Endocrinology Practice Questions

Q: Delayed puberty is seen in -

All of the options. ***All of the options*** - Delayed puberty can be a symptom of multiple underlying conditions including **hypothyroidism**, **Turner's syndrome**, and **chronic diseases**. - All these conditions can interfere with the normal hormonal and developmental pathways required for timely pubertal onset. *Hypothyroidism* - **Thyroid hormones** are crucial for normal growth and development, including sexual maturation. - Insufficient thyroid hormone levels can lead to a general slowing of metabolic processes and thus **delayed puberty**. *Turner's syndrome* - This is a chromosomal disorder (45,XO) primarily affecting females, characterized by the absence of one X chromosome. - It often results in **gonadal dysgenesis** (poorly developed ovaries), leading to **primary ovarian failure** and a failure to produce sex hormones necessary for puberty. *Chronic disease* - Many chronic illnesses, such as **inflammatory bowel disease**, **cystic fibrosis**, **renal failure**, or **diabetes mellitus**, can cause **delayed puberty**. - This is often due to the overall physiological stress, chronic inflammation, nutritional deficiencies, and altered hormone metabolism associated with long-term illness.

Q: A 1-month old baby present with frequent vomiting and failure to thrive. There are features of moderate dehydration. Blood sodium in 122 mEq/l and potassium is 6.1 mEq/l. The most likely diagnosis is?

21-hydroxylase deficiency. ***21-hydroxylase deficiency*** - This condition presents in infancy with **salt-wasting adrenal crisis** due to impaired cortisol and aldosterone synthesis, leading to **hyponatremia**, **hyperkalemia**, **dehydration**, and **vomiting**. - The deficiency in 21-hydroxylase blocks the synthesis of **aldosterone**, causing sodium loss and potassium retention, consistent with the electrolyte abnormalities. *11β-hydroxylase deficiency* - This deficiency causes an accumulation of **11-deoxycorticosterone (DOC)**, which has mineralocorticoid activity, leading to **hypertension** and **hypokalemia**, rather than hyponatremia and hyperkalemia. - While it can cause virilization, the electrolyte imbalance is distinctly different from the case presented. *Gitelman syndrome* - This is a **renal tubulopathy** characterized by reabsorptive defects in the distal convoluted tubule, leading to **hypokalemia**, **metabolic alkalosis**, **hypomagnesemia**, and **hypocalciuria**. - It would not typically present with severe hyponatremia or hyperkalemia in a neonate with salt wasting. *Bartter syndrome* - This is a **renal tubulopathy** affecting the thick ascending limb of the loop of Henle, resulting in significant salt loss, **hypokalemia**, **metabolic alkalosis**, and **hypercalciuria**. - Like Gitelman syndrome, it is associated with hypokalemia, which contradicts the hyperkalemia seen in the patient.

Q: Adrenarche is the maturation of the adrenal cortex leading to increased androgen production. Adrenarche typically starts at the age of:

7. ***7*** - **Adrenarche** typically begins around **6 to 8 years of age**, with some earlier maturation seen in African American children. - This process involves the maturation of the adrenal cortex, leading to increased production of **adrenal androgens** like DHEA and DHEAS. *8* - While 8 years is within the general range, **7 years of age** is often cited as a more precise average onset for adrenarche. - The onset of adrenarche marks the development of **pubic and axillary hair** (pubarche and axillarche) and **body odor**, preceding gonadarche. *11* - An age of 11 years is generally considered the average onset of **gonadarche** (true puberty), which involves the activation of the hypothalamic-pituitary-gonadal axis. - **Adrenarche** precedes gonadarche by several years and is a separate maturational process of the adrenal glands. *12* - By 12 years of age, most children have already undergone **adrenarche** and are well into the stages of gonadarche, experiencing significant pubertal changes. - This age is typically associated with peak pubertal development, including **growth spurts** and more pronounced secondary sexual characteristics.

Q: A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis

Kallman's syndrome. ***Kallman's syndrome*** - **Kallmann's syndrome** is characterized by **isolated hypogonadotropic hypogonadism**, meaning the hypothalamus fails to produce **GnRH**, leading to low LH and FSH, and consequently low testosterone, causing delayed puberty. - A key distinguishing feature is the association with **anosmia or hyposmia** (impaired sense of smell) due to abnormal migration of olfactory neurons and GnRH-producing neurons. *Klinefelter's syndrome* - This condition is characterized by **primary hypogonadism** (testicular failure) due to an extra X chromosome (47,XXY), leading to **high LH and FSH** in an attempt to stimulate the failing testes. - Although testosterone is low and puberty is delayed, the **elevated gonadotropins** differentiate it from Kallmann's syndrome. *Testicular infection* - An infection like **orchitis** can lead to testicular damage and *primary hypogonadism*, resulting in low testosterone. - However, similar to Klinefelter's, this would typically cause **elevated LH and FSH** due to the lack of negative feedback from the testes. *Androgen Insensitive syndrome* - In **Androgen Insensitivity Syndrome (AIS)**, testosterone levels are typically **normal or even elevated**, but the body's cells are unable to respond to androgens due to defective receptors. - This condition presents with a female phenotype despite a 46,XY karyotype, and **gonadotropin levels (LH and FSH) are usually normal to high**, not decreased.

Q: A 5-year-old girl presents with difficulty breathing. On examination of the oral cavity, a 3 cm mass is found in the midline on the posterior aspect of the tongue. The most likely diagnosis is:

Lingual thyroid. ***Lingual thyroid*** - A lingual thyroid is **ectopic thyroid tissue** located at the base of the tongue, often presenting as a **midline mass**. - Its presence can lead to **obstruction of the airway** or difficulty swallowing, explaining the patient's difficulty breathing. *Foreign body stuck to the tongue* - While a foreign body could cause obstruction, it would typically present with a **sudden onset** and usually has a clear history of ingestion. - A 3 cm mass in the midline is more consistent with a **developmental anomaly** rather than an acutely lodged object. *Lingual tonsil* - The lingual tonsils are normal lymphatic tissue located at the **base of the tongue**; however, they are usually **bilateral and diffuse**, not presenting as a single 3 cm midline mass. - Significant enlargement of a single lingual tonsil to this size causing respiratory distress is **uncommon** without other inflammatory signs. *Dermoid* - A dermoid cyst can appear as a **midline mass** in the oral cavity, but typically it presents as a **soft, doughy, non-transilluminating swelling**. - While it can cause obstructive symptoms if large, a lingual thyroid is a more specific diagnosis for a **vascularized mass** at the base of the tongue in this clinical context.

Q: At what age is delayed puberty diagnosed in girls if they have not developed any secondary sexual characteristics?

13 years. ***Correct: 13 years*** - In girls, **delayed puberty** is diagnosed when there are no signs of **breast development (thelarche) by age 13 years** - This represents the upper limit of normal for the onset of secondary sexual characteristics in girls - Absence of any pubertal development by this age warrants evaluation for underlying causes (e.g., hypogonadism, constitutional delay, chronic illness) - Based on **Tanner staging**, breast development typically begins between ages 8-13 years *Incorrect: 18 years* - This age is well beyond the diagnostic threshold for delayed puberty - By 18 years, puberty should be complete in normal girls - Waiting until this age would delay diagnosis and treatment of potentially reversible causes *Incorrect: 12 years* - 12 years is still within the **normal range for onset of puberty** in girls - Many girls normally begin pubertal development at or after age 12 - Diagnosing delayed puberty at this age would be premature and lead to unnecessary investigations *Incorrect: 16 years* - 16 years is the diagnostic age specifically for **absence of menarche** (primary amenorrhea), not for absence of all secondary sexual characteristics - If secondary sexual characteristics are absent by age 16, this indicates severe delay that should have been investigated years earlier (by age 13)

Q: Epiphyseal dysgenesis is a feature of

Hypothyroidism. ***Hypothyroidism*** - **Epiphyseal dysgenesis** (dysplastic or stippled epiphyses) is a classic radiographic feature of **congenital hypothyroidism**, particularly in infants and children [2]. - Reduced thyroid hormone levels impair normal bone development, leading to delayed bone maturation and abnormal epiphyseal ossification [2]. *Hypoparathyroidism* - This condition involves insufficient **parathyroid hormone (PTH)**, leading to **hypocalcemia** and **hyperphosphatemia** [1]. - Its effects on bone primarily involve increased bone density and sometimes basal ganglia calcification, not epiphyseal dysgenesis [1]. *Hyperparathyroidism* - Characterized by excessive **PTH**, which causes **hypercalcemia** and bone resorption. - Bone features include **osteitis fibrosa cystica** (brown tumors, subperiosteal resorption), which is distinct from epiphyseal dysgenesis. *Hyperthyroidism* - This condition is marked by excessive thyroid hormone, which can lead to **accelerated bone turnover** and increased risk of osteoporosis. - Unlike hypothyroidism, it does not cause epiphyseal dysgenesis; instead, it can lead to premature skeletal maturation.

Q: A 6-month-old infant shows delayed social smile, poor head control, and hypotonia. TSH is elevated, and T4 is low. What is the most likely diagnosis?

Congenital hypothyroidism. ***Congenital hypothyroidism*** - The combination of **developmental delay** (delayed social smile, poor head control), **hypotonia**, and **abnormal thyroid function tests** (elevated TSH, low T4) is highly suggestive of congenital hypothyroidism. - Early diagnosis and treatment are crucial to prevent **intellectual disability** and severe developmental impairments. *Down syndrome* - While infants with Down syndrome often present with **hypotonia** and developmental delay, the characteristic **facial features** (e.g., epicanthal folds, upward slanting palpebral fissures) and a **normal thyroid profile** would typically differentiate it. - Down syndrome is a **chromosomal disorder** (trisomy 21) not primarily characterized by thyroid dysfunction, although **hypothyroidism** can be a co-occurrence. *Prader-Willi syndrome* - This syndrome is characterized by **severe hypotonia** and feeding difficulties in infancy, followed by childhood-onset **hyperphagia** and obesity. - It is a **genetic disorder** affecting chromosome 15, and while developmental delay and hypotonia are present, routine thyroid function tests are usually normal. *Cerebral palsy* - Cerebral palsy is a group of **motor disorders** caused by non-progressive brain damage that occurs during fetal development or early in life, leading to **abnormal muscle tone**, posture, and movement. - While it can manifest with hypotonia and developmental delay, cerebral palsy is not associated with **elevated TSH and low T4**.

Q: A 3 week neonate with ambiguous genitalia presented with Na+ 127 meq/L, K+ 7.2 meq/L with BP 52/24 mm Hg and was managed with IV fluids. What is the next step of management?

Hydrocortisone administration. ***Hydrocortisone administration*** - The combination of **ambiguous genitalia**, low **sodium**, high **potassium**, and **hypotension** in a neonate strongly suggests **congenital adrenal hyperplasia (CAH)** due to 21-hydroxylase deficiency, leading to salt-wasting adrenal crisis. - **Hydrocortisone** is crucial for replacing deficient **cortisol** and addressing the underlying adrenal insufficiency, which is the definitive treatment for this endocrine emergency. - Cortisol replacement helps restore hemodynamic stability and, along with fluid resuscitation, addresses the electrolyte imbalance. *Calcium gluconate* - While **hyperkalemia** is present at 7.2 meq/L, which is severe and potentially life-threatening, **calcium gluconate** provides only **cardiac membrane stabilization** without treating the underlying cause. - In clinical practice, calcium gluconate may be given for immediate cardiac protection in severe hyperkalemia, but the **definitive management** of CAH-related adrenal crisis requires **hormonal replacement**. - The question asks for the next step after IV fluids are initiated, and hydrocortisone addresses the root cause of the metabolic derangements. *Broad spectrum antibiotics* - There is no clinical indication in the stem to suggest a bacterial infection that would warrant **broad-spectrum antibiotics**. - Although critically ill neonates may sometimes receive empiric antibiotics, the presentation clearly points to an **endocrine emergency** rather than sepsis. *Spironolactone* - **Spironolactone** is an **aldosterone antagonist** and a **potassium-sparing diuretic**. - Administering it would worsen the already existing **hyperkalemia** and **hyponatremia**, making it absolutely contraindicated in this clinical scenario.

Question 1

Delayed puberty is seen in -

Accepted Answer

All of the options

Answer

Hypothyroidism

Answer

Turner's syndrome

Answer

Chronic disease

Question 2

Congenital adrenal hyperplasia most commonly presents as

Accepted Answer

46,XX DSD with virilization

Answer

46,XY DSD

Answer

Ovotesticular DSD

Answer

46,XY DSD with undervirilization

Question 3

A 1-month old baby present with frequent vomiting and failure to thrive. There are features of moderate dehydration. Blood sodium in 122 mEq/l and potassium is 6.1 mEq/l. The most likely diagnosis is?

Accepted Answer

21-hydroxylase deficiency

Answer

11β-hydroxylase deficiency

Answer

Gitelman syndrome

Answer

Bartter syndrome

Question 4

Adrenarche is the maturation of the adrenal cortex leading to increased androgen production. Adrenarche typically starts at the age of:

Accepted Answer

7

Answer

8

Answer

11

Answer

12

Question 5

A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis

Accepted Answer

Kallman's syndrome

Answer

Klinefelter's syndrome

Answer

Testicular infection

Answer

Androgen Insensitivity Syndrome

Question 6

A 5-year-old girl presents with difficulty breathing. On examination of the oral cavity, a 3 cm mass is found in the midline on the posterior aspect of the tongue. The most likely diagnosis is:

Accepted Answer

Lingual thyroid

Answer

Foreign body stuck to the tongue

Answer

Lingual tonsil

Answer

Dermoid

Question 7

At what age is delayed puberty diagnosed in girls if they have not developed any secondary sexual characteristics?

Accepted Answer

13 years

Answer

18 years

Answer

12 years

Answer

16 years

Question 8

Epiphyseal dysgenesis is a feature of

Accepted Answer

Hypothyroidism

Answer

Hypoparathyroidism

Answer

Hyperparathyroidism

Answer

Hyperthyroidism

Question 9

A 6-month-old infant shows delayed social smile, poor head control, and hypotonia. TSH is elevated, and T4 is low. What is the most likely diagnosis?

Accepted Answer

Congenital hypothyroidism

Answer

Down syndrome

Answer

Prader-Willi syndrome

Answer

Cerebral palsy

Question 10

A 3 week neonate with ambiguous genitalia presented with Na+ 127 meq/L, K+ 7.2 meq/L with BP 52/24 mm Hg and was managed with IV fluids. What is the next step of management?

Accepted Answer

Hydrocortisone administration

Answer

Calcium gluconate

Answer

Broad spectrum antibiotics

Answer

Spironolactone

Endocrinology — MCQs

Endocrinology — MCQs

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