D-Anger Management
A 2 week old boy born at home with no medical care presents to the ED with a “septic appearance.” He is afebrile, HR 185, BP 50/28 with poor perfusion. EKG shows peaked T-waves.
What is the most likely diagnosis?
What labs should be done immediately?
Congenital adrenal hyperplasia
POC glucose/BMP, cortisol level
A 15 year old girl with type 1 diabetes is hospitalized in the PICU with DKA. Her parents say that she never misses any insulin shots and they think she developed DKA because she ate 3 huge cupcakes for breakfast without taking extra insulin. She has not had any fevers or symptoms of infection.
Were the cupcakes the cause of the DKA?
NO
Most common cause of DKA is insulin omission, however not from one missed rapid acting dose
The most common form of congenital adrenal hyperplasia in the US is due to which enzyme deficiency?
Which adrenal intermediate is elevated and used as a diagnostic test?
Does this condition cause ambiguous genitalia in XX or XY genotypes?
21-hydroxylase deficiency
17-OH progesterone
XX will be virilized
A 9 year old boy is concerned about his short stature. He’s at the 10th percentile for height. His mother is at the 60th and father is 70th percentile for height. His bone age is consistent with a 7 year old. This means he will end up:
A) Taller than 10th percentile B) At the 10th percentile C) Shorter than the 10th percentile
What is the diagnosis?
Taller than the 10th percentile
Constitutional growth delay
MPH = Father's height + (Mother's height + 5in) / 2
You are called to the nursery to see a 3 day old infant male following a seizure. POC glucose is 38 and you notice that he has a microphallus.
What is the most likely diagnosis? Which diagnostic tests need to be sent immediately?
Hypopituitarism --> possible growth hormone deficiency, ACTH deficiency
Insulin or C-peptide, growth hormone, cortisol, beta hydroxybutyrate, serum glucose
A 6 year old female with type 1 diabetes is seen for follow-up. Her father notes her blood glucose levels have been very unpredictable and variable with frequent hypoglycemic episodes. She has not gained any weight in the last year. HbA1c level is 8.0%, similar to her prior visit.
What do you suspect?
What type of evaluation is indicated?
Celiac disease
Celiac screen
A 16 year old boy comes to your office for delayed puberty. He is otherwise healthy. His growth had been normal though his height percentile has declined over the last few years. ROS is negative, though his mother thinks he has chronic nasal congestion as he never seems to be able to smell anything.
What is the likely diagnosis?
Kallman syndrome
A 13 month girl comes to your office because of breast development. Her mother noticed breast buds at 6 months of age and thinks they enlarged a bit initially but now may be getting smaller. She has no other signs of puberty and is growing and developing normally. PE is normal except for 2 cm breast buds bilaterally.
What is the best plan of action at this point?
Reassurance
Mini-puberty at 2-6 months of age
Premature thelarche
A 3 year old girl with CAH comes into the ER with a fever of 104F, cough and lethargy. CXR reveals pneumonia. You start her on antibiotics and IV fluids but she remains tachycardic, hypotensive & poorly perfused. You admit to the PICU and start pressors but hypotension persists.
What should you do?
Why didn’t the pressors work?
Hydrocortisone (stress dose)
Cortisol has a permissive effect on catecholamines responsiveness --> vasopressor-refractory hypotension in adrenal crisis
You have admitted a 12 year old girl in DKA with new onset diabetes. Her initial glucose was 850 and pH 7.15. You start her on fluids and an insulin drip. Six hours later, her glucose is 103 and pH is 7.23.
What is the next step in managing her fluids and insulin drip?
Add dextrose to IV fluids
Discontinue insulin drip when anion gap is closed, NOT when glucose/pH have normalized
A 4 week old female presents to the ED with a seizure. Exam significant for micrognathia, short philtrum, low set ears and a cardiac murmur. Labs are significant for calcium 5.8 and phosphorus 9.3.
What is the most likely diagnosis?
DiGeorge syndrome
CATCH-22 – cardiac defects, abnormal facies, absent thymus, cleft palate, hypocalcemia (due to hypoparathyroidism)
You are seeing an 11 year old boy referred for short stature. PCP ordered a random growth hormone level and it was low at 0.1 (normal >10). He wants to treat with the patient with growth hormone.
Should you? Why or why not?
Do not use a random growth hormone level to diagnose GH deficiency - PULSATILE secretion
Can be used to diagnose GH excess (acromegaly)
Check growth factors (IGF-1, IGF-BP3, or perform a GH stimulation test)
A 17 year old boy comes to the ER with loss of conscious and seizures. His calcium was 12.1, glucose 34, electrolytes within normal limits. When he regains consciousness, he gives a history of recent weight gain and increased appetite with episodes of shaking and anxiety that respond to drinking soda or juice. On exam you note mild galactorrhea.
What is the diagnosis?
MEN-1
Pituitary adenoma, pancreatic tumors, parathyroid hyperplasia
An 18 year old teenager with type 1 diabetes is going away to college and asks you privately if drinking alcohol can affect his glucose levels.
What should you tell him?
Increased risk of hypoglycemia
Alcohol metabolism inhibits gluconeogenesis --> increase in ketone production
You are called by an OB’s office following the delivery of a healthy baby with normal appearing external female genitalia. The OB says the karyotype on amniocentesis was 46XY.
What is the likely diagnosis?
What structures would pelvic US show?
What happens at puberty?
Complete androgen insensitivity syndrome
Absent uterus/female internal structures
Breast development (androgens aromatized to estrogen), no pubic hair/axillary hair (androgen dependent), primary amenorrhea (blind vaginal pouch, no uterus)
You are seeing a 16 year old female for suspected anorexia nervosa. She has lost 20lbs over the last 4 months and her school grades have dropped from As to Ds. She is very thin with HR 122, BP 136/80 and warm well perfused extremities.
What diagnosis do you suspect?
Hyperthyroidism
Hashitoxicosis vs Grave's disease vs toxic adenoma
A 12 year old girl had surgery for craniopharyngioma 6 months ago. She was discharged on no medications. She has had no linear growth since discharge. Her PMD checked TFTs and found TSH 0.2 and FT4 0.3 and started her on thyroid replacement. Three days later, she comes back looking pale and lethargic. POC glucose is 58 and BP is 80/45.
Why did this happen?
ACTH deficiency/adrenal insufficiency
Levothyroxine increases metabolism of cortisol
A 14 year old boy with diabetes comes into the ER with hyperglycemia and ketonuria. He uses an insulin pump for diabetes care. He is not acidotic and appears well. You want to give him insulin.
Should it be given IV, subcutaneously or via his pump?
Subcutaneously
Give SUBQ insulin until can change infusion set/troubleshoot pump issue
Not in DKA, does not need an insulin drip
You are seeing a 4 year old girl in the office who came in 3 months ago with complaint of breast development. Since then, her mother says that her breast development has increased. Labs done at last visit show FSH <0.1, LH <0.1, estrogen 135 (high).
What imaging study should you do next?
On exam she has several café-au-lait spots – what is the most likely diagnosis?
Pelvic ultrasound
McCune Albright Syndrome
Triad of café-au-lait spots, PERIPHERAL precocious puberty (estrogen-secreting ovarian cysts), fibrous dysplasia (bone cysts)
A 7 year old boy presents with concerns for precocious puberty. What exam finding would help differentiate between central versus peripheral precocious puberty?
Testicular enlargement.
Central -> increased gonadotropins -> testicular enlargement
Peripheral precocious puberty is independent of gonadotropins so you do not get testicular enlargement