Endocrinology Practice Questions

Q: In Precocious puberty, the age limit for girls is?

8 years. ***8 years*** - Precocious puberty is defined clinically by the development of secondary sexual characteristics in girls before the age of **8 years old**. - This age cut-off is based on population studies and clinical consensus to identify children needing further evaluation for underlying causes. *10 years* - This age is generally considered within the **normal range** for the onset of puberty, not precocious. - Pubertal development typically begins between ages 8 and 13 in girls. *9 years* - While close to the precocious threshold, **9 years** is still considered within the typical window for the onset of puberty. - The established clinical definition for precocious puberty in girls is explicitly _before_ the age of 8. *11 years* - This age is well within the **normal range** for pubertal onset and progression in girls. - Development of secondary sexual characteristics at this age would not be considered precocious.

Q: A 5-year-old boy presents with pubic hair development, being tall, and having increased pigmentation of his genitalia and phallic enlargement, along with a blood pressure of 130/90 mmHg. Measurement of which of the following diagnostic hormones would be most likely to indicate a diagnosis of congenital adrenal hyperplasia?

Increase 17-hydroxyprogesterone. ***Increase 17 beta-hydroxyprogesterone*** - The clinical presentation of **precocious puberty** (pubic hair, phallic enlargement), **hypertension**, and **hyperpigmentation** strongly suggests **congenital adrenal hyperplasia (CAH)**. - In most common forms of CAH (e.g., 21-hydroxylase deficiency), there is an inability to convert **17-hydroxyprogesterone** to 11-deoxycortisol, leading to its significant accumulation. *Increase cortisol* - In CAH due to enzyme deficiencies, the adrenal glands are unable to synthesize sufficient **cortisol**, leading to its **decrease**, not an increase. - The low cortisol then triggers increased **ACTH** release, driving the overproduction of adrenal androgens and precursors. *Increase aldosterone* - Only in specific forms of CAH (e.g., 17-alpha-hydroxylase deficiency) would **aldosterone** be increased (due to shunting of precursors), but this is less common and would typically present with hypokalemia rather than hyperpigmentation. - In the more common 21-hydroxylase deficiency, **aldosterone can be decreased** (salt-wasting form), or normal, leading to hyponatremia and hyperkalemia. *Increase 11-deoxycortisol* - An increase in **11-deoxycortisol** is characteristic of **11-beta-hydroxylase deficiency**, another form of CAH. - While this form also causes **hypertension** and **virilization**, the most prominent precursor elevated in the majority of CAH cases (21-hydroxylase deficiency) is **17-hydroxyprogesterone**.

Q: A 7-day-old newborn presents with vomiting and dehydration. The clinical examination is normal except for hyperpigmentation of the nipple. Electrolyte levels show Na: 120 meq/L and K: 9 meq/L. What is the most likely diagnosis?

Congenital adrenal hyperplasia. ***Congenital adrenal hyperplasia*** - In **congenital adrenal hyperplasia (CAH)**, particularly 21-hydroxylase deficiency, mineralocorticoid deficiency leads to **salt wasting** with **hyponatremia** and **hyperkalemia**, as seen in this newborn. - **Hyperpigmentation** occurs due to increased ACTH, which also stimulates melanocytes, as a result of cortisol deficiency. *Primary hypothyroidism* - While newborns with primary hypothyroidism can present with feeding difficulties and lethargy, **electrolyte abnormalities** like severe hyponatremia and hyperkalemia are not typical features. - **Hyperpigmentation** is also not a common finding in primary hypothyroidism. *Panhypopituitarism* - **Panhypopituitarism** in a newborn can cause hypoglycemia and other hormone deficiencies, but generally does not present with isolated and severe **salt-wasting crisis** with hyperkalemia, nor isolated nipple hyperpigmentation in this manner. - Multiple trophic hormone deficiencies would be expected, rather than primarily adrenal crisis symptoms. *Pyloric stenosis* - **Pyloric stenosis** typically presents with **non-bilious projectile vomiting** starting around 3-6 weeks of age, not commonly at 7 days, and leads to **hypochloremic alkalosis** with hypokalemia, not hyperkalemia and hyponatremia. - **Hyperpigmentation** is not associated with pyloric stenosis.

Q: All of the following statements about Nesidioblastosis are true, except:

Occurs in adults more than children. ***Occurs in adults more than children*** - **Nesidioblastosis** is a rare condition predominantly seen in **infants and children**, especially those with congenital hyperinsulinism. It is far less common in adults. - While adult forms can occur, the statement that it occurs more in adults than children is incorrect. *Hypoglycemic episodes may be seen* - Nesidioblastosis is characterized by **unregulated or excessive insulin secretion**, leading to recurrent episodes of severe **hypoglycemia**. - These hypoglycemic episodes can cause significant morbidity, particularly in infants. *Histopathology shows hyperplasia of islet cells* - The defining feature of nesidioblastosis is the **diffuse or focal hyperplasia of pancreatic islet cells**, particularly the beta cells. - These hyperplastic cells may be found budding off ducts or dispersed throughout the exocrine pancreas. *Diazoxide may be used for treatment* - **Diazoxide** is an ATP-sensitive potassium channel opener that reduces insulin secretion from pancreatic beta cells. - It is a common medical therapy used to manage hypoglycemia in patients with nesidioblastosis, especially in pediatric cases where it can sometimes avoid the need for surgery.

Q: What is the most common cause of primary adrenal insufficiency in children?

Congenital adrenal hyperplasia. ***Congenital adrenal hyperplasia*** - **Congenital adrenal hyperplasia (CAH)** is a group of genetic disorders that affect the adrenal glands' ability to produce hormones. - It is the most common cause of **primary adrenal insufficiency** in children, particularly in newborns and infants, due to enzymatic defects like **21-hydroxylase deficiency**. *Autoimmune adrenalitis* - While it is the most common cause of primary adrenal insufficiency (Addison's disease) in adults, **autoimmune adrenalitis** is far less common in children. - Its incidence increases with age, primarily manifesting in **adolescents and adults**. *Adrenal hemorrhage* - **Adrenal hemorrhage** can cause acute adrenal crisis, especially in neonates due to birth trauma or stress, but it is not a common cause of chronic **primary adrenal insufficiency**. - It is typically an acute event rather than a long-term cause of adrenal dysfunction. *None of the options* - This option is incorrect because **Congenital Adrenal Hyperplasia** is a well-established and frequent cause of primary adrenal insufficiency in children.

Q: A boy presented with prolonged jaundice, constipation, and umbilical hernia. What is the probable diagnosis?

Congenital hypothyroidism. ***Congenital hypothyroidism*** - **Prolonged jaundice** is a common and early sign in congenital hypothyroidism due to delayed bilirubin conjugation and excretion. - **Constipation** and an **umbilical hernia** are classic features, reflecting decreased gut motility and weak abdominal muscles associated with thyroid hormone deficiency. *Growth hormone deficiency* - Primarily presents with **short stature** and delayed bone age, not typically with prolonged jaundice or umbilical hernia in infancy. - While it can be associated with some developmental delays, the combination of signs in the question points away from this diagnosis. *Kernicterus* - This is a neurological consequence of **untreated severe hyperbilirubinemia**, leading to brain damage, not a primary cause of jaundice itself. - While prolonged jaundice is present, kernicterus would manifest with severe neurological symptoms like lethargy, poor feeding, and opisthotonus, not umbilical hernia. *Congenital adrenal hyperplasia* - Presents due to deficiencies in adrenal steroid synthesis, leading to **ambiguous genitalia** in females and **salt-wasting crises** in classic forms. - It does not typically cause prolonged jaundice or umbilical hernia as primary manifestations.

Q: Which of the following is NOT a feature of hypothyroidism?

Short metacarpals in hands. Short metacarpals in hands - While other skeletal developmental issues like **delayed bone age** and altered proportions are seen in hypothyroidism, **short metacarpals** (brachydactyly) are not a typical feature. - Short metacarpals are more characteristic of conditions like **Turner syndrome** or **pseudohypoparathyroidism**, not primary hypothyroidism. *Delayed puberty* - **Hypothyroidism** can lead to significant delays in growth and development, including **delayed onset of puberty**, due to its impact on overall metabolic processes and hormonal regulation [1]. - Insufficient thyroid hormones are crucial for proper **gonadal development** and function. *Delayed bone age* - **Thyroid hormones** are essential for normal epiphyseal fusion and bone maturation; therefore, their deficiency in hypothyroidism leads to a **delayed skeletal maturation**, which is observed as a delayed bone age on X-rays [1]. - This delay indicates that the bones are less mature than expected for the chronological age of the individual. *Altered upper and lower segment ratio* - In children with **untreated hypothyroidism**, bone growth can be disproportionate, leading to an **altered upper to lower segment ratio**. - Specifically, they may have relatively **shortened legs** (lower segment) compared to their trunk (upper segment).

Q: An infant who is crying excessively despite being well-fed, passes a large quantity of urine, and repeatedly becomes dehydrated is most likely to have –

Diabetes insipidus (DI). ***Diabetes insipidus (DI)*** - The symptoms of **excessive crying**, **polyuria**, and **recurrent dehydration** in a well-fed infant are classic presentations of diabetes insipidus. - DI is characterized by the body's inability to concentrate urine due to insufficient production of **antidiuretic hormone (central DI)** or renal unresponsiveness to ADH (**nephrogenic DI**). *Diabetes mellitus (DM)* - While DM also causes **polyuria** and **dehydration**, it would typically present with **polydipsia** (excessive thirst which is difficult to assess in an infant), and often **poor feeding** or weight loss, not excessive crying despite being well-fed. - Laboratory findings would show **hyperglycemia** and **glycosuria**, which are not implied by the provided symptoms. *Congenital nephrotic syndrome (CNS)* - CNS is characterized by significant **proteinuria**, **edema**, and **hypoalbuminemia**, leading to poor growth and increased susceptibility to infections. - It does not typically cause **polyuria** leading to rapid dehydration in the same manner as DI. *Protein losing enteropathy (PLE)* - PLE involves excessive loss of **plasma proteins** into the gastrointestinal tract, leading to **edema**, **hypoalbuminemia**, and sometimes **diarrhea** or malabsorption. - It does not directly cause significant **polyuria** or a primary picture of dehydration in the way described.

Q: Treatment of choice in childhood thyrotoxicosis is:

Carbimazole. ***Carbimazole*** - **Antithyroid medications** like carbimazole are the **first-line treatment** for childhood thyrotoxicosis due to their efficacy in controlling hormone levels and lower risk compared to other interventions. - It works by inhibiting the synthesis of **thyroid hormones**, allowing for a gradual resolution of symptoms. *Radioiodine therapy* - This treatment is generally avoided in children due to potential long-term risks, including an increased risk of **thyroid cancer** and the need for lifelong **thyroid hormone replacement**. - It is typically reserved for older adolescents or cases where other treatments have failed. *Surgical intervention* - **Thyroidectomy** is usually considered a last resort in children due to the risks associated with surgery, such as damage to the **parathyroid glands** or **recurrent laryngeal nerve**. - It may be indicated in cases of very large goiter, drug intolerance, or non-compliance with medical therapy. *Lugol's iodine solution* - **Lugol's iodine** is primarily used for **short-term preparation** before thyroid surgery to decrease the vascularity of the gland and in **thyroid storm** to block hormone release. - It is not a definitive long-term treatment for childhood thyrotoxicosis due to its transient effect and potential for rebound hyperthyroidism.

Q: Which of the following hormones are raised in Prader-Willi syndrome?

Ghrelin. Ghrelin - Ghrelin levels are typically elevated in patients with Prader-Willi syndrome, contributing to their characteristic hyperphagia and obesity. - This increased ghrelin secretion leads to a perpetual feeling of hunger and an insatiable appetite. Luteinizing Hormone (LH) - LH levels are often low in individuals with Prader-Willi syndrome, contributing to hypogonadism [1]. - This deficiency is part of the broader endocrine dysfunction seen in the syndrome. Follicle Stimulating Hormone (FSH) - FSH levels are generally low in Prader-Willi syndrome, mirroring the low LH levels and indicating hypogonadotropic hypogonadism [1]. - This hormonal imbalance leads to incomplete sexual development and infertility. Growth Hormone (GH) - Growth hormone levels are typically low or deficient in Prader-Willi syndrome, contributing to short stature and abnormal body composition. - GH deficiency is a common feature, often necessitating exogenous growth hormone therapy.

Question 1

In Precocious puberty, the age limit for girls is?

Accepted Answer

8 years

Answer

10 years

Answer

9 years

Answer

11 years

Question 2

A 5-year-old boy presents with pubic hair development, being tall, and having increased pigmentation of his genitalia and phallic enlargement, along with a blood pressure of 130/90 mmHg. Measurement of which of the following diagnostic hormones would be most likely to indicate a diagnosis of congenital adrenal hyperplasia?

Accepted Answer

Increase 17-hydroxyprogesterone

Answer

Increase cortisol

Answer

Increase aldosterone

Answer

Increase 11 deoxycortisol

Question 3

A 7-day-old newborn presents with vomiting and dehydration. The clinical examination is normal except for hyperpigmentation of the nipple. Electrolyte levels show Na: 120 meq/L and K: 9 meq/L. What is the most likely diagnosis?

Accepted Answer

Congenital adrenal hyperplasia

Answer

Primary hypothyroidism

Answer

Panhypopituitarism

Answer

Pyloric stenosis

Question 4

All of the following statements about Nesidioblastosis are true, except:

Accepted Answer

Occurs in adults more than children

Answer

Histopathology shows hyperplasia of islet cells

Answer

Hypoglycemic episodes may be seen

Answer

Diazoxide may be used for treatment

Question 5

What is the most common cause of primary adrenal insufficiency in children?

Accepted Answer

Congenital adrenal hyperplasia

Answer

Autoimmune adrenalitis

Answer

Adrenal hemorrhage

Answer

None of the options

Question 6

A boy presented with prolonged jaundice, constipation, and umbilical hernia. What is the probable diagnosis?

Accepted Answer

Congenital hypothyroidism

Answer

Growth hormone deficiency

Answer

Kernicterus

Answer

Congenital adrenal hyperplasia

Question 7

Which of the following is NOT a feature of hypothyroidism?

Accepted Answer

Short metacarpals in hands

Answer

Delayed puberty

Answer

Delayed bone age

Answer

Altered upper and lower segment ratio

Question 8

An infant who is crying excessively despite being well-fed, passes a large quantity of urine, and repeatedly becomes dehydrated is most likely to have –

Accepted Answer

Diabetes insipidus (DI)

Answer

Diabetes mellitus (DM)

Answer

Congenital nephrotic syndrome (CNS)

Answer

Protein losing enteropathy (PLE)

Question 9

Treatment of choice in childhood thyrotoxicosis is:

Accepted Answer

Carbimazole

Answer

Radioiodine therapy

Answer

Surgical intervention

Answer

Lugol's iodine solution

Question 10

Which of the following hormones are raised in Prader-Willi syndrome?

Accepted Answer

Ghrelin

Answer

Follicle Stimulating Hormone (FSH)

Answer

Luteinizing Hormone (LH)

Answer

Growth Hormone (GH)

Endocrinology — MCQs

Endocrinology — MCQs

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