Quickfire Case Studies Flashcards
What is the primary diagnosis for a patient presenting with elevated 17-hydroxyprogesterone levels and symptoms such as virilization, early puberty, or ambiguous genitalia in females?
Congenital Adrenal Hyperplasia (CAH), specifically 21-hydroxylase deficiency, which is the most common form. It leads to cortisol and aldosterone deficiency, causing the adrenal glands to produce excess androgen, resulting in symptoms like virilization.
What is the primary diagnosis for a patient presenting with central obesity, buffalo hump, moon face, and elevated cortisol levels in the 24-hour urinary free cortisol test?
Cushing’s Syndrome
What is the primary diagnosis for a patient presenting with fatigue, weight loss, hyperpigmentation, and low cortisol and aldosterone levels, with high ACTH?
Addison’s Disease
What is the primary diagnosis for a patient presenting with enlarged hands, coarse facial features, and elevated IGF-1 levels?
Acromegaly
What is the primary diagnosis for a patient presenting with irregular menstrual cycles, elevated testosterone, and ovarian cysts on ultrasound?
PCOS
What is the primary diagnosis for a patient presenting with elevated 17-hydroxyprogesterone levels and symptoms such as virilization, early puberty, or ambiguous genitalia in females?
Congenital Adrenal Hyperplasia (CAH)
What is the primary diagnosis for a patient presenting with galactorrhoea, irregular periods, and elevated prolactin levels?
Hyperprolactinaemia
What is the primary diagnosis for a patient presenting with episodic hypertension, palpitations, and elevated catecholamines in urine and plasma?
Pheochromocytoma
What is the primary diagnosis for a middle-aged man presenting with yellowish papules, elevated triglycerides, and a family history of early coronary heart disease?
Hyperlipidaemia
What is the primary diagnosis for a 45-year-old patient with recurrent epigastric pain, high triglycerides, elevated total cholesterol, and a history of excessive alcohol consumption?
Hypertriglyceridaemia
What is the primary diagnosis for a 38-year-old woman presenting with tendon xanthomata, high LDL cholesterol, and a family history of early cardiovascular disease?
Familial Hypercholesterolaemia)
What is the primary diagnosis for a 48-year-old woman presenting with fatigue, thirst, and elevated triglycerides with a family history of diabetes?
Combined Hyperlipidaemia
What is the primary diagnosis for a patient with lethargy, weight gain, and low levels of multiple pituitary hormones, possibly due to a non-functioning pituitary adenoma?
Hypopituitarism
What is the primary diagnosis for a patient with fatigue, hypoglycaemia, and low cortisol levels, possibly due to an ACTH-secreting pituitary tumour?
Hypopituitarism
What is the primary diagnosis for a patient presenting with galactorrhoea, amenorrhoea, and infertility, along with elevated prolactin levels due to a pituitary adenoma?
Prolactinoma
What is the primary diagnosis for a patient with features like coarse facial features, enlarged hands and feet, headaches, and elevated growth hormone levels due to a pituitary adenoma?
Growth Hormone-Secreting Adenoma (Somatotroph Adenoma - Acromegaly)
What is the primary diagnosis for a patient presenting with hyperthyroidism symptoms (e.g., weight loss, palpitations, tremors) and elevated thyroid-stimulating hormone (TSH) levels due to a pituitary adenoma?
Thyroid-Stimulating Hormone-Secreting Adenoma (Thyrotroph Adenoma - Thyrotropinoma)
What is the primary diagnosis for a patient with signs of Cushing’s syndrome (e.g., central obesity, buffalo hump, moon face) and elevated ACTH levels due to a pituitary adenoma?
Adrenocorticotropic Hormone-Secreting Adenoma (Corticotroph Adenoma - Cushing’s Disease)
