A 10-year-old child living in a remote, mountainous region with severe iodine deficiency presents with intellectual disability, deaf-mutism, and spasticity in his legs. He has a goiter but is of normal stature for his age and has entered puberty appropriately. Which term best describes his condition?
A 14-year-old boy with a prenatal diagnosis of Klinefelter syndrome (47,XXY) is being followed annually. He entered puberty spontaneously, but over the last year, his testicular growth has ceased. Which pattern of hormone levels is most characteristic for this mid-pubertal stage in his condition?
A 1-year-old female presents with severe short stature, with a length more than 4 standard deviations below the mean. Laboratory studies reveal high resting and stimulated growth hormone (GH) levels, but very low insulin-like growth factor 1 (IGF-1) levels. Genetic testing reveals a pathogenic variant in STAT5b. In addition to severe growth failure, which of the following is a characteristic feature of this specific post-receptor form of GH insensitivity?
A 13-year-old boy presents with a 6-month history of headaches, polyuria, and polydipsia. On examination, his blood pressure is 160/105 mmHg. Initial lab work reveals persistent hypokalemia. If this is due to primary aldosteronism, what would be the expected findings for plasma aldosterone concentration and plasma renin activity?
A 14-year-old obese Hispanic male presents with fatigue and is found to have glycosuria on a routine physical exam. Physical examination is notable for dark pigmentation of the skin creases on the nape of his neck. Which of the following features is most suggestive of type 2 diabetes mellitus over type 1 diabetes mellitus in this patient?
A pediatric endocrinology fellow is reviewing the process of adrenal steroidogenesis for a presentation. While adrenal cortex cells can synthesize cholesterol de novo, the majority of cholesterol used for steroid hormone synthesis is derived from another source. What is the primary source of cholesterol for adrenal cortex hormone formation?
A pediatric resident reviewing the endocrine system notes that several glycoprotein hormones, including Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH), share a common structural component. Which of the following hormones also contains this identical α-subunit?
An 17-year-old female with an 8-year history of type 1 diabetes mellitus presents with recurrent episodes of diabetic ketoacidosis and an HbA1c of 12.5% despite being prescribed an appropriate insulin regimen. Her body mass index is in the low-normal range. Which of the following behaviors is a common, specific issue in this patient population that could explain her poor glycemic control?
A 4-week-old infant is brought to the emergency department for irritability, poor feeding, and a fever of 38.5°C (101.3°F). The parents report the infant has an unusually high number of wet diapers. Laboratory work reveals hypernatremia with a serum osmolality of 310 mOsm/kg H2O and dilute urine with an osmolality of 150 mOsm/kg. A baseline copeptin level is significantly elevated at > 20 pmol/L. What is the most likely diagnosis?
A 14-year-old boy presents to his pediatrician with concern about bilateral, tender breast enlargement that he first noticed 4 months ago. His physical exam is notable for Tanner stage 3 pubic hair, a testicular volume of 8 mL, and a palpable, concentric, fibroglandular mass under each areola. The remainder of his history and physical exam is unremarkable. What is the most appropriate next step in management?