Endocrinology Practice Questions

Q: Among the following, which is a feature of testicular feminization syndrome?

High testosterone levels. High testosterone levels - Individuals with testicular feminization syndrome (also known as androgen insensitivity syndrome) have testes that produce normal to high levels of testosterone. [1] - However, due to a lack of functional androgen receptors, the body cannot respond to this testosterone, leading to feminization. [1] XX pattern - Testicular feminization syndrome is characterized by a 46,XY karyotype, meaning individuals have male chromosomes. - The XX pattern refers to female chromosomal makeup, which is not present in this syndrome. Commonly reared as male - Due to their female external phenotype and development, individuals with testicular feminization syndrome are almost invariably reared as females. - Their condition is often diagnosed when they present with primary amenorrhea or lack of pubertal feminization. Well formed female internal genitalia - Individuals with this syndrome have undescended testes but lack a uterus and fallopian tubes because the testes produce Müllerian Inhibiting Substance (MIS), which causes regression of Müllerian structures. - They typically have a shortened or blind-ended vagina but no other internal female reproductive organs.

Q: Which of the following statements about 21-Hydroxylase deficiency is false?

It leads to male pseudohermaphroditism.. ***It leads to male pseudohermaphroditism.*** - **21-Hydroxylase deficiency** does not lead to male pseudohermaphroditism; instead, it causes **virilization in females** (female pseudohermaphroditism) due to increased androgen production. - Males with 21-hydroxylase deficiency typically present with **salt-wasting crises** or **premature pubarche**, but their internal and external genitalia are normal. *It is the most common cause of congenital adrenal hyperplasia.* - This statement is **true**. **21-hydroxylase deficiency** accounts for approximately 90-95% of all cases of congenital adrenal hyperplasia (CAH) [1]. - Its prevalence and significant role in cortisol and aldosterone synthesis pathways make it the predominant form of the disorder [1]. *It is inherited in an autosomal recessive manner.* - This statement is **true**. 21-hydroxylase deficiency is caused by mutations in the **CYP21A2 gene**, which is inherited in an **autosomal recessive pattern**. - Both parents must be carriers for a child to be affected, with each child having a 25% chance of inheriting the disorder. *It leads to female pseudohermaphroditism.* - This statement is **true**. In affected females, the deficiency of 21-hydroxylase shunts steroid precursors towards the **androgen pathway**, leading to excess adrenal androgens. - This excess androgen exposure *in utero* causes **virilization** of external genitalia, resulting in varying degrees of **ambiguous genitalia** (female pseudohermaphroditism).

Q: What is the most common cause of thyroiditis?

Hashimoto's Thyroiditis. ***Hashimoto's Thyroiditis*** - **Hashimoto's thyroiditis** is the most common cause of thyroiditis, characterized by **autoimmune destruction** of the thyroid gland. - It often leads to **hypothyroidism** and is associated with elevated antithyroid antibodies (anti-TPO, anti-Tg). [1] *Riedl' s Thyroiditis* - This is a rare condition characterized by a **fibrous and painless** infiltration of the thyroid gland. - It does not represent the most common cause of thyroiditis and typically presents differently. *Viral thyroiditis* - This form of thyroiditis may occur following a **viral infection** (e.g., mumps) but is not as prevalent as Hashimoto's. - Symptoms are often acute and resolve quickly, differing from the chronic nature of Hashimoto's. *Subacute Thyroiditis* - Subacute thyroiditis, often post-viral, typically causes a **transient** inflammation of the thyroid. [1] - While it can cause significant pain and thyroid hormone fluctuations, it is less common than Hashimoto's thyroiditis.

Q: Which of the following is the initial investigation of choice for a patient presenting with a solitary nodule of the thyroid?

FNAC. ***FNAC*** - **Fine needle aspiration cytology (FNAC)** is the most important initial investigation for a solitary thyroid nodule to determine if it is benign or malignant. [1] - It offers a highly accurate and minimally invasive method for **cytological analysis** to guide further management. *Thyroid function test* - While important for assessing **thyroid hormone levels** and diagnosing hyper or hypothyroidism, it does not directly evaluate the **malignant potential** of a nodule. [1] - Normal thyroid function does **not rule out malignancy** within a nodule. *Radionuclide scan* - A **radionuclide scan** is useful for assessing the **functional status** of a nodule (hot or cold). [1] - However, non-functional (**cold**) nodules are more suspicious for malignancy, but the scan doesn't provide **histological diagnosis**. *MRI* - **MRI** provides detailed anatomical imaging of the thyroid and surrounding structures but is generally not the **initial diagnostic test of choice** for evaluating a solitary nodule. [1] - It is typically reserved for assessing **nodule extension** or **lymph node involvement** once malignancy is suspected or confirmed. [1]

Q: Foot ulcers in diabetes are due to all except which of the following?

Hypoglycemia. ***Hypoglycemia*** - **Hypoglycemia** refers to abnormally low blood glucose levels and is typically managed by consuming glucose. - It does not directly cause foot ulcers but is a complication of diabetes management [2]. *Neuropathy* - **Diabetic neuropathy** leads to loss of protective sensation, making patients unaware of minor injuries or pressure points on their feet [1]. - This lack of sensation makes the foot vulnerable to repeated trauma and ulceration [2], [3]. *Microangiopathy* - **Microangiopathy** in diabetes affects small blood vessels, impairing blood flow to the skin and peripheral tissues of the feet. - Reduced blood supply compromises tissue healing and increases susceptibility to infection, contributing to ulcer formation [4]. *Macroangiopathy* - **Macroangiopathy** involves large blood vessels, leading to **peripheral artery disease** which reduces blood flow to the feet [1]. - Poor circulation impedes wound healing and increases the risk of infection, making ulcers more likely and harder to treat [3].

Q: What is the most common cause of hypothyroidism in pregnancy?

Autoimmune thyroiditis. ***Autoimmune thyroiditis*** - **Hashimoto's thyroiditis** is the most common autoimmune cause of hypothyroidism, and it is also the leading cause of hypothyroidism in pregnant women. - This condition involves the immune system attacking the thyroid gland, leading to reduced production of **thyroid hormones**. *Nutritional* - **Iodine deficiency** is a nutritional cause of hypothyroidism, but it is less common in areas with adequate iodine intake and fortification programs. - While iodine is crucial for thyroid hormone synthesis, **autoimmune destruction** of the thyroid gland is generally a more prevalent cause of deficiency in pregnant women in developed countries. *Irradiation* - Hypothyroidism due to **radiation exposure** to the neck is a potential cause, but it is typically linked to prior therapeutic interventions for cancers. - This is not a common cause of hypothyroidism in the general pregnant population unless there's a history of such treatment. *Anti thyroid drugs ie iatrogenic* - **Antithyroid drugs** are used to treat hyperthyroidism and can indeed cause iatrogenic (treatment-induced) hypothyroidism. - However, this would only be relevant in pregnant women who were being treated for hyperthyroidism, and it is not the most common underlying cause of a de novo presentation of hypothyroidism during pregnancy.

Q: What is the best screening test for pheochromocytoma?

Urinary metanephrine. ***Urinary metanephrine*** - **Urinary fractionated metanephrines** (metanephrine and normetanephrine) are catabolites of catecholamines and are now considered the most sensitive and specific screening test for **pheochromocytoma**. - The test involves collecting a **24-hour urine sample** to measure their levels, as their excretion is more constant than that of parent catecholamines. *Urinary VMA estimation* - **Vanillylmandelic acid (VMA)** is a metabolite of catecholamines, but its measurement in urine is generally **less sensitive** and specific than metanephrine measurement for screening pheochromocytoma. - While it can be elevated in pheochromocytoma, there are **more accurate and reliable tests** available. *Serum catecholamine estimation* - **Plasma free metanephrines** are often considered the most sensitive test, but measurement of **serum (or plasma) catecholamines** (epinephrine, norepinephrine, dopamine) can be highly variable due to their pulsatile release and short half-lives. - Levels can be significantly affected by **stress, exercise, and diet**, leading to false positives or negatives, making it less reliable for initial screening than metanephrines. *Clonidine suppression test* - The **clonidine suppression test** is a **confirmatory test**, not a screening test, used when there is biochemical evidence suggestive of pheochromocytoma, but the diagnosis is unclear [1]. - It helps differentiate between essential hypertension with elevated catecholamines and hypertension caused by pheochromocytoma, as clonidine suppresses neurogenically mediated catecholamine release but not release from a tumor [1].

Q: Hirsutism is seen in all except:

Hypothyroidism. Hypothyroidism - Hypothyroidism is a state of insufficient thyroid hormone production, which typically leads to dry skin, brittle hair, and hair loss (alopecia), not hirsutism [1]. - Hirsutism is characterized by excessive male-pattern hair growth in women, which is primarily driven by elevated androgens, a hormonal imbalance not directly caused by hypothyroidism. Acromegaly - Acromegaly is a hormonal disorder resulting from excessive growth hormone (GH) and insulin-like growth factor 1 (IGF-1) production, primarily from a pituitary tumor. - Patients with acromegaly may experience hirsutism due to increased IGF-1 stimulating androgen production and increased sensitivity of hair follicles to androgens. Arrhenoblastoma - An arrhenoblastoma is a rare ovarian tumor that produces androgens (male hormones). - The elevated androgen levels lead to virilization, a common feature of which is hirsutism, along with clitoromegaly and voice deepening [2]. PCOD - Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by hormonal imbalances, including elevated androgen levels [2]. - Hirsutism is one of the primary diagnostic criteria and a frequent complaint in women with PCOS, driven by the increased androgen production from the ovaries and adrenal glands [2].

Q: All of the following are seen in MEN 2B except which of the following?

Hyperparathyroidism. ***Hyperparathyroidism*** - **Hyperparathyroidism** is a characteristic feature of **MEN 1** and **MEN 2A**, but it is typically **absent in MEN 2B**. - MEN 2B is primarily associated with **RET gene mutations** that do not commonly lead to parathyroid gland hyperplasia or adenomas. *Neuromas* - **Mucosal neuromas**, particularly in the lips, tongue, and gastrointestinal tract, are a **hallmark feature of MEN 2B**. - These benign tumors are a key diagnostic clue for this syndrome. *Medullary carcinoma thyroid* - **Medullary thyroid carcinoma (MTC)** is a **nearly universal and aggressive component of MEN 2B**, arising from parafollicular C-cells. - It is often the presenting feature and requires early detection and thyroidectomy due to its high metastatic potential. *Pheochromocytoma* - **Pheochromocytoma**, a tumor of the adrenal medulla, occurs in approximately 50-70% of individuals with **MEN 2B**. - It can cause severe hypertension and is an important component of the syndrome that needs to be screened for due to its potential for life-threatening hypertensive crises.

Question 1

Among the following, which is a feature of testicular feminization syndrome?

Accepted Answer

High testosterone levels

Answer

XX pattern

Answer

Commonly reared as male

Answer

Well formed female internal genitalia

Question 2

Which of the following statements about 21-Hydroxylase deficiency is false?

Accepted Answer

It leads to male pseudohermaphroditism.

Answer

It leads to female pseudohermaphroditism.

Answer

It is the most common cause of congenital adrenal hyperplasia.

Answer

It is inherited in an autosomal recessive manner.

Question 3

What is the most common cause of thyroiditis?

Accepted Answer

Hashimoto's Thyroiditis

Answer

Reidel's Thyroiditis

Answer

Subacute Thyroiditis

Answer

Viral Thyroiditis

Question 4

Which of the following statements is true regarding primary hyperparathyroidism?

Accepted Answer

Adenoma is the most common cause of primary hyperparathyroidism.

Answer

Elevated serum calcium is a key diagnostic criterion.

Answer

Surgery is indicated for symptomatic patients or those with significant biochemical abnormalities.

Answer

Parathyroid carcinoma is the most common cause of primary hyperparathyroidism.

Question 5

Which of the following is the initial investigation of choice for a patient presenting with a solitary nodule of the thyroid?

Accepted Answer

FNAC

Answer

Thyroid function test

Answer

Radionuclide scan

Answer

MRI

Question 6

Foot ulcers in diabetes are due to all except which of the following?

Accepted Answer

Hypoglycemia

Answer

Microangiopathy

Answer

Macroangiopathy

Answer

Neuropathy

Question 7

What is the most common cause of hypothyroidism in pregnancy?

Accepted Answer

Autoimmune thyroiditis

Answer

Nutritional

Answer

Irradiation

Answer

Anti thyroid drugs ie iatrogenic

Question 8

What is the best screening test for pheochromocytoma?

Accepted Answer

Urinary metanephrine

Answer

Clonidine suppression test

Answer

Serum catecholamine estimation

Answer

Urinary VMA estimation

Question 9

Hirsutism is seen in all except:

Accepted Answer

Hypothyroidism

Answer

Acromegaly

Answer

Arrhenoblastoma

Answer

PCOD

Question 10

All of the following are seen in MEN 2B except which of the following?

Accepted Answer

Hyperparathyroidism

Answer

Neuromas

Answer

Pheochromocytoma

Answer

Medullary carcinoma thyroid

Endocrinology — MCQs

Endocrinology — MCQs

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