Endocrinology Practice Questions

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.

Q: Bone age is advanced in which of the following conditions?

Congenital adrenal hyperplasia. ***Congenital adrenal hyperplasia*** - In **congenital adrenal hyperplasia (CAH)**, the adrenal glands produce excessive androgens, leading to precocious puberty and **accelerated skeletal maturation**, thus advancing bone age. - The excess androgens cause early fusion of the **epiphyseal growth plates**, leading to a disproportionately taller stature in childhood but potentially shorter adult height. *Hypothyroidism* - **Hypothyroidism** causes delayed growth and development, including **delayed bone age**, due to insufficient thyroid hormone which is crucial for normal skeletal maturation. - Children with hypothyroidism typically have shorter stature for their chronological age and delayed ossification of epiphyses. *Hypopituitarism* - **Hypopituitarism**, especially growth hormone deficiency, leads to **delayed bone age** and significantly stunted growth because growth hormone is essential for normal skeletal development. - Insufficient growth hormone results in slower epiphyseal growth and delayed growth plate closure. *Constitutional delay in growth* - **Constitutional delay in growth and puberty** is characterized by a "late bloomer" pattern, where both linear growth and pubertal development are delayed, resulting in a **delayed bone age**. - These children typically have normal growth velocity for their bone age and will eventually reach a normal adult height, just later than their peers.

Q: A tentatively female newborn has ambiguous genitalia, with what appears to be a vagina associated with a significantly enlarged clitoris resembling a penis. Other findings include hyponatremia, hyperkalemia, and hypotension. Deficiency of which of the following is suggested by these findings?

21-Hydroxylase deficiency. ***21-Hydroxylase deficiency*** * This is the most common cause of **congenital adrenal hyperplasia (CAH)**, leading to a deficiency in cortisol and aldosterone production, and an excess of adrenal androgens. * The absence of **aldosterone** leads to **salt wasting**, presenting as hyponatremia and hyperkalemia, and potentially contributing to hypotension. The excess androgens cause **virilization** in genetic females, resulting in ambiguous genitalia like an enlarged clitoris. *17-Hydroxylase deficiency* * This deficiency leads to reduced production of **androgens**, estrogens, and cortisol, with an *excess* of mineralocorticoids. * Genetic females would typically present with **normal internal and external genitalia**, while genetic males would have ambiguous genitalia or female external genitalia due to insufficient androgen synthesis. It would also lead to hypertension due to mineralocorticoid excess, not hypotension. *3β-Hydroxysteroid dehydrogenase deficiency* * This deficiency impairs the synthesis of **cortisol**, aldosterone, and androgens, leading to a generalized steroid synthesis defect. * It causes both 46,XX females and 46,XY males to have **ambiguous genitalia**, but unlike 21-hydroxylase deficiency, it also results in a lack of dihydrotestosterone in males leading to undervirilization. *11-Hydroxylase deficiency* * This deficiency causes decreased production of **cortisol and aldosterone**, but leads to an *accumulation of 11-deoxycorticosterone*, which has mineralocorticoid activity. * This accumulation often results in **hypertension and hypokalemia**, which contradicts the patient's presentation of hypotension and hyperkalemia. It also leads to virilization in females due to increased androgen production.

Q: A 9-month-old child has been presented in the emergency department with a complaint of seizure that occurred one hour prior. On examination, the child is alert, and laboratory investigations reveal a serum calcium level of 5 mg%. What is the next line of treatment for this child?

Calcium in a dose of 2 ml/kg. ***Calcium in a dose of 2 ml/kg*** - The child presents with a seizure and **hypocalcemia** (serum calcium 5 mg%), indicating **hypocalcemic seizure**. - **Intravenous calcium gluconate** at a dose of 2 ml/kg (10% solution) is the immediate treatment to rapidly correct hypocalcemia and stop ongoing or recurrent seizures. *Phenytoin* - **Phenytoin** is an antiepileptic drug typically used for treating **generalized tonic-clonic seizures** or partial seizures. - It is not indicated as the first-line treatment for seizures caused by an **electrolyte imbalance** like hypocalcemia. *Diazepam* - **Diazepam** is a benzodiazepine used to treat **acute seizures** or status epilepticus due to its rapid onset and ability to suppress seizure activity. - While it could terminate an ongoing seizure, it does not address the underlying **hypocalcemia**, which is the cause of the seizure in this case. *Calcium in a dose of 1 ml/kg* - Although **calcium** is the correct treatment, the standard recommended initial dose for acute symptomatic hypocalcemia, especially with seizures in children, is **2 ml/kg** of 10% calcium gluconate. - A dose of **1 ml/kg** might be insufficient to rapidly correct severe hypocalcemia and control seizures effectively.

Q: Defined by the presence of virilizing signs in girls, select the type of sexual precocity with which it is most likely to be associated:

Heterosexual precocious pseudopuberty. ***Heterosexual precocious pseudopuberty*** - This condition is characterized by signs of sexual development that are **inconsistent with the genetic sex** of the individual, such as **virilization in girls**. - It occurs due to the presence of **androgens** from sources like adrenal tumors or congenital adrenal hyperplasia, leading to male secondary sexual characteristics in a genetically female individual. *True sexual precocity* - Involves the **premature activation of the hypothalamic-pituitary-gonadal (HPG) axis**, leading to the development of secondary sexual characteristics appropriate for the individual's genetic sex (e.g., breast development and pubic hair in girls). - This typically results in **isosexual precocity**, meaning the development of characteristics consistent with the child's own sex. *Incomplete sexual precocity* - Refers to the isolated development of a **single secondary sexual characteristic**, such as premature thelarche (breast development without other signs) or premature adrenarche (pubic or axillary hair development without other signs). - It does not involve the full constellation of virilizing signs in a girl. *Isosexual precocious pseudopuberty* - This condition involves the development of secondary sexual characteristics **appropriate for the individual's genetic sex**, but it is caused by **gonadal or adrenal tumors or exogenous steroids**, not by activation of the HPG axis. - In girls, this would manifest as early breast development and vaginal bleeding, not virilization.

Q: Brain tumor causing hypernatremia in children is typically associated with which of the following?

Craniopharyngioma. ***Craniopharyngioma*** - **Craniopharyngiomas** are benign tumors arising from Rathke's pouch remnants, often located near the **hypothalamus** and **pituitary gland**. - Their proximity to these structures can disrupt **ADH secretion** and regulation of water balance, leading to **diabetes insipidus** and subsequent **hypernatremia** in children. *Medulloblastoma* - **Medulloblastomas** are aggressive malignant tumors of the **cerebellum**, primarily impacting motor coordination and balance. - They typically do not directly affect the **hypothalamic-pituitary axis** to cause hypernatremia. *Cerebellar astrocytoma* - **Cerebellar astrocytomas** are common **pediatric brain tumors** usually located in the posterior fossa. - While they can cause **hydrocephalus** due to mass effect, they are not typically associated with disorders of sodium regulation or hypernatremia. *Brain stem glioma* - **Brain stem gliomas** affect vital functions controlled by the brain stem, such as breathing, heart rate, and cranial nerve function. - They are not commonly linked to the disruption of **fluid and electrolyte balance** like hypernatremia.

Question 1

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)

Question 2

Bone age is advanced in which of the following conditions?

Accepted Answer

Congenital adrenal hyperplasia

Answer

Hypothyroidism

Answer

Hypopituitarism

Answer

Constitutional delay in growth

Question 3

A tentatively female newborn has ambiguous genitalia, with what appears to be a vagina associated with a significantly enlarged clitoris resembling a penis. Other findings include hyponatremia, hyperkalemia, and hypotension. Deficiency of which of the following is suggested by these findings?

Accepted Answer

21-Hydroxylase deficiency

Answer

17-Hydroxylase deficiency

Answer

3β-Hydroxysteroid dehydrogenase deficiency

Answer

11-Hydroxylase deficiency

Question 4

A 9-month-old child has been presented in the emergency department with a complaint of seizure that occurred one hour prior. On examination, the child is alert, and laboratory investigations reveal a serum calcium level of 5 mg%. What is the next line of treatment for this child?

Accepted Answer

Calcium in a dose of 2 ml/kg

Answer

Diazepam

Answer

Phenytoin

Answer

Calcium in a dose of 1 ml/kg

Question 5

Defined by the presence of virilizing signs in girls, select the type of sexual precocity with which it is most likely to be associated:

Accepted Answer

Heterosexual precocious pseudopuberty

Answer

True sexual precocity

Answer

Incomplete sexual precocity

Answer

Isosexual precocious pseudopuberty

Question 6

Brain tumor causing hypernatremia in children is typically associated with which of the following?

Accepted Answer

Craniopharyngioma

Answer

Medulloblastoma

Answer

Cerebellar astrocytoma

Answer

Brain stem glioma

Endocrinology — MCQs

Endocrinology — MCQs

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