Endocrinology

Question 1

Where are glucocorticoid hormones produced?

Answer 1

Zona fasciculata of the adrenal gland.

Question 2

What signwould you expect to be positive if your blood calcium level was 7.1 mg/dl?

Answer 2

trousseau’s sign
hypocalcemia
normal Ca: 8 - 10

Question 3

Werner-Morrison syndrome is triggered by the production of:

Answer 3

Clinical manifestations of a vipoma (vasoactive intestinal peptide) can give rise to Werner-Morrison syndrome or pancreatic cholera, which causes excessive diarrhea, hypokalemia, and achlorhydria.

Question 4

pioglitazone has been shown to be effective in preventing the progression and development of NAFLD in subjects with diabetes and pre-diabetes.

Answer 4

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Question 5

The dawn phenomenon is

Answer 5

hyperglycemia in the early morning hours due to nocturnal secretion of GH during sleep.

Question 6

Carla, 45 years old, undergoes a brain CT scan following a road accident. The examination reveals the presence of a pituitary incidentaloma. What is the most frequent histotype and what type of treatment is proposed in the first instance?

Answer 6

Prolactinoma is the most frequent histotype of pituitary adenoma and is the only one in which medical therapy with dopaminergic agonists is first proposed because the response to this treatment

Question 7

What is Conn’s syndrome

Answer 7

a cause of primary hyperaldosteronism, is due to primary hyperproduction of aldosterone in the adrenal glands due to an adrenal adenoma.
Elevated aldosterone causes Na+ and water retention, and increased K+ excretion.
Renin is low in Conn’s syndrome due to the raised Na+ and plasma volume, both of which, when low, act as stimuli for renin secretion.
You would also expect the patient to be hypertensive. Note, however, that in this scenario, the patient is normokalaemic. This highlights the fact that > 20% of patients with hyperaldosteronism have normal potassium levels, so one should not rely on a low K+ for a diagnosis.

Question 8

Addison’s disease results from adrenal gland failure and glucocorticoid and mineralocorticoid deficiency. This leads to Na+ loss and K+ retention.

Answer 8

Addison’s disease refers to adrenal insufficiency, commonly caused by autoimmune disease.
SX: weight loss, depression, anorexia, and gi upset.
Due to increased ACTH levels, patients have tanned skin and pigmented palmar creases. Investigations show hyponatremia, hyperkalemia, and hypoglycemia.
A short ACTH stimulation test confirms the diagnosis. Emergency treatment involves IV hydrocortisone and fluids with long-term management using oral cortisol and mineralocorticoids. Dose adjustments are based on individual needs, particularly during stress or illness.

Question 9

What percentage of cases of phaeochromocytoma are due to a malignant cause?

Answer 9

Phaeochromocytomas are catecholamine-secreting tumours which, although rare, may cause life-threatening secondary hypertension. The tumour may be malignant in approximately 10% of cases.

Question 10

The most frequent cause of primary hyperaldosteronism is

Answer 10

bilateral adrenal hyperplasia

Question 11

Which of the following clinical signs of Cushing’s syndrome is not attributable to excess glucocorticoids?

Answer 11

Hyperpigmentation in Cushing’s syndrome is due to excess ACTH acting on MSH receptors

Question 12

An excess of parathyroid hormone causes:

Answer 12

hypercalcemia
hypophosphatemia

Question 13

In which of the listed pathologies do TARTs appear (Testicular adrenal rest tumors)

Answer 13

Adrenogenital syndrome

Question 14

In patients with suspected acromegaly, serum IGF-1 concentration should be measured, not GH

Answer 14

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compared to GH, IGF-1 levels have fewer fluctuations and can be used to monitor the response to therapy. Usually basal GH levels are not used for diagnostics but the glucose load test (OGTT) is generally used

Question 15

tumors of endocrine origin can manifest itself with the sudden appearance of increased hair in androgen-sensitive areas in a woman?

Answer 15

Adrenal carcinoma is a rare disease (incidence 0.7-2/million/year) with peak incidence between 40 and 60 years; in about half of the cases the tumor manifests itself clinically due to the presence of hormonal hypersecretion (70% cortisol/30% androgens); mass effect is the reason for presentation in most cases not associated with hormonal production

Question 16

phaeochromocytoma, a neuroendocrine tumour that secretes adrenaline and noradrenaline, leading to sympathetic stimulation SX: tachycardia, HTN, anxiety, diaphoresis, and weight loss.
DX: elevated catecholamines and metanephrines in plasma or 24-hour urine.
Even though surgery is necessary, these patients are at high risk due to potential severe tachycardia and hypertension. Thus, sympathetic control through alpha-adrenoceptor blockers, such as phenoxybenzamine or doxazosin, is crucial. Isolated beta-blocker usage may result in refractory hypertension.

Answer 16

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Question 17

What signalling pathway does growth hormone (GH) use?

Answer 17

A tyrosine kinase receptor that uses the JAK/STAT pathway

Question 18

SIADH is a diagnosis of exclusion, so other causes of hyponatraemia, particularly diuretic therapy, adrenal failure and hypothyroidism, should be ruled out. However, in this patient, euvolaemia with hyponatraemia and low serum osmolality, combined with inappropriately concentrated urine (high urinary sodium and urine osmolality >100 mOsm/l), suggest SIADH.

Answer 18

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Question 19

MEN 1
MEN 2A
MEN 2B

Answer 19

MEN 1 is associated with parathyroid, pancreatic, pancreatic, islet cell, and pituitary tumours. (Pituitary tumors, hyperparathyroidism and Zollinger-Ellison syndrome)

MEN 2a is characterised by thyroid medullary carcinoma, pheochromocytoma, and parathyroid tumours.

MEN 2b is associated with thyroid medullary carcinoma, pheochromocytoma, and mucocutaneous ganglioneuromas.

Question 20

Pegvisomant is:

Answer 20

GH receptor antagonist. Pegvisomant is a growth hormone (GH) receptor antagonist and is used in the treatment of acromegaly.

Question 21

In cases of primary hyperparathyroidism, the indications for surgery are the following: the finding of calcemia > 1mg/dl compared to the upper reference limit; the presence of osteoporosis, documented by a T-score < - 2.5 at the lumbar/femoral level; evidence of renal insufficiency, calciuria > 400mg/24h and age under 50 years. It is sufficient for only one condition to be met to indicate surgery. In the proposed case, although it is an asymptomatic disease, the young age of the patient and the finding of increased calciuria require parathyroidectomy (correct option D)

Answer 21

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Question 22

his patient suffers from adult-onset diabetes in young people (MODY), which represents less than 5% of cases of diabetes mellitus and is linked to specific genetic defects that involve islet cells and are inherited in an autosomal dominant manner. In this patient with MODY 2 there is an inactivating mutation of glucokinase that increases the beta cell threshold for insulin release and the hyperglycemia is modest.

Answer 22

A young 25-year-old woman carries out a routine examination to check her health status. Her body mass index is 22. Laboratory studies show that her fasting blood sugar is 120 mg/dL. Urinalysis shows modest glycosuria, but no ketonuria or proteinuria. No autoantibodies to insulin are detectable. Her father presented the same symptoms at the age of 20. The gene coding for which of the following proteins is most likely to be mutated?

Question 23

T/F DM does not cause gynecomastia

Answer 23

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Question 24

Which of the following is the enzyme most frequently deficient in congenital adrenal hyperplasia?

Answer 24

21 hydroxylase deficiency

Question 25

Metformin is the drug of first choice for the treatment of type 2 diabetes mellitus

Answer 25

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Question 26

There are three acute metabolic complications of DM: hypoglycemia, diabetic ketoacidosis and hyperosmolar (non-ketotic) hyperglycemia. Non-ketotic hyperosmolar hyperglycemia is typical of DM2, for which it does not require the use of insulin once the acute situation has resolved, unlike ketoacidosis, which is associated with DM1, where insulin treatment is instead required once the patient has been discharged (answer B false). It is generated because insulin is unable to control blood sugar levels, which accumulate and produce a large increase in plasma osmolarity (regular values ​​275-290 mOsm, false D response). Unlike ketoacidosis, there is no accumulation of ketone bodies, so metabolic acidosis (normal or slightly decreased pH) does not usually occur. Kussmaul’s breathing is nothing more than Tachypnea that tries to compensate for metabolic acidosis, so it tends to be present in ketoacidosis, but absent in hyperosmolar coma (false A response). Hyperosmolar coma occurs in the elderly as a consequence of serious processes that overlap with DM2, so the mortality of the condition is very high (around 50%, in relation to the underlying pathology, true C response). Ketoacidosis, on the other hand, has a low mortality (<5%).

Answer 26

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Question 27

Francesco is a 64 year old patient. In his medical history he has arterial hypertension, hypercholesterolemia, heart failure with reduced EF, CRF with GFR equal to 29 ml / min. A check showed HbA1c of 7.5% and fasting blood sugar of 135 mg/dl, repeated after a week and found to be unchanged. Which of the following drugs is most suitable based on Francesco’s clinical history?

Answer 27

Empaglifozin. Over the last few years, the results of clinical intervention studies in diabetic patients with the three drugs of the gliflozine class (EMPAREG-outome, CANVAS, DECLARE-TIMI58) have been presented. In these studies, a clear efficacy of gliflozine was demonstrated on the reduction of major renal and cardiovascular endpoints and in particular on the endpoint of reduction in hospitalizations and mortality due to heart failure. Metformin generally represents the first-line drug, but based on the studies cited, in patients with ASCVD and/or CKD GLP-1 RA and SGLT-2 may be preferred with demonstrated benefit on those complications.

Question 28

The diagnosis of gestational diabetes is made by fasting glycemia greater than or equal to 92 mg/dl, glycemia 1 hour after ingestion of 75 g of glucose greater than or equal to 180 mg/dl or glycemia 2 hours after ingestion of glucose greater than or equal to 153 mg/dl.

Answer 28

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Question 29

Dumping Syndrome is a syndrome resulting from gastric bypass surgery or gastrectomy. Shortly after a meal, the massive arrival of hypertonic and undigested fluid in the duodenum causes fluid withdrawal (relative hypovolemia) and activation of intestinal motility reflexes (diarrhoea, borborygmi, pain). Furthermore, the absence of gastric action determines the arrival of large quantities of carbohydrates in the small intestine shortly after the meal with a
consequent stimulus to the massive release of insulin from the pancreas. Since insulin’s plasma half-life is longer than glucose, symptomatic hypoglycaemic episodes are frequent approximately 2-3 hours after a meal (answer C correct). Insulinoma: neuroendocrine tumor of pancreatic insular origin with the ability to secrete large quantities of insulin and thus cause even severe hypoglycemia, mostly when fasting (wrong answer B). Alcohol abuse: causes hypoglycemia due to inhibition of hepatic gluconeogenesis. Therefore, the deficit in gluconeogenesis can lead to clinical manifestations mainly in the fasting state since during the meal the exogenous sugars make up for the deficit in endogenous synthesis (wrong answer A). Abuse of oral hypoglycemics: cause of hypoglycemia by stimulating the release of excessive quantities of insulin. Secretagogue drugs (sulphonylureas and glinides) bind a receptor called SUR1 (Sulphonyl Urea Receptor 1) on beta cells. This binding induces the closure of the KATP channels to which SUR1 is associated. The closure of the KATP channels causes beta cell depolarization (because the outgoing hyperpolarizing current of K+ ions is lost) and therefore induces insulin degranulation. If the patient is fasting and has not taken exogenous carbohydrates, the release of insulin induced by the hypoglycemic agent can lead to even serious hypoglycemia (wrong answer D).

Answer 29

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Question 30

FNA is nowadays the first test to be performed in the management of thyroid nodule. It can give us four results: benign, malignant, follicular or inconclusive (indeterminate). If we get clearly neoplastic cells, FNA is diagnostic. Subsequent management will depend on the type of cellularity present. It is diagnostic if cellularity with characteristics of papillary, anaplastic or medullary carcinoma is observed (in the case of medullary carcinoma, FNA does not allow us to know whether it is a sporadic or hereditary medullary cancer). If we obtain follicular cells, FNA is conclusive, but not diagnostic because it could be an adenoma or a carcinoma, and the difference will be the invasion of nearby structures or the capsule. This is the case in which scintigraphy must be performed; if the nodule is warm it will be a toxic adenoma and will be treated with surgery or radioiodine. If, however, the nodule is cold, a hemithyroidectomy must be performed in order to perform a histological examination (biopsy); if it invades the capsule it is a follicular carcinoma and the thyroidectomy will need to be completed (it does not require lymphadenectomy since its metastases are haematogenous), while if there is no invasion it is an adenoma, and this has already been treated with hemithyroidectomy. If we do not obtain sufficient cellularity, the sample may be non-useful and appear inconclusive (indeterminate). In the event that there are risk factors to assume that the nodule is malignant, a hemithyroidectomy is carried out in order to carry out a biopsy, while if there are no risk factors, it is necessary to opt for suppressive treatment with levothyroxine and repeat the needle aspiration after a few months.T

Answer 30

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