpable on the inguinal area. What is the best course of action at this time?
a) Measure serum 17-OH- progesterone b) Measure electrolytes c) Measure serum 17-OH-pregnenolone d) Measure serum electrolytes and 17-OH-progesterone e) Wait for the newborn screening results

Section 1: 10 Points
You are seeing a baby for the first time. She is only 2 weeks old, she has been growing well, feeding normally and the parents are only concerned about her genitals. Mom thinks her privates are enlarged. Her newborn screening is pending. On genital exam she has clitoromegaly, what appears to be a normal vaginal introitus and there are not gonads palpable on the inguinal area. What is the best course of action at this time?
a) Measure serum 17-OH- progesterone b) Measure electrolytes c) Measure serum 17-OH-pregnenolone

d) Measure serum electrolytes and 17-OH-progesterone

e) Wait for the newborn screening results

Learning Point
THE MOST COMMON CAUSE OF AMBIGUOS GENITALIA AND CLITOROMEGALY IN A NEWBORN IS CAH THE MOST COMMON CAUSE OF CAH IS 21HYDROXYLASE DEFICIENCY
Elevated 17 hydroxyprogesterone Electrolytes if salt wasting: low Na, high K, low glucose

Section 2: 10 Points
A 13 year old male presents to your clinic with complaint of bilateral breast masses that are mildly painful. He stated that he noted knots under his nipples about 3 months ago. He denies any other signs or symptoms. On exam he has 2 by 3 cm developed breast tissue under each nipple. What other important piece of information would allow you to diagnosed him with pubertal gynecomastia?
a) Tanner 2 genital and pubic hair development, testes 4 cc bilaterally b) Tanner 1 genital and pubic hair development, testes 3 cc bilaterally c) Abdominal ultrasound proof of hepatoma d) Tanner 3 genital and pubic hair development, testes 8 cc bilaterally e) Tanner 4 genital and pubic hair, testes 20 cc bilaterally

Section 2: 10 Points
A 13 year old male presents to your clinic with complaint of bilateral breast masses that are mildly painful. He stated that he noted knots under his nipples about 3 months ago. He denies any other signs or symptoms. On exam he has 2 by 3 cm developed breast tissue under each nipple. What other important piece of information would allow you to diagnosed him with pubertal gynecomastia?
a) Tanner 2 genital and pubic hair development, testes 4 cc bilaterally b) Tanner 1 genital and pubic hair development, testes 3 cc bilaterally c) Abdominal ultrasound proof of hepatoma

d) Tanner 3 genital and pubic hair development, testes 8 cc bilaterally

e) Tanner 4 genital and pubic hair, testes 20 cc bilaterally

Learning Point
Gynecomastia is a benign condition in males During puberty, particularly at Tanner 3, there is often a transient relative imbalance between estrogen and testosterone, leading to gynecomastia Usually resolves by age 18 years when adult androgen/estrogen ratios are achieved

Section 3: 10 Points
A 5 year old girl with type 1 diabetes is sick. Her mother calls your office for advice. She states that the child has diarrhea since the day before, with at least 8 watery stools so far. She has a temperature of 100.8F now. She has been drinking well, except for the last 2 hours when she started to vomit. She has not been able to tolerate fluids since the vomiting started. Her capillary glucose is 436 mg/dL now. Her last insulin injection was 2 hours ago, when the glucose was 480 mg/dL. What is the best advice to give to this mother? a) Hold fluids for another hour, because this would allow better oral tolerance b) Check for urine ketones c) Wait 12-24 hours and call again if symptoms persist d) Give another insulin injection now, no fluids e) You will call an antiemetic to her pharmacy, for her to administer to her daughter

Section 3: 10 Points
A 5 year old girl with type 1 diabetes is sick. Her mother calls your office for advice. She states that the child has diarrhea since the day before, with at least 8 watery stools so far. She has a temperature of 100.8F now. She has been drinking well, except for the last 2 hours when she started to vomit. She has not been able to tolerate fluids since the vomiting started. Her capillary glucose is 436 mg/dL now. Her last insulin injection was 2 hours ago, when the glucose was 480 mg/dL. What is the best advice to give to this mother? a) Hold fluids for another hour, because this would allow better oral tolerance b) Check for urine ketones c) Wait 12-24 hours and call again if symptoms persist d) Give another insulin injection now, no fluids e) You will call an antiemetic to her pharmacy, for her to administer to her daughter

Learning Point
DKA precipitating factors
Lack of insulin:
A. B.
A. B.

Absolute (new onset DM) Omission of therapy **

Due to increase in counter-regulatory hormones Use of steroids, cyclosporin, tacrolimus

Illness (infection) and severe stress: Risk is increased in children with

A. B. C. D.
E. F. G.

poor metabolic control or previous episodes of DKA peripubertal adolescent girls children with clinical depression or other psychiatric disorders (including those with eating disorders) children with difficult or unstable family circumstances (e.g., parental abuse) children with limited access to medical services insulin pump therapy (as only rapid- or short-acting insulin is used in pumps, interruption of insulin delivery for any reason rapidly leads to insulin deficiency)

Section 1: 20 Points
Children with ketotic hypoglycemia usually: a) Are obese b) Are hyperinsulinemic c) Have elevated levels of alanine d) Improve as they get older e) Have their symptoms precipitated by a high carbohydrate diet

Section 1: 20 Points
Children with ketotic hypoglycemia usually: a) Are obese b) Are hyperinsulinemic c) Have elevated levels of alanine d) Improve as they get older e) Have their symptoms precipitated by a high carbohydrate diet

Learning Point
Idiopathic ketotic hypoglycemia is the most frequent cause of hypoglycemia in children between 1 and 5 years of age Usually occurs after illness that decrease intake Resolves by age 6 years

Section 2: 20 Points
Congenital hypothyroidism should be included in the differential diagnosis of a newborn with: a) Pulmonary edema b) Seizures c) Prolonged jaundice d) Renal insufficiency e) Severe anemia

Section 2: 20 Points
Congenital hypothyroidism should be included in the differential diagnosis of a newborn with: a) Pulmonary edema b) Seizures c) Prolonged jaundice d) Renal insufficiency e) Severe anemia

Unconjugated hyperbilirrubinemia
Decreased Clearance
A. Crigler-Najjar: type I (AR)- UGT essentially absent; type II (AR)- low UGT activity unconjugated hyperbilirubinemia B. Gilberts: most common. Mutation in promoter region of UGT1A1 gene, so reduced UGT unconjugated hyperbilirubinemia C. OTHER: congenital hypothyroidism

Section 3: 20 Points
Which of the following is NOT a characteristic of type 2 diabetes in adolescents? a) Six month history of polyuria b) Elevated c-peptide c) Obesity d) Acanthosis nigricans e) Positive ICA-512 antibody titer

Section 3: 20 Points
Which of the following is NOT a characteristic of type 2 diabetes in adolescents? a) Six month history of polyuria b) Elevated c-peptide c) Obesity d) Acanthosis nigricans e) Positive ICA-512 antibody titer

Learning Point
TYPE 2 DM is associated with: Family history of type 2 DM BMI above the 95% for age and sex Acanthosis nigricans on exam Ethnicity: American Indian, African American, Asian, or Hispanic/Latino Absence of circulating autoantibodies Associated with history of IUGR, premature adrenarche, polycystic ovary syndrome Antibody negative

Section 1: 30 Points
A 13 year old girl is concerned about her lack of breast development. Her parents are of average height and her height is at the 3rd percentile. Her LH level is 22 mIU/ml (prepubertal range is 0.02-0.3, Tanner 5 is 0.4-11.7). The next appropriate step is:
a) Reassurance and continued observation b) Chromosomal karyotype c) Pelvic ultrasound d) MRI of pituitary and hypothalamus e) Prolactin level

Section 1: 30 Points
A 13 year old girl is concerned about her lack of breast development. Her parents are of average height and her height is at the 3rd percentile. Her LH level is 22 mIU/ml (prepubertal range is 0.02-0.3, Tanner 5 is 0.4-11.7). The next appropriate step is:
a) Reassurance and continued observation b) Chromosomal karyotype c) Pelvic ultrasound d) MRI of pituitary and hypothalamus e) Prolactin level

Learning Point
Delayed puberty in females: no maturation by age 13 Ovarian failure: elevated LH Growth failure: 100% of Turner patients regardless of the karyotype (i.e. mosaiac, 45 X, etc.)

Section 2: 30 Points
A 2-year-old girl presents to the emergency department with what is eventually diagnosed as a hypocalcemic seizure. Administration of oral calcitriol improves her serum calcium concentration. Laboratory testing documents an extremely low parathyroid hormone value. The girl has a history of a cleft palate that was repaired at 6 months of age and an incidental finding of a right-sided aortic arch noted on routine chest radiograph. She is otherwise healthy and doing well developmentally. Of the following, the MOST likely test to confirm her underlying diagnosis is: a) echocardiography b) fluorescence in situ hybridization for a 22q deletion c) magnetic resonance imaging of the brain d) routine karyotype e) ultrasonography of the neck

Section 2: 30 Points
A 2-year-old girl presents to the emergency department with what is eventually diagnosed as a hypocalcemic seizure. Administration of oral calcitriol improves her serum calcium concentration. Laboratory testing documents an extremely low parathyroid hormone value. The girl has a history of a cleft palate that was repaired at 6 months of age and an incidental finding of a right-sided aortic arch noted on routine chest radiograph. She is otherwise healthy and doing well developmentally. Of the following, the MOST likely test to confirm her underlying diagnosis is: a) echocardiography b) fluorescence in situ hybridization for a 22q deletion c) magnetic resonance imaging of the brain d) routine karyotype e) ultrasonography of the neck

Learning Point
HYPOCALCEMIA EVALUATION IN CHILDREN
History Physical Exam Hypocalcemia

Urine Ca

iPTH

Mutation in CaSR

Mg

Phosp

Hypomagnesemia

Hypoparathyroidism

Creatinine

25OHD3

Renal Failure

PseudohypoPTH

Dietary deficiency, malabsorption, anticonvulsants

1,25(OH02D3

Mutation in 1 alpha-hydroxylase

Mutation Vit D receptor

Section 3: 30 Points
A 4-year-old boy who has severe recurrent asthma and an allergy to cockroaches has had poor disease control despite inhaled fluticasone propionate 220 mcg twice a day for the previous 4 months. He most recently required 4 weeks of prednisone at 2 mg/kg per day to manage asthma symptoms and avoid hospitalization. After moving to a new home, his asthma symptoms improved dramatically, and he discontinued both the fluticasone and the prednisone. When he presents today, his mother states that he has not suffered any further asthma exacerbations, but he has developed nausea and severe fatigue. Of the following, the MOST appropriate treatment for this boy is to: a) begin hydrocortisone at 10 mg/m2 per day b) begin hydrocortisone at 50 mg/m2 per day c) restart both fluticasone at 220 mcg/day and prednisone at 2 mg/kg per day d) restart fluticasone at 220 mcg twice a day e) restart prednisone at 5 mg/kg per day

Section 3: 30 Points
A 4-year-old boy who has severe recurrent asthma and an allergy to cockroaches has had poor disease control despite inhaled fluticasone propionate 220 mcg twice a day for the previous 4 months. He most recently required 4 weeks of prednisone at 2 mg/kg per day to manage asthma symptoms and avoid hospitalization. After moving to a new home, his asthma symptoms improved dramatically, and he discontinued both the fluticasone and the prednisone. When he presents today, his mother states that he has not suffered any further asthma exacerbations, but he has developed nausea and severe fatigue. Of the following, the MOST appropriate treatment for this boy is to: a) begin hydrocortisone at 10 mg/m2 per day b) begin hydrocortisone at 50 mg/m2 per day c) restart both fluticasone at 220 mcg/day and prednisone at 2 mg/kg per day d) restart fluticasone at 220 mcg twice a day e) restart prednisone at 5 mg/kg per day

Learning Point
SIGNS AND SYMPTOMS OF ADRENAL INSUFFICIENCY Chronic insufficiency: A. Decreased pubic and axillary hair B. Diarrhea C. Hyperpigmentation D. Low voltage EKG E. Small heart on x-ray F. Weight loss Acute Insufficiency: A. Abdominal pain B. Fever Acute and chronic insufficiency: A. Anorexia B. Apathy and confusion C. Dehydration D. Weakness and fatigue E. Hyperkalemia F. Hypoglycemia G. Hyponatremia H. Hypovolemia, hypotension and tachycardia I. Nausea and vomiting J. Postural hypotension K. Salt craving

Section 1: 40 Points
A 9-year-old boy presents with a 2- to 3-month history of increased urination, intermittent back pain, and constipation. There are no other findings of note on his history, and the only abnormality noted on physical examination is mild hyporeflexia. Among the screening laboratory results are total calcium of 12.1 mg/dL (3.0 mmol/L) and phosphorus of 1.7 mg/dL (0.55 mmol/L). Of the following, the test that is MOST likely to establish the diagnosis is: a) serum alkaline phosphatase b) serum ionized calcium c) serum parathyroid hormone d) serum parathyroid hormone-related protein e) urinary calcium/creatinine ratio

Section 1: 40 Points
A 9-year-old boy presents with a 2- to 3-month history of increased urination, intermittent back pain, and constipation. There are no other findings of note on his history, and the only abnormality noted on physical examination is mild hyporeflexia. Among the screening laboratory results are total calcium of 12.1 mg/dL (3.0 mmol/L) and phosphorus of 1.7 mg/dL (0.55 mmol/L). Of the following, the test that is MOST likely to establish the diagnosis is: a) serum alkaline phosphatase b) serum ionized calcium c) serum parathyroid hormone d) serum parathyroid hormone-related protein e) urinary calcium/creatinine ratio

Learning Point
History Physical Exam Hypercalcemia

Urine Ca

iPTH

Familial hypocalciuric hypercalcemia

25 OHD

Phosp

Primary hyperparathyroidism

Vitamin D intoxication

1,25(OH)2D3

Hypophosphatemia

Intoxication Ectopic production

PTHrP

Neoplasia

Other hypercalcemic factors

Section 2: 40 Points
A 9-year-old girl presents with a 2-month history of diarrhea and weight loss. A thorough review of systems reveals that she has been having difficulty sleeping at night for the past month. On physical examination, her heart rate is 95 beats/min, blood pressure is 121/85 mm Hg, weight is 22 kg, and height is 132 cm. You palpate a firm enlarged thyroid gland without nodules. Laboratory studies reveal a free thyroxine (FT4) value of 2.4 ng/dL (normal, 0.9 to 1.6 ng/dL ) and thyroid-stimulating hormone (TSH) value of less than 0.01 mIU/L (normal, 0.5 to 4.0 mIU/L). Of the following, the next BEST step in the management of this patient is to: a) assess thyroid-stimulating immunoglobulins b) perform I-123 uptake scan c) repeat FT4 and TSH measurements in 1 week d) start methimazole e) start propylthiouracil

Section 2: 40 Points
A 9-year-old girl presents with a 2-month history of diarrhea and weight loss. A thorough review of systems reveals that she has been having difficulty sleeping at night for the past month. On physical examination, her heart rate is 95 beats/min, blood pressure is 121/85 mm Hg, weight is 22 kg, and height is 132 cm. You palpate a firm enlarged thyroid gland without nodules. Laboratory studies reveal a free thyroxine (FT4) value of 2.4 ng/dL (normal, 0.9 to 1.6 ng/dL ) and thyroid-stimulating hormone (TSH) value of less than 0.01 mIU/L (normal, 0.5 to 4.0 mIU/L). Of the following, the next BEST step in the management of this patient is to: a) assess thyroid-stimulating immunoglobulins b) perform I-123 uptake scan c) repeat FT4 and TSH measurements in 1 week d) start methimazole e) start propylthiouracil

Learning Point
Graves can be clinically diagnosed in the presence of eye involvement, goiter, and tachycardia Elevated free T4 and low TSH Thyroid stimulating immunoglobulins Radioactive iodide uptake scan Treatment: Methimazole +/- Beta blockers

Section 3: 40 Points
A 3-month-old male infant presents with poor feeding and occasional vomiting. He has no history of fever, cough, irritability, constipation, or diarrhea. He has approximately 12 wet diapers per day. On physical examination, the afebrile infant has a heart rate of 130 beats/min, respiratory rate of 28 breaths/min, and blood pressure of 94/50 mm Hg. He has tacky mucous membranes and a capillary refill time of 2 seconds; all other findings are normal. Laboratory evaluation reveals: Sodium, 160 mEq/L Potassium, 3.7 mEq/L Bicarbonate, 16 mEq/L Glucose,100 mg/dL Osmolality, 345 mOsm/kg Creatinine, 0.6 mg/dL Of the following, the MOST likely urine specific gravity and urine osmolality for this patient are: a) Urine Specific Gravity = 1.001; Urine Osmolality = 80 mOsm/kg b) Urine Specific Gravity = 1.010; Urine Osmolality = 300 mOsm/kg c) Urine Specific Gravity = 1.015; Urine Osmolality = 400 mOsm/kg d) Urine Specific Gravity = 1.020; Urine Osmolality = 600 mOsm/kg e) Urine Specific Gravity = 1.030; Urine Osmolality = 1,200 mOsm/kg

Section 3: 40 Points
A 3-month-old male infant presents with poor feeding and occasional vomiting. He has no history of fever, cough, irritability, constipation, or diarrhea. He has approximately 12 wet diapers per day. On physical examination, the afebrile infant has a heart rate of 130 beats/min, respiratory rate of 28 breaths/min, and blood pressure of 94/50 mm Hg. He has tacky mucous membranes and a capillary refill time of 2 seconds; all other findings are normal. Laboratory evaluation reveals: Sodium, 160 mEq/L Potassium, 3.7 mEq/L Bicarbonate, 16 mEq/L Glucose,100 mg/dL Osmolality, 345 mOsm/kg Creatinine, 0.6 mg/dL Of the following, the MOST likely urine specific gravity and urine osmolality for this patient are: a) Urine Specific Gravity = 1.001; Urine Osmolality = 80 mOsm/kg b) Urine Specific Gravity = 1.010; Urine Osmolality = 300 mOsm/kg c) Urine Specific Gravity = 1.015; Urine Osmolality = 400 mOsm/kg d) Urine Specific Gravity = 1.020; Urine Osmolality = 600 mOsm/kg e) Urine Specific Gravity = 1.030; Urine Osmolality = 1,200 mOsm/kg

Learning Point
DIABETES INSIPIDUS The most common symptoms are: Polydipsia Polyuria Nocturia & bed-wetting Infants and young children who have DI may have the following signs and symptoms: Unexplained fussiness or inconsolable crying Unusually wet diapers Unexplained fever Dry skin with cool extremities FTT