Endocrinology Practice Questions

Q: Which is true about an infant with failure to thrive, ambiguous genitalia, dehydration, hypotension, hyponatremia, and hyperkalemia consistent with a salt-wasting crisis due to 21-hydroxylase deficiency?

Increased urinary sodium. ***Increased urinary sodium*** - This image displays an infant with **ambiguous genitalia**, specifically severe clitoromegaly. This is a classic presentation of **congenital adrenal hyperplasia (CAH)** due to **21-hydroxylase deficiency**. - In salt-wasting CAH, deficient **aldosterone** production leads to **renal sodium loss**, resulting in increased urinary sodium, **hyponatremia**, and **hypotension**, contributing to failure to thrive. *Hypokalemia* - **Hypokalemia** is not typically seen in salt-wasting CAH; rather, **hyperkalemia** is more common due to the lack of aldosterone's mineralocorticoid effect, which normally promotes potassium excretion. - The absence of aldosterone causes sodium to be excreted and potassium to be retained. *Metabolic alkalosis* - **Metabolic alkalosis** is not characteristic of salt-wasting CAH; instead, these infants often develop **metabolic acidosis** due to mineralocorticoid deficiency causing impaired distal hydrogen-ion secretion in the collecting duct. - The primary electrolyte disturbance points towards acidosis, not alkalosis. *Increased cortisol* - In 21-hydroxylase deficiency, the enzyme responsible for converting precursors to **cortisol** and aldosterone is deficient, leading to **decreased cortisol** production. - The adrenal glands instead shunt precursors towards androgen synthesis, causing **adrenal hyperplasia** and the virilization seen in the image.

Q: Which of the following are causes of hypocalcemia in a child? I. Hypomagnesemia II. Hypophosphatemia III. Metabolic acidosis IV. Pseudohypoparathyroidism Select the correct answer using the code given below :

I and IV. ***I and IV*** - **Hypomagnesemia** impairs parathyroid hormone (PTH) secretion and causes target organ resistance to PTH, leading to hypocalcemia. - **Pseudohypoparathyroidism** is a genetic disorder where target organs are resistant to PTH, resulting in hypocalcemia and hyperphosphatemia despite normal or elevated PTH levels [1]. *II and III* - **Hypophosphatemia** is typically associated with **hypercalcemia** rather than hypocalcemia, as phosphate binds to calcium [3]. - **Metabolic acidosis** often causes an increase in **ionized calcium** (the physiologically active form) due to reduced protein binding, rather than overall hypocalcemia. *I and II* - While **hypomagnesemia** causes hypocalcemia, **hypophosphatemia** is generally associated with hypercalcemia, making this option incorrect [2]. - Hypophosphatemia reduces the formation of calcium-phosphate complexes, thus increasing free calcium levels. *III and IV* - **Pseudohypoparathyroidism** does cause hypocalcemia, but **metabolic acidosis** typically leads to higher ionized calcium levels, not hypocalcemia. - The compensatory mechanisms for acidosis tend to mobilize calcium from bone, further counteracting hypocalcemia.

Q: The clinical features of Turner Syndrome in girls include the following except:

Severe mental retardation. ***Severe mental retardation*** - **Severe mental retardation** is not a typical feature of Turner Syndrome; individuals with Turner Syndrome usually have normal intelligence, though some may experience **visuospatial processing difficulties**. - Intellectual disabilities are not a defining characteristic of this chromosomal disorder. *Webbing of the neck* - **Webbed neck** (pterygium colli) is a characteristic physical finding in many girls with Turner Syndrome, resulting from lymphatic abnormalities during fetal development. - This feature is often present at birth and contributes to the distinct appearance associated with the syndrome. *Short stature* - **Short stature** is a nearly universal and defining feature of Turner Syndrome [1], stemming from the absence of the **short stature homeobox-containing gene (SHOX gene)** located on the missing X chromosome. - Growth hormone therapy is often used to improve adult height in affected individuals. *Delayed puberty* - **Delayed puberty** and primary amenorrhea are common in Turner Syndrome due to **gonadal dysgenesis** [1], [2], where the ovaries fail to develop or function normally. - Consequently, affected individuals have a deficiency in estrogen production, leading to absent or incomplete pubertal development.

Q: Which of the following are causes of GnRH dependent precocious puberty? 1. Constitutional 2. Tubercular Encephalitis 3. McCune-Albright syndrome 4. Primary hypothyroidism

1, 2 and 3. ***1, 2 and 3*** - **Constitutional precocious puberty** is the most common form of central (GnRH-dependent) precocious puberty, where the hypothalamic-pituitary-gonadal axis matures prematurely without an underlying organic cause [1]. - **Tubercular encephalitis** can cause CNS lesions that stimulate the hypothalamus, leading to premature GnRH release and subsequent central precocious puberty [1]. - **McCune-Albright syndrome** is primarily associated with GnRH-independent precocious puberty, but in a small percentage of cases, chronic stimulation of the ovaries (due to activating GNAS mutations) can eventually lead to secondary central (GnRH-dependent) precocious puberty via an exhausted feedback mechanism. *1 and 2 only* - This option is incorrect because while constitutional precocious puberty and tubercular encephalitis are causes of GnRH-dependent precocious puberty, McCune-Albright syndrome can also lead to GnRH-dependent precocious puberty secondarily. - It omits a valid cause, making it an incomplete answer. *2, 3 and 4* - This option incorrectly includes **primary hypothyroidism** as a cause of GnRH-dependent precocious puberty. Primary hypothyroidism is associated with GnRH-independent (peripheral) precocious puberty due to elevated TSH cross-reacting with FSH receptors. - It also omits **constitutional precocious puberty**, which is the most common cause of GnRH-dependent precocious puberty [1]. *1, 3 and 4* - This option incorrectly includes **primary hypothyroidism** as a cause of GnRH-dependent precocious puberty; it is a cause of GnRH-independent precocity. - While constitutional precocious puberty is a correct inclusion, the presence of primary hypothyroidism makes this option incorrect for GnRH-dependent causes.

Q: Which test is not required for Turner mosaic syndrome?

ANA. ***ANA*** - **Antinuclear antibody (ANA)** testing is primarily used for diagnosing autoimmune diseases like **systemic lupus erythematosus** and is not routinely required for the management of Turner mosaic syndrome. - While autoimmune conditions can rarely co-occur, ANA is not a standard screening or diagnostic test for the common complications of Turner syndrome. *Audiometry* - **Audiometry** is recommended for Turner syndrome patients due to an increased risk of **hearing loss**, particularly **sensorineural hearing loss**. - Regular monitoring helps detect and manage hearing impairments early, which can affect development and quality of life. *Oral glucose tolerance test* - Patients with Turner syndrome have an increased risk of developing **glucose intolerance** and **type 2 diabetes mellitus**. - An **oral glucose tolerance test (OGTT)** is important for screening and early detection of these metabolic abnormalities. *Echo* - **Echocardiography** is crucial for evaluating potential **cardiovascular abnormalities**, which are common in Turner syndrome. - These can include **bicuspid aortic valve**, **coarctation of the aorta**, and other structural heart defects.

Q: In a newly diagnosed case of a sick child with type 1 diabetes mellitus (DM), insulin was given. Which of the following will increase:

pH. ***pH*** - In newly diagnosed, uncontrolled **Type 1 DM**, patients often present with **diabetic ketoacidosis (DKA)**, leading to metabolic acidosis and a **critically low pH** (typically <7.3). - Administering insulin corrects the underlying metabolic derangements, reducing **ketoacid production** and allowing the body's **buffer systems** to restore pH towards normal. - **Correction of acidosis** is the **primary therapeutic goal** and the most clinically significant parameter that increases with insulin therapy in DKA. *Breathing rate* - In **DKA**, patients often exhibit **Kussmaul respirations** (deep, rapid breathing) as a compensatory mechanism to blow off CO2 and reduce acidosis. - As insulin therapy corrects the acidosis, the need for this compensatory mechanism decreases, leading to a **reduction**, not an increase, in breathing rate. *Urine osmolality* - In uncontrolled **Type 1 DM** and **DKA**, high blood glucose leads to **osmotic diuresis**, where glucose pulls water into the urine, resulting in polyuria and typically **low urine osmolality** (dilute urine). - While insulin therapy may allow some increase in urine concentration as osmotic diuresis decreases, this is a **secondary effect** and not the primary clinical focus in acute DKA management. - Additionally, initial fluid resuscitation in DKA treatment maintains diuresis, so urine osmolality changes are variable and less predictable. *Glucosuria* - **Glucosuria** (glucose in the urine) is a hallmark of uncontrolled diabetes due to hyperglycemia exceeding the renal threshold for glucose reabsorption. - Insulin treatment lowers blood glucose levels, which in turn **reduces or eliminates glucosuria**, as the kidneys no longer filter excessive amounts of glucose.

Q: Cretinism is -

Short stature with short trunk. ***Short stature with short trunk*** - **Cretinism** (congenital hypothyroidism) causes **proportionate dwarfism** where both the trunk and limbs are short but maintain relatively normal body proportions. - Untreated congenital thyroid hormone deficiency leads to **delayed bone maturation** affecting the entire skeleton uniformly, resulting in **generalized growth retardation**. - Clinical features include **short stature, infantile body proportions, delayed dentition, mental retardation, protruding abdomen, umbilical hernia, large tongue (macroglossia), coarse facial features, and hypotonia**. *Long stature with long trunk* - This describes conditions like **Marfan syndrome** or **Klinefelter syndrome** characterized by tall stature with elongated limbs. - Completely opposite to the **short stature** seen in cretinism. *Short stature with long trunk* - This is not characteristic of cretinism. - Neither trunk nor limbs are disproportionately affected in congenital hypothyroidism. *Disproportionate dwarfism* - This term refers to conditions where one body part (usually limbs) is significantly shorter than another (usually trunk). - Examples include **achondroplasia** (short limbs with normal trunk) and **rickets** (limb deformities). - **Cretinism causes proportionate, not disproportionate, dwarfism** with uniform growth retardation affecting the entire body.

Q: Hyperthyroidism in children is not associated with:

Mandibular retrognathism. ***Mandibular retrognathism*** - **Mandibular retrognathism** (a receded jaw) is not a feature typically associated with hyperthyroidism in children; rather, hyperthyroidism is linked to accelerated growth and development [1]. - Children with hyperthyroidism often exhibit **macrognathia** (enlarged jaw) due to accelerated skeletal maturation, the opposite of retrognathism [1]. *Osteoporosis* - **Accelerated bone turnover** with a net loss of bone mass is common in hyperthyroidism, leading to a higher risk of **osteoporosis** and fractures [1]. - The increased metabolic rate from excessive thyroid hormones directly impacts **bone remodeling**, favoring resorption over formation. *Precocious eruption of teeth* - Hyperthyroidism can cause generalized **accelerated somatic growth** and development, which includes accelerated dental development and **precocious eruption of teeth** [1]. - The elevated thyroid hormone levels speed up the physiological processes involved in tooth formation and emergence. *Periodontal destruction* - The increased metabolic rate and inflammatory state associated with hyperthyroidism can contribute to worsened **periodontal health** and increased susceptibility to **periodontal destruction** [2]. - Hyperthyroidism can exacerbate existing **gingivitis** and lead to more rapid progression of periodontitis due to its effects on tissue metabolism and immune function [2].

Q: Screening for nephropathy in prepubertal children with type 1 DM should be initiated after how many years of disease onset?

5 years. ***5 years*** - The **American Diabetes Association (ADA)** recommends initiating screening for **diabetic nephropathy** in type 1 DM patients starting at **5 years after diagnosis**, provided the patient has reached **puberty (Tanner stage 2-3) or age ≥11 years**. - In prepubertal children, even with 5+ years of disease duration, screening is typically **deferred until puberty** because microvascular complications are exceedingly rare before pubertal onset. - The **5-year duration threshold** is the standard timeframe, but it is coupled with pubertal status as a key criterion. *3 years* - This duration is too early according to current **ADA guidelines**, which recommend screening after **5 years** of disease duration. - The risk of **nephropathy** developing within 3 years in type 1 DM patients, especially prepubertal children, is very low. *4 years* - While closer to the guideline, **4 years** is still premature compared to the evidence-based **5-year threshold** recommended by major diabetes organizations. - Early screening before 5 years would increase false positives and unnecessary interventions. *2 years* - Initiating screening after only **2 years** is far too early and not supported by current evidence. - **Microvascular complications** including nephropathy require longer disease duration to develop, making 2-year screening inefficient and not cost-effective.

Q: An eight-year-old girl presented by her mother with sexual precocity. She may have the following disorder:

McCune Albright syndrome. ***McCune Albright syndrome*** - This syndrome is characterized by a triad of **fibrous dysplasia**, **café-au-lait spots**, and **precocious puberty**, which fits the clinical picture of an 8-year-old girl with sexual precocity. - The precocious puberty in McCune-Albright syndrome is typically **gonadotropin-independent**, meaning it originates from the ovaries due to overactivity rather than pituitary stimulation. *Addison's disease* - Addison's disease involves **adrenal insufficiency**, leading to symptoms like fatigue, weight loss, and hyperpigmentation, but it typically does not cause sexual precocity. - It would be associated with low **cortisol** and high **ACTH** levels, which are not indicative of premature sexual development. *Neuroblastoma* - **Neuroblastoma** is a childhood cancer that can cause symptoms due to catecholamine secretion or mass effect, but it does not directly cause sexual precocity. - While it can be associated with paraneoplastic syndromes, precocious puberty is not a typical manifestation. *Hyperthyroidism* - **Hyperthyroidism** in children can present with symptoms like weight loss, tachycardia, and goiter, but it is not a direct cause of sexual precocity. - While thyroid hormones influence growth and development, they do not typically trigger premature pubertal changes.

Question 1

Which is true about an infant with failure to thrive, ambiguous genitalia, dehydration, hypotension, hyponatremia, and hyperkalemia consistent with a salt-wasting crisis due to 21-hydroxylase deficiency?

Accepted Answer

Increased urinary sodium

Answer

Metabolic alkalosis

Answer

Increased cortisol

Answer

Hypokalemia

Question 2

Which of the following are causes of hypocalcemia in a child?
I. Hypomagnesemia
II. Hypophosphatemia
III. Metabolic acidosis
IV. Pseudohypoparathyroidism

Select the correct answer using the code given below :

Accepted Answer

I and IV

Answer

II and III

Answer

I and II

Answer

III and IV

Question 3

The clinical features of Turner Syndrome in girls include the following except:

Accepted Answer

Severe mental retardation

Answer

Webbing of the neck

Answer

Short stature

Answer

Delayed puberty

Question 4

Which of the following are causes of GnRH dependent precocious puberty?

1. Constitutional
2. Tubercular Encephalitis
3. McCune-Albright syndrome
4. Primary hypothyroidism

Accepted Answer

1, 2 and 3

Answer

1 and 2 only

Answer

2, 3 and 4

Answer

1, 3 and 4

Question 5

Which test is not required for Turner mosaic syndrome?

Accepted Answer

ANA

Answer

Audiometry

Answer

Oral glucose tolerance test

Answer

Echo

Question 6

In a newly diagnosed case of a sick child with type 1 diabetes mellitus (DM), insulin was given. Which of the following will increase:

Accepted Answer

pH

Answer

Breathing rate

Answer

Urine osmolality

Answer

Glucosuria

Question 7

Cretinism is -

Accepted Answer

Short stature with short trunk

Answer

Long stature with long trunk

Answer

Disproportionate dwarfism

Answer

Short stature with long trunk

Question 8

Hyperthyroidism in children is not associated with:

Accepted Answer

Mandibular retrognathism

Answer

Osteoporosis

Answer

Precocious eruption of teeth

Answer

Periodontal destruction

Question 9

Screening for nephropathy in prepubertal children with type 1 DM should be initiated after how many years of disease onset?

Accepted Answer

5 years

Answer

3 years

Answer

4 years

Answer

2 years

Question 10

An eight-year-old girl presented by her mother with sexual precocity. She may have the following disorder:

Accepted Answer

McCune Albright syndrome

Answer

Addison's disease

Answer

Neuroblastoma

Answer

Hyperthyroidism

Endocrinology — MCQs

Endocrinology — MCQs

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