A 9-year-old with untreated type 1 diabetes mellitus presents with diabetic ketoacidosis. In addition to absolute insulin deficiency, the metabolic decompensation, including accelerated lipolysis and ketogenesis, is primarily driven by the excess of which group of hormones?
A 5-week-old infant, born small for gestational age, presents with hyperglycemia and dehydration requiring insulin therapy. Genetic testing is ordered due to the early age of onset. Pathogenic variants in which of the following genes would most strongly suggest the potential to successfully transition this infant from insulin to an oral sulfonylurea agent?
A 3-week-old infant with a 46,XY karyotype presents with female external genitalia and a salt-wasting crisis (hyponatremia, hyperkalemia, hypotension). An adrenocorticotropic hormone stimulation test shows low to absent levels of all steroid hormones, including pregnenolone, cortisol, aldosterone, and androgens. An adrenal ultrasound shows massively enlarged adrenal glands. What is the most likely diagnosis?
A 13-year-old African American female is brought to the clinic for the development of pubic hair and breast budding. Her mother is concerned about the timing of puberty. You recall that while the age of onset varies by ethnicity, the sequence of pubertal events is generally consistent. What is the initial physical sign of puberty in the majority of females?
A 2-year-old boy is evaluated for pubic hair development and penile enlargement that started at age 1. There is a family history of early puberty in his paternal grandfather. Laboratory tests reveal a pubertal testosterone level but a prepubertal Luteinizing Hormone (LH) level that does not increase after a Gonadotropin-releasing hormone (GnRH) agonist stimulation test. What is the most likely genetic cause of this patient’s condition?
A 10-year-old female presents in severe diabetic ketoacidosis. Her initial laboratory values include a serum sodium of 130 mEq/L and a glucose of 800 mg/dL. After 4 hours of intravenous fluids and insulin, her glucose is 500 mg/dL and her serum sodium is now 128 mEq/L. This change in sodium is most concerning for?
A 15-year-old female with Graves disease is admitted to the intensive care unit with hyperthermia at 104°F (40°C), severe agitation, and tachycardia of 160 bpm. A diagnosis of thyroid storm is made. In addition to supportive care and antithyroid drugs, which medication is indicated to block the peripheral conversion of T4 to T3?
A 5-year-old girl with rapidly progressive central precocious puberty is being treated with depot leuprolide. Her growth rate has normalized, menses have ceased, and breast development has stabilized. However, her parents note that her pubic hair has continued to slowly progress. What is the most likely explanation for the persistent pubic hair development?
A 15-year-old female presents with a 3-year history of progressive hirsutism, irregular menses and chronic fatigue. On examination, she has moderate acne and mild hypertension. Laboratory studies show elevated serum cortisol and androstenedione, which are not suppressed by high-dose dexamethasone. However, she has no cushingoid features like central obesity or striae, and her growth has been normal. A pathogenic variant in which of the following genes would best explain this entire clinical and biochemical picture?
A 16-year-old female presents with a 1.8 cm palpable nodule in her right thyroid lobe. Her serum thyrotropin (TSH) is normal. A neck ultrasound is performed, which describes the nodule as solid, hypoechoic, with irregular margins and microcalcifications. What is the next most appropriate step?
