Endocrinology Practice Questions

Q: A patient presents with hands that are developmentally delayed and a short, stocky build. Which of the following is the most likely diagnosis?

Pseudohypoparathyroidism. The clinical presentation described—short, stocky build and developmental skeletal abnormalities—is characteristic of **Albright’s Hereditary Osteodystrophy (AHO)**, the phenotypic manifestation of **Pseudohypoparathyroidism (PHP) Type 1a**. **1. Why Pseudohypoparathyroidism is correct:** PHP is caused by end-organ resistance to Parathyroid Hormone (PTH). Patients typically present with hypocalcemia and hyperphosphatemia despite elevated PTH levels. The AHO phenotype includes a short, stocky habitus, round facies, developmental delay, and **brachydactyly** (specifically shortening of the 4th and 5th metacarpals/metatarsals). This explains the "developmentally delayed hands" and "short, stocky build" mentioned in the question. **2. Why the other options are incorrect:** * **Achondroplastic dwarf:** While these patients have a short build, it is characterized by disproportionate dwarfism (rhizomelic shortening) and a large head with frontal bossing. They do not typically have the biochemical or intellectual delays associated with PHP. * **Down syndrome:** Although associated with short stature and intellectual disability, the classic hand finding is a **simian crease** and clinodactyly, not the specific brachydactyly/stocky build seen in AHO. * **Klinefelter's syndrome:** These patients are typically **tall** with long extremities (eunuchoid habitus), which is the opposite of the "short, stocky" description [1]. **Clinical Pearls for NEET-PG:** * **Archibald’s Sign:** Dimpling over the knuckles of the 4th and 5th metacarpals when making a fist (due to brachydactyly), a classic sign of PHP. * **Pseudopseudohypoparathyroidism (PPHP):** Patients have the AHO phenotype but **normal** biochemical levels (calcium/PTH) because the defect is inherited paternally. * **Genetics:** PHP Type 1a involves a mutation in the **GNAS1 gene**, which encodes the alpha subunit of the Gs protein.

Q: A 20-year-old male patient presents with a chief complaint of abdominal pain. General examination reveals xanthomas present in clusters on the back, buttocks, arms, and legs. On percussion, hepatomegaly and splenomegaly can be appreciated. Blood investigations show decreased LDL levels and normal HDL levels. What is the most probable diagnosis?

Familial Dysbetalipoproteinemia (FDBL) - Type III. ### Explanation **Correct Answer: B. Familial Dysbetalipoproteinemia (FDBL) - Type III** **Why it is correct:** Familial Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) is characterized by a defect in **Apolipoprotein E (ApoE)**, specifically the **E2/E2 isoform**, which leads to impaired clearance of chylomicron remnants and IDL (VLDL remnants). [2] * **Clinical Presentation:** The hallmark sign is **Eruptive Xanthomas** (clusters on buttocks/arms) and pathognomonic **Palmar Xanthomas** (orange-yellow streaks in palmar creases). * **Organomegaly:** Accumulation of remnants in the reticuloendothelial system leads to hepatosplenomegaly. * **Lipid Profile:** Because IDL is not converted to LDL efficiently, **LDL levels are characteristically low or normal**, while total cholesterol and triglycerides are both elevated (often in a 1:1 ratio) [1], [2]. **Why incorrect options are wrong:** * **A. Type I (FCS):** Caused by LPL or ApoC-II deficiency. While it presents with eruptive xanthomas and hepatosplenomegaly, it is characterized by massive chylomicronemia and milky plasma, not specifically low LDL. * **C. Type IV (FHTG):** Characterized by isolated elevation of VLDL [2]. It usually lacks the prominent xanthomas and hepatosplenomegaly seen in this case and typically presents with normal or slightly elevated LDL. * **D. Type IIb (FCHL):** Characterized by **elevated LDL** and VLDL [2]. The question explicitly states LDL is decreased, which rules out Type II. **NEET-PG High-Yield Pearls:** * **ApoE Genotype:** Most patients are homozygous for **ApoE2**. * **Broad Beta Disease:** On electrophoresis, Type III shows a "broad beta band" (accumulation of IDL) [2]. * **Diagnosis:** Look for the "1:1 ratio" of Cholesterol to Triglycerides and low LDL. * **Clinical Sign:** Palmar xanthomas (Xanthoma striatum palmare) are the most specific physical finding for Type III.

Q: All of the following are seen in rickets, except?

Gunstock deformity. **Explanation:** The correct answer is **Gunstock deformity (Cubitus varus)**. This deformity is a classic complication of a **supracondylar fracture of the humerus** (malunion), not a metabolic bone disease. In this condition, the normal carrying angle of the elbow is lost, resulting in a medial deviation of the forearm. **Analysis of Options:** * **Bow legs (Genu varum):** This is a hallmark clinical feature of rickets. Due to vitamin D deficiency, there is a failure of mineralization of the osteoid matrix. When a child starts weight-bearing, the "soft" bones of the lower limbs bend under the body's weight, leading to bowing. * **Pot belly:** This occurs in rickets due to **hypotonia** of the abdominal muscles and the presence of hepatosplenomegaly (often associated with underlying nutritional deficiencies or compensatory mechanisms). * **Craniotabes:** This is often the **earliest sign** of rickets (seen in infants <6 months). It is characterized by the softening of the skull bones (occipital and parietal), which give a "ping-pong ball" sensation when pressed. **NEET-PG High-Yield Pearls:** 1. **Rachitic Rosary:** Palpable enlargement of the costochondral junctions (rounded, unlike the sharp "scorbutic rosary" seen in Scurvy). 2. **Harrison’s Sulcus:** A horizontal groove along the lower border of the thorax corresponding to the insertion of the diaphragm. 3. **Radiological Sign:** The earliest radiological sign of rickets is the **fading/loss of the provisional zone of calcification** at the metaphysis, followed by cupping, splaying, and fraying. 4. **Biochemical Profile:** Low/Normal Calcium, Low Phosphate, and **Elevated Alkaline Phosphatase (ALP)**—the latter is the most sensitive marker for disease activity.

Q: A 21-year-old lady presented with a history of tiredness, weight gain, depression, and excessive somnolence. What will NOT be seen in this patient?

Tachycardia. **Explanation:** The clinical presentation of tiredness, weight gain, depression, and excessive somnolence in a young female is a classic description of **Hypothyroidism** [1]. **Why Tachycardia is the correct answer:** In hypothyroidism, there is a generalized slowing of metabolic processes and a decrease in sympathetic activity. This leads to **Bradycardia** (a slow heart rate) rather than tachycardia. Tachycardia is a hallmark feature of *Hyperthyroidism*, where increased thyroid hormones upregulate beta-adrenergic receptors in the heart [1]. **Analysis of other options:** * **Hypertension:** While it may seem counterintuitive, hypothyroidism often causes **Diastolic Hypertension**. This occurs due to increased systemic vascular resistance and arterial stiffness, despite the low cardiac output. * **Delayed relaxation of tendon reflexes:** Also known as "Woltman’s sign," this is a classic physical finding in hypothyroidism. The slow relaxation phase (pseudomyotonia) is due to delayed calcium reuptake by the sarcoplasmic reticulum in muscles. * **Anemia:** Hypothyroidism is frequently associated with anemia. It can be normocytic (due to decreased erythropoietin), microcytic (due to associated menorrhagia or iron malabsorption), or macrocytic (due to associated Vitamin B12 deficiency in autoimmune cases like Hashimoto’s). **High-Yield Clinical Pearls for NEET-PG:** * **Most common cause:** Hashimoto’s Thyroiditis (look for anti-TPO antibodies). * **Cardiac findings:** Bradycardia, pericardial effusion (low voltage ECG), and muffled heart sounds. * **Dermatological findings:** Non-pitting edema (Myxedema) and loss of the outer one-third of eyebrows (Queen Anne’s sign). * **Metabolic:** Hypercholesterolemia and hyponatremia are common laboratory findings [2].

Q: A 32-year-old woman presents with amenorrhea, galactorrhea, and visual field defects, all of several months duration. Magnetic resonance imaging reveals a hypophyseal mass impinging on the optic chiasm. What is the most likely diagnosis?

Prolactinoma. **Explanation:** The clinical triad of **amenorrhea, galactorrhea, and visual field defects** in a young woman is the classic presentation of a **Prolactinoma**, the most common secretory tubulointerstitial tumor of the pituitary gland [1]. 1. **Why Prolactinoma is correct:** High levels of prolactin (hyperprolactinemia) inhibit the pulsatile release of GnRH, leading to decreased LH/FSH, which causes **amenorrhea** [2]. Prolactin also directly stimulates milk production (**galactorrhea**). As the tumor grows (macroadenoma, >10mm), it compresses the **optic chiasm** located superior to the sella turcica, resulting in **bitemporal hemianopia** [1], [4]. 2. **Why other options are incorrect:** * **Somatotropic adenoma:** Secretes Growth Hormone (GH), leading to acromegaly (enlarged hands/feet, coarse facial features). While it can cause mass effects, it does not typically cause galactorrhea unless it is a mixed-secretory tumor [3]. * **Corticotropic adenoma:** Secretes ACTH, leading to Cushing’s disease (moon face, truncal obesity, striae). These are usually microadenomas and rarely cause visual field defects [4]. * **Craniopharyngioma:** A suprasellar tumor derived from Rathke’s pouch remnants. While it causes visual defects (often pressure from above) and pituitary dysfunction, it is more common in children and does not typically present with the specific endocrine signature of primary galactorrhea. **High-Yield Clinical Pearls for NEET-PG:** * **First-line treatment:** Unlike other pituitary tumors, the primary treatment for Prolactinoma is **Medical** (Dopamine agonists like **Cabergoline** or Bromocriptine), not surgery [1]. * **Hook Effect:** In extremely high prolactin levels, lab assays may show falsely low results; serial dilution is required for diagnosis. * **Visual Defect:** The classic defect is **Bitemporal Hemianopia** (loss of peripheral vision in both eyes) [4].

Question 1

A patient presents with hands that are developmentally delayed and a short, stocky build. Which of the following is the most likely diagnosis?

Accepted Answer

Pseudohypoparathyroidism

Answer

Achondroplastic dwarf

Answer

Down syndrome

Answer

Klinefelter's syndrome

Question 2

A 20-year-old male patient presents with a chief complaint of abdominal pain. General examination reveals xanthomas present in clusters on the back, buttocks, arms, and legs. On percussion, hepatomegaly and splenomegaly can be appreciated. Blood investigations show decreased LDL levels and normal HDL levels. What is the most probable diagnosis?

Accepted Answer

Familial Dysbetalipoproteinemia (FDBL) - Type III

Answer

Familial Chylomicronemia Syndrome (FCS) - Type I

Answer

Familial Hypertriglyceridemia (FHTG) - Type IV

Answer

Familial Combined Hyperlipidemia (FCHL) - Type IIb

Question 3

An obese NIDDM patient presents with a Fasting Blood Sugar (FBS) of 180 mg% and Postprandial Blood Sugar (PPBS) of 260 mg%. What is the appropriate management?

Accepted Answer

Diet therapy and exercise

Answer

Glibenclamide

Answer

Diet therapy, exercise, and Metformin

Answer

Chlorpropamide

Question 4

A 60-year-old woman presents to the emergency room in a coma with a temperature of 32.2°C (90°F), bradycardia, an enlarged thyroid gland, diffuse hyporeflexia, and a BP of 100/60. Which of the following is the best next step in management?

Accepted Answer

Obtain T4 and TSH; begin intravenous thyroid hormone and glucocorticoid.

Answer

Await results of T4 and TSH.

Answer

Begin rapid rewarming.

Answer

Obtain CT scan of the head.

Question 5

A 45-year-old woman complains of right upper quadrant abdominal pain, weight loss, dry mouth, increased urine production, and foul-smelling fatty stools. She has a recent history of mild diabetes mellitus. Abdominal ultrasound examination reveals gallstones and a solitary 1.5-cm mass in the pancreas. Which of the following hormones would most likely be elevated in the blood of this patient?

Accepted Answer

Somatostatin

Answer

Calcitonin

Answer

Gastrin

Answer

Insulin

Question 6

All of the following are seen in rickets, except?

Accepted Answer

Gunstock deformity

Answer

Bow legs

Answer

Pot belly

Answer

Cranio tabes

Question 7

A 36-year-old female, asymptomatic but with raised 24-hour urinary cortisol levels and raised ACTH, shows suppression in a high-dose dexamethasone suppression test. MRI of the head reveals no enlargement of the pituitary gland. What should be the next step in this case?

Accepted Answer

Inferior petrosal sinus venous sampling

Answer

MRI to assess the adrenals

Answer

CT of the chest

Answer

Corticotropin-releasing hormone (CRH) levels

Question 8

Thyrotoxicosis not associated with hyperthyroidism is caused by all EXCEPT?

Accepted Answer

TSH-secreting pituitary adenoma

Answer

Factitious thyrotoxicosis

Answer

Granulomatous thyroiditis

Answer

Struma ovarii

Question 9

A 21-year-old lady presented with a history of tiredness, weight gain, depression, and excessive somnolence. What will NOT be seen in this patient?

Accepted Answer

Tachycardia

Answer

Hypertension

Answer

Delayed relaxation of tendon reflexes

Answer

Anemia

Question 10

A 32-year-old woman presents with amenorrhea, galactorrhea, and visual field defects, all of several months duration. Magnetic resonance imaging reveals a hypophyseal mass impinging on the optic chiasm. What is the most likely diagnosis?

Accepted Answer

Prolactinoma

Answer

Somatotropic adenoma

Answer

Corticotropic adenoma

Answer

Craniopharyngioma

Endocrinology — MCQs

Endocrinology — MCQs

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