Endocrinology Practice Questions

Q: A 30-year-old male with NIDDM has a blood pressure of 150/90 mmHg and persistent albuminuria on urine examination. What is the most appropriate line of treatment?

Administer lisinopril and restrict sodium intake. ### Explanation The patient presents with **Diabetic Nephropathy**, characterized by persistent albuminuria and hypertension (150/90 mmHg). In patients with diabetes and albuminuria, the primary goal is to slow the progression to End-Stage Renal Disease (ESRD). **Why Option C is Correct:** * **ACE Inhibitors (e.g., Lisinopril):** These are the drugs of choice for diabetic patients with albuminuria. They provide a **renoprotective effect** beyond blood pressure control by causing preferential vasodilation of the **efferent arteriole**. This reduces intraglomerular capillary pressure and decreases the leakage of albumin [1]. * **Sodium Restriction:** Reducing salt intake is essential as it enhances the antiproteinuric and antihypertensive effects of ACE inhibitors. **Why Other Options are Incorrect:** * **Option A & B:** These represent a "wait and watch" approach. Diabetic nephropathy is a progressive condition; failing to intervene pharmacologically when albuminuria and hypertension are present leads to rapid decline in GFR [1]. * **Option D:** While sodium restriction is beneficial, it is insufficient as a monotherapy. It does not address the hemodynamic changes in the glomerulus that ACE inhibitors specifically target. **NEET-PG High-Yield Pearls:** 1. **First Sign:** The earliest clinical sign of diabetic nephropathy is **Microalbuminuria** (30–300 mg/day) [4]. 2. **Drug of Choice:** ACE Inhibitors or ARBs are preferred even if the patient is normotensive but has albuminuria [1]. 3. **Pathology:** The hallmark histological finding is **Kimmelstiel-Wilson (KW) nodules** (nodular glomerulosclerosis) [2]. 4. **Target BP:** According to most guidelines (ADA/KDIGO), the target BP for diabetic patients with chronic kidney disease is **<130/80 mmHg** [3].

Q: Which of the following hormone productions is noted in Cushing's Syndrome?

Increase production of cortisol. **Explanation:** **Cushing’s Syndrome** is a clinical state resulting from chronic exposure to excessive levels of glucocorticoids [3]. The hallmark of this condition is the **increased production of cortisol**, regardless of the underlying cause (e.g., pituitary adenoma, adrenal tumor, or ectopic ACTH production) [4]. Cortisol is a steroid hormone produced by the *zona fasciculata* of the adrenal cortex. Its overproduction leads to the classic constellation of symptoms including central obesity, moon facies, buffalo hump, and purple striae [2]. **Analysis of Options:** * **Option A (Incorrect):** Decreased production of cortisol is characteristic of **Addison’s Disease** (Primary Adrenal Insufficiency), which presents with hyperpigmentation, hypotension, and weight loss. * **Option C (Incorrect):** Excessive production of epinephrine (and norepinephrine) is the defining feature of **Pheochromocytoma**, a tumor of the adrenal medulla or sympathetic ganglia, presenting with episodic hypertension, palpitations, and diaphoresis [1]. * **Option D (Incorrect):** Excessive production of vasopressin (ADH) leads to **SIADH** (Syndrome of Inappropriate Antidiuretic Hormone), characterized by hyponatremia and concentrated urine, often associated with small cell lung cancer. **High-Yield NEET-PG Pearls:** * **Cushing’s Disease vs. Syndrome:** Cushing’s *Disease* specifically refers to a pituitary adenoma secreting ACTH [2]. Cushing’s *Syndrome* is the broad term for hypercortisolism from any source. * **Screening Tests:** The most sensitive initial tests are the **24-hour urinary free cortisol**, the **Overnight Dexamethasone Suppression Test (ODST)**, and late-night salivary cortisol [5]. * **Pseudo-Cushing’s:** Conditions like chronic alcoholism and severe depression can mimic the biochemical findings of Cushing’s syndrome.

Q: All of the following familial syndromes are associated with the development of pheochromocytomas except?

Prader-Willi syndrome. **Explanation:** The correct answer is **Prader-Willi syndrome (D)**. Pheochromocytomas are catecholamine-secreting tumors of the adrenal medulla. While most cases are sporadic, approximately 30-40% are associated with hereditary germline mutations. [2] **Why Prader-Willi syndrome is the correct answer:** Prader-Willi syndrome is a genetic disorder caused by the loss of function of specific genes on **chromosome 15** (paternal imprinting). It is clinically characterized by hyperphagia leading to obesity, intellectual disability, and hypogonadotropic hypogonadism. [1], [3] It has **no association** with the development of pheochromocytomas or paragangliomas. **Why the other options are incorrect:** * **MEN IIA & IIB:** Both Multiple Endocrine Neoplasia Type 2A and 2B are caused by mutations in the **RET proto-oncogene**. Pheochromocytoma occurs in approximately 50% of these patients (usually bilateral and multicentric). * **Von Hippel-Lindau (VHL) syndrome:** Caused by a mutation in the **VHL tumor suppressor gene** (Chromosome 3). It is a major cause of familial pheochromocytoma (Type 2 VHL), often presenting at a young age. [3] **High-Yield Clinical Pearls for NEET-PG:** * **Rule of 10s (Traditional):** 10% are bilateral, 10% are extra-adrenal (paragangliomas), 10% are malignant, and 10% occur in children. *Note: The "10% familial" rule is now outdated, as genetic causes are closer to 35-40%.* [2] * **Neurofibromatosis Type 1 (NF1):** Another key syndrome associated with pheochromocytoma (though less common than in MEN2 or VHL). * **SDH Mutations:** Mutations in Succinate Dehydrogenase (SDHB, SDHD) are high-yield causes of familial paraganglioma syndromes. [2] * **Diagnosis:** The most sensitive initial screening test is **plasma free metanephrines**.

Q: HNF-1b gene defect is seen in which type of MODY?

MODY 5. **Explanation:** Maturity-Onset Diabetes of the Young (MODY) is a group of monogenic disorders characterized by non-insulin-dependent diabetes occurring typically before age 25, inherited in an autosomal dominant pattern [1]. **Correct Option: D (MODY 5)** MODY 5 is caused by a mutation in the **HNF-1β (Hepatocyte Nuclear Factor-1 beta)** gene. This subtype is unique because it is often referred to as the **"Renal Cysts and Diabetes (RCAD) syndrome."** Unlike other forms of MODY, it involves multi-organ developmental anomalies, most notably renal cysts, urogenital tract abnormalities (like bicornuate uterus), and pancreatic atrophy. **Incorrect Options:** * **MODY 2 (Option A):** Caused by a defect in the **Glucokinase (GCK)** gene. It typically presents as mild, stable fasting hyperglycemia that rarely requires treatment and is not associated with complications. * **MODY 3 (Option B):** Caused by a defect in the **HNF-1α** gene. This is the **most common** form of MODY worldwide. It is characterized by a low renal threshold for glucose (glycosuria) and extreme sensitivity to Sulfonylureas. * **MODY 4 (Option C):** Caused by a defect in the **IPF-1 (Insulin Promoter Factor-1)** gene, also known as PDX1. It is a rare form involving impaired beta-cell development. **High-Yield Clinical Pearls for NEET-PG:** * **Most Common MODY:** MODY 3 (HNF-1α). * **Most Common in Pregnancy:** MODY 2 (GCK). * **Drug of Choice:** Sulfonylureas are the first-line treatment for MODY 1 and MODY 3. * **Key Diagnostic Clue for MODY 5:** Presence of renal anomalies (cysts) or genitourinary malformations alongside diabetes.

Q: Which of the following is NOT a feature of Cushing syndrome?

Leukopenia. **Explanation:** The correct answer is **Leukopenia**. In Cushing syndrome (hypercortisolism), glucocorticoids actually cause **Leukocytosis** (an increase in white blood cell count), specifically due to **neutrophilia**. This occurs because steroids decrease the adherence of neutrophils to the vascular endothelium, causing them to move from the "marginal pool" into the "circulating pool" (demargination). **Analysis of Options:** * **A. Hypercoagulability:** Glucocorticoids increase the levels of clotting factors (like Factor VIII and von Willebrand factor) and decrease fibrinolytic activity. This places patients at a high risk for venous thromboembolism (VTE). * **B. Eosinopenia:** Glucocorticoids lead to the sequestration of eosinophils in the spleen and lungs, resulting in a decreased peripheral eosinophil count. They also cause **lymphopenia** and **monocytopenia**. * **C. Hyperpigmentation of knuckles:** This is a classic feature of **ACTH-dependent** Cushing syndrome (e.g., Cushing disease or Ectopic ACTH) [1]. Excess ACTH acts on melanocortin-1 receptors due to its structural similarity to MSH (Melanocyte-Stimulating Hormone), leading to hyperpigmentation, particularly in skin folds, scars, and knuckles. **Clinical Pearls for NEET-PG:** * **The "Cushingoid" Hemogram:** Look for Neutrophilia, Lymphopenia, and Eosinopenia. * **Hypokalemic Metabolic Alkalosis:** Often seen in ectopic ACTH secretion due to the mineralocorticoid effects of high cortisol levels. * **Screening Test of Choice:** 24-hour urinary free cortisol or Low-Dose Dexamethasone Suppression Test (LDDST) [2], [3]. * **Proximal Myopathy:** Cortisol causes muscle wasting (proteolysis), leading to difficulty climbing stairs or rising from a chair, while distal muscles are relatively spared [1].

Q: A 12-year-old girl presents with mood and emotional liability and a golden brown discoloration in Descemet's membrane. What is the most likely diagnosis?

Wilson's disease. ### Explanation **Correct Answer: B. Wilson’s Disease** The clinical presentation of **mood/emotional lability** (psychiatric symptoms) combined with a **golden-brown discoloration in Descemet’s membrane** is pathognomonic for Wilson’s disease [1]. This ocular finding is known as the **Kayser-Fleischer (KF) ring**, caused by the deposition of copper in the cornea. Wilson’s disease is an autosomal recessive disorder involving a mutation in the **ATP7B gene** on chromosome 13. This leads to impaired biliary copper excretion and deficient incorporation of copper into ceruloplasmin. The resulting copper overload primarily affects the **liver** (cirrhosis), the **brain** (basal ganglia degeneration leading to movement disorders or psychiatric issues), and the **eyes** [1]. **Why the other options are incorrect:** * **A. Fabry’s disease:** An X-linked lysosomal storage disorder characterized by angiokeratomas, peripheral neuropathy, and renal failure. The classic ocular finding is **cornea verticillata** (vortex keratopathy), not KF rings. * **C. Glycogen storage disease:** These typically present with hypoglycemia, hepatomegaly, and growth retardation. They do not cause copper deposition in the cornea. * **D. Acute rheumatic fever:** Presents with carditis, polyarthritis, chorea, and erythema marginatum. It does not involve corneal pigment changes. **NEET-PG High-Yield Pearls:** * **Best Initial Test:** Serum Ceruloplasmin (decreased; 250 µg/g dry weight). * **Most Sensitive Screening:** 24-hour urinary copper excretion (>100 µg/day). * **MRI Brain Finding:** "Face of the Giant Panda" sign in the midbrain. * **Treatment:** Chelating agents like **D-Penicillamine** (first-line) or Trientine; Zinc is used for maintenance.

Question 1

A 30-year-old male with NIDDM has a blood pressure of 150/90 mmHg and persistent albuminuria on urine examination. What is the most appropriate line of treatment?

Accepted Answer

Administer lisinopril and restrict sodium intake

Answer

No treatment

Answer

Regular urine examination and blood sugar monitoring

Answer

Restrict sodium intake only

Question 2

Which of the following hormone productions is noted in Cushing's Syndrome?

Accepted Answer

Increase production of cortisol

Answer

Decrease production of cortisol

Answer

Excessive production of epinephrine

Answer

Excessive production of vasopressin

Question 3

Gynaecomastia may be seen in patients with all of the following conditions except:

Accepted Answer

Turner's syndrome

Answer

Cimetidine therapy

Answer

Cirrhosis of the liver

Answer

Klinefelter's syndrome

Question 4

All of the following familial syndromes are associated with the development of pheochromocytomas except?

Accepted Answer

Prader-Willi syndrome

Answer

MEN II A

Answer

Von Hippel-Lindau syndrome

Answer

MEN Type II B

Question 5

HNF-1b gene defect is seen in which type of MODY?

Accepted Answer

MODY 5

Answer

MODY 2

Answer

MODY 3

Answer

MODY 4

Question 6

Which of the following is NOT a feature of Cushing syndrome?

Accepted Answer

Leukopenia

Answer

Hypercoagulability

Answer

Eosinopenia

Answer

Hyperpigmentation of knuckles

Question 7

What is the differentiating feature between ectopic ACTH secretion and Cushing syndrome?

Accepted Answer

Hypokalemic alkalosis

Answer

Clinical features of Cushing syndrome

Answer

Hyperpigmentation

Answer

Hypertension

Question 8

Hypoglycemia is seen in which of the following conditions?

Accepted Answer

Hypopituitarism

Answer

Acromegaly

Answer

Cushing syndrome

Answer

Hypothyroidism

Question 9

A 12-year-old girl presents with mood and emotional liability and a golden brown discoloration in Descemet's membrane. What is the most likely diagnosis?

Accepted Answer

Wilson's disease

Answer

Fabry's disease

Answer

Glycogen storage disease

Answer

Acute rheumatic fever

Question 10

Which investigation is useful for detecting extra-adrenal pheochromocytoma?

Accepted Answer

T2-weighted magnetic resonance imaging (MRI) with gadolinium contrast

Answer

Ultrasound (USG)

Answer

Contrast-enhanced computed tomography (CCT)

Answer

Metaiodobenzylguanidine (MIBG) scan

Endocrinology — MCQs

Endocrinology — MCQs

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