Endocrinology Practice Questions

Q: What is the most common cause of death in children with Diabetic ketoacidosis?

Cerebral edema. ***Cerebral edema*** - It is the **most common cause of mortality** in pediatric DKA, occurring in 0.5-1% of cases with a mortality rate of 20-25% [1] - Occurs due to rapid changes in **plasma osmolality** during treatment - the rapid decrease of blood glucose and effective osmolarity creates an osmotic gradient, causing fluid shifts into brain cells - Leads to potentially fatal **intracranial pressure** elevation with clinical features of headache, altered mental status, bradycardia, and respiratory depression - Risk factors include: new-onset diabetes, younger age, severe acidosis, and rapid fluid administration *Hypokalemia* - Potassium levels often drop dramatically during DKA treatment as insulin drives potassium into cells, potentially causing life-threatening **cardiac arrhythmias** [1] - This complication is highly anticipated and routinely managed by **potassium replacement therapy** with close monitoring [3] - While potentially fatal if unrecognized, it is a **preventable and treatable** condition with proper electrolyte management *Dehydration* - Severe dehydration causing **hypovolemic shock** is a major factor contributing to morbidity in DKA [2] - Effectively managed by aggressive **IV fluid resuscitation** with careful monitoring [3] - In treated pediatric DKA, the failure leading to death is typically the development of **cerebral edema** rather than persistent volume depletion [1] *Sepsis* - While sepsis can precipitate DKA, it is an underlying **trigger** or precipitating factor, not the direct physiological cause of death during DKA itself - The overwhelming fatality **in** pediatric DKA (as opposed to from the precipitating illness) is generally attributed to **cerebral edema** from rapid fluid shifts leading to central nervous system complications [1]

Q: Which of the following is the most common cause of mortality in diabetic ketoacidosis?

Cerebral edema. ***Cerebral edema*** - This is the most catastrophic and frequent cause of death, particularly in children and adolescents being treated for DKA [2].- It is often linked to the **rapid administration of hypotonic fluids** or overly quick correction of **hyperglycemia**, causing rapid shifts in **osmolality** that lead to brain swelling [3]. *Acute respiratory distress syndrome*- While DKA is a risk factor for ARDS (often secondary to severe systemic inflammation or associated **sepsis**), it is not the most common direct cause of death [2].- Focus remains on metabolic management; respiratory failure is less common than neurological compromise as a fatal event. *Cardiac arrhythmia*- Severe **hypokalemia** (often unmasked or worsened by insulin therapy) can precipitate fatal cardiac arrhythmias, such as **ventricular fibrillation** [2].- Though a serious complication, carefully monitored electrolyte management generally prevents this, making it less common than cerebral edema as the leading cause of mortality. *Acute kidney injury*- AKI is highly common in DKA, primarily driven by severe **volume depletion** and resulting **prerenal azotemia** [1].- This is reversible with fluid resuscitation and, while it increases overall morbidity, it rarely causes acute mortality more frequently than cerebral edema during the initial hospitalization phase.

Q: Which of the following is not true in Turner Syndrome?

Prominent occiput. ***Prominent occiput*** - This physical feature is **NOT** associated with Turner Syndrome and is therefore the correct answer. - A prominent occiput is a classic distinguishing feature of **Trisomy 18 (Edwards Syndrome)**, not Turner syndrome. - Turner syndrome patients typically have normal occiput configuration, helping differentiate it from other chromosomal aneuploidies. *Incorrect - Short 4th metacarpals* - This is actually a **classic feature** of Turner Syndrome, known as the **metacarpal sign**. - Short 4th and 5th metacarpals are well-documented skeletal abnormalities in Turner syndrome. - On X-ray, extending a line along the 4th and 5th metacarpal heads normally passes distal to the 3rd metacarpal head, but in Turner syndrome it passes through or proximal to it. *Incorrect - Webbed neck* - This is a highly characteristic feature of Turner Syndrome, clinically known as **pterygium colli**. - Results from regression of fetal cystic hygromas (lymphatic malformations). - Strongly associated with the **45,X karyotype** and is a significant phenotypic marker. *Incorrect - Widely spaced hypoplastic nipples* - This describes the **shield chest** appearance, a key physical characteristic of Turner syndrome. - Part of the constellation of congenital developmental anomalies including broad chest with increased internipple distance. - Directly linked to the underlying chromosomal abnormality and developmental changes.

Q: A female baby of 6 years presents with the features shown in image. All the following statements regarding this condition are true except:

Galactorrhea. ***Galactorrhea (Correct Answer - FALSE Statement)*** - **Galactorrhea** (inappropriate lactation) is **NOT a typical feature of precocious puberty** - While both involve hormonal changes, precocious puberty is characterized by early development of secondary sexual characteristics (thelarche, pubarche, menarche), not milk production - Galactorrhea is associated with hyperprolactinemia, which is a separate endocrine disorder - **This is the EXCEPT/FALSE statement, making it the correct answer** *GnRH analog is the drug of choice (TRUE - Incorrect for EXCEPT question)* - For **central precocious puberty**, **GnRH analogs** (leuprolide, triptorelin) are the first-line treatment - They suppress the pituitary-gonadal axis by downregulating GnRH receptors, halting pubertal progression - Treatment goals include preserving adult height potential and preventing psychosocial complications *Most common cause is constitutional (TRUE - Incorrect for EXCEPT question)* - **Idiopathic/constitutional central precocious puberty** is the most common cause in girls (~90% of cases) - No underlying pathological cause is identified; the hypothalamic-pituitary-gonadal axis is activated prematurely - More common in girls than boys; boys require more thorough workup for CNS pathology *This condition is associated with McCune Albright syndrome (TRUE - Incorrect for EXCEPT question)* - **McCune-Albright syndrome** causes **peripheral (gonadotropin-independent) precocious puberty** - Classic triad: café-au-lait spots, polyostotic fibrous dysplasia, and autonomous endocrine hyperfunction - Results from activating mutation in GNAS gene causing autonomous ovarian function - While less common than idiopathic causes, it is an important differential diagnosis

Q: A Lethargic hypoglycemic girl neonate has the following genital appearance. What is the probable cause? (Recent Neet Pattern 2016-17)

Congenital adrenal hyperplasia. ***Congenital adrenal hyperplasia*** - The image shows **ambiguous genitalia (clitoromegaly/phallic structure with fused labia)** in a neonate presenting with **lethargy and hypoglycemia**, which are symptoms of **salt-wasting crisis**. - This clinical picture in a presumed genetic female is highly suggestive of **21-hydroxylase deficiency**, the most common form of CAH, leading to excess adrenal androgens and mineralocorticoid deficiency. *Ovotesticular disorder of sexual differentiation* - This condition involves the presence of both **ovarian and testicular tissue**, leading to ambiguous genitalia. - While it can cause ambiguous genitalia, it does not typically present with the acute metabolic crisis (hypoglycemia, lethargy) seen in this neonate, which points to a hormonal deficiency. *Turner syndrome* - **Turner syndrome (45, XO)** affects genetic females and is characterized by the absence of one X chromosome, typically resulting in **female external genitalia** that are usually normal or immature. - It does not cause ambiguous genitalia or the metabolic derangements (hypoglycemia) characteristic of adrenal insufficiency. *Klinefelter syndrome* - **Klinefelter syndrome (47, XXY)** affects genetic males and typically presents with **normal male external genitalia** at birth. - Features like hypogonadism and gynecomastia become apparent later in puberty, and it is not associated with ambiguous genitalia or neonatal metabolic crises.

Q: In a neonate with the following findings, what is the likely etiology of hypothyroidism? (NEET Pattern 2018)

Thyroid dysgenesis. ***Thyroid dysgenesis*** - The image shows a neonate with **cretinism features** (e.g., puffy face, large tongue, umbilical hernia) and a **newborn screening card** being collected (heel prick blood spots). - **Thyroid dysgenesis** (aplasia, hypoplasia, or ectopic thyroid) is the most common cause of **congenital hypothyroidism**, accounting for about 85% of cases. *Chronic lymphocytic thyroiditis* - Also known as **Hashimoto's thyroiditis**, this is an **autoimmune condition** that primarily affects adults and older children, not typically neonates. - While it can lead to hypothyroidism, it is an **acquired** rather than a congenital cause. *Thyroid dyshormonogenesis* - This refers to genetic defects in the **synthesis of thyroid hormones** due to enzymatic deficiencies within a structurally normal thyroid gland. - While it is a **congenital cause** of hypothyroidism, it is less common than thyroid dysgenesis (accounting for about 10-15% of cases). *None of above* - This option is incorrect because **thyroid dysgenesis** is a highly likely etiology given the clinical presentation and context of newborn screening.

Q: A 5-year-old girl presents with vaginal bleeding and thelarche. An X-ray shows multiple cysts in long bones, and she has multiple hyper-pigmented spots. This presentation is suggestive of McCune Albright syndrome. What type of precocious puberty is associated with this syndrome?

Peripheral precocious puberty. ***Peripheral precocious puberty*** - McCune-Albright Syndrome is characterized by **gonadotropin-independent precocious puberty**, meaning it results from a direct overproduction of sex hormones (estrogen in girls) by the gonads or adrenal glands, independent of pituitary control. - The **fibrous dysplasia** (cysts in long bones), **café-au-lait spots**, and **endocrinopathies** like precocious puberty are classic features of this syndrome. *Central precocious puberty* - This type of precocious puberty is **gonadotropin-dependent**, meaning it is initiated by the activation of the hypothalamic-pituitary-gonadal (HPG) axis. - While central precocious puberty can occur in girls, it is not the primary mechanism behind the precocious puberty seen in McCune-Albright syndrome, which is driven by peripheral hormone production. *Adrenal hyperplasia* - While adrenal hyperplasia can cause precocious puberty (specifically, precocious pseudopuberty), it primarily leads to **virilization** in girls due to excess androgen production, which is not described in this case (vaginal bleeding and thelarche suggest estrogen excess). - McCune-Albright syndrome typically involves **ovarian cysts** that autonomously produce estrogen, rather than adrenal hyperplasia as the primary cause of precocious puberty. *Ovarian tumor* - An ovarian tumor could cause peripheral precocious puberty, as it can directly produce estrogen. - However, the overall clinical picture including **fibrous dysplasia** and **café-au-lait spots** points to McCune-Albright syndrome as the underlying diagnosis, where precocious puberty is often due to autonomously functioning ovarian cysts that are part of the syndrome, rather than a solitary neoplastic tumor as the sole cause.

Q: The image shows a child with virilisation and clitoromegaly. What laboratory finding is typical for this condition, assuming the most common enzyme defect?

Increased urinary sodium. ***Increased urinary sodium*** - **Congenital adrenal hyperplasia (CAH)** due to **21-hydroxylase deficiency** is the most common cause of virilization and clitoromegaly in female infants, accounting for >90% of CAH cases. - This enzyme defect blocks the conversion of 17-hydroxyprogesterone to 11-deoxycortisol, impairing both **cortisol and aldosterone synthesis**. - The lack of **aldosterone** (mineralocorticoid) results in a **salt-wasting crisis** with renal sodium loss, leading to **hyponatremia, hyperkalemia, and inappropriately elevated urinary sodium excretion** despite low serum sodium. - Among the given options, increased urinary sodium is the characteristic laboratory finding of the salt-wasting form (seen in ~75% of 21-hydroxylase deficiency cases). *Low urinary sodium* - Low urinary sodium would suggest effective renal sodium retention with intact aldosterone function. - This is contrary to the aldosterone deficiency seen in salt-wasting CAH, where the kidneys cannot retain sodium appropriately. *Increased plasma cortisol* - In 21-hydroxylase deficiency, the enzyme block **prevents cortisol synthesis**, leading to **decreased plasma cortisol** levels. - The low cortisol triggers increased ACTH secretion, which drives adrenal androgen overproduction (causing virilization) and accumulation of precursors like 17-hydroxyprogesterone. *Increased aldosterone* - **Aldosterone synthesis is severely impaired** in 21-hydroxylase deficiency, leading to **decreased or absent aldosterone** levels. - Increased aldosterone would cause sodium retention and potassium excretion—the opposite of the salt-wasting crisis observed in this condition.

Q: The following instrument is used for:

Hypogonadism. ***Hypogonadism*** - The image displays an **orchidometer**, specifically a Prader orchidometer, which is a medical instrument used to measure the **volume of the testes**. - Testicular volume measurement is crucial for diagnosing and monitoring conditions like **hypogonadism**, where testicular size can be reduced. - It is primarily used to assess **pubertal development** and detect **delayed or precocious puberty**. *Hypothyroidism* - Hypothyroidism is a condition caused by **underactive thyroid gland**, leading to low thyroid hormone production. - While it can cause various systemic symptoms, it is not primarily diagnosed or monitored using an orchidometer. *Hypoadrenalism* - Hypoadrenalism, or Addison's disease, is a condition where the **adrenal glands produce insufficient steroid hormones**. - Diagnosis involves **blood tests measuring hormone levels** (e.g., cortisol, aldosterone) and is unrelated to testicular volume measurement. *Soto syndrome* - **Soto syndrome** is a genetic overgrowth disorder characterized by **excessive physical growth** during childhood, along with intellectual disability and distinctive facial features. - Its diagnosis is based on **clinical features and genetic testing**, not testicular volume measurement. - While some overgrowth syndromes can have testicular findings, the orchidometer is not a primary diagnostic tool for Soto syndrome.

Q: All of the following associations are seen with this syndrome except:

Hyper-convex finger nails. The image shows a child with a **webbed neck** (indicated by the arrow), a **low posterior hairline**, and possibly **short stature** and a **broad chest**, which are classic features of **Turner Syndrome**. The question asks which association is NOT seen with this syndrome. ***Hyper-convex finger nails*** - *Hyper-convex fingernails* are generally **not a characteristic feature** of Turner Syndrome. Nail anomalies are less common, and when present, are often non-specific. - This symptom is more commonly associated with conditions like **clubbing** or other specific nail dystrophies. *Recurrent bilateral otitis media* - Girls with Turner Syndrome frequently experience **recurrent otitis media** due to Eustachian tube dysfunction and structural abnormalities of the middle ear. - This can lead to **hearing loss** if not properly managed. *Pelvic kidney* - **Renal anomalies** are common in Turner Syndrome, including horseshoe kidney, duplicate collecting systems, and **pelvic kidneys**. - Approximately one-third of individuals with Turner Syndrome have some form of **renal abnormality**. *Umbilical hernia* - **Umbilical hernias** are observed with increased frequency in individuals with Turner Syndrome. - This is considered one of the many **developmental anomalies** associated with the syndrome.

Question 1

What is the most common cause of death in children with Diabetic ketoacidosis?

Accepted Answer

Cerebral edema

Answer

Hypokalemia

Answer

Dehydration

Answer

Sepsis

Question 2

Which of the following is the most common cause of mortality in diabetic ketoacidosis?

Accepted Answer

Cerebral edema

Answer

Cardiac arrhythmia

Answer

Acute kidney injury

Answer

Acute respiratory distress syndrome

Question 3

Which of the following is not true in Turner Syndrome?

Accepted Answer

Prominent occiput

Answer

Short 4th metacarpals

Answer

Webbed neck

Answer

Widely spaced hypoplastic nipples

Question 4

A female baby of 6 years presents with the features shown in image. All the following statements regarding this condition are true except:

Accepted Answer

Galactorrhea

Answer

GnRH analog is the drug of choice

Answer

Most common cause is constitutional

Answer

This condition is associated with McCune Albright syndrome

Question 5

A Lethargic hypoglycemic girl neonate has the following genital appearance. What is the probable cause? (Recent Neet Pattern 2016-17)

Accepted Answer

Congenital adrenal hyperplasia

Answer

Ovotesticular disorder of sexual differentiation

Answer

Turner syndrome

Answer

Klinefelter syndrome

Question 6

In a neonate with the following findings, what is the likely etiology of hypothyroidism? (NEET Pattern 2018)

Accepted Answer

Thyroid dysgenesis

Answer

Chronic lymphocytic thyroiditis

Answer

Thyroid dyshormonogenesis

Answer

None of above

Question 7

A 5-year-old girl presents with vaginal bleeding and thelarche. An X-ray shows multiple cysts in long bones, and she has multiple hyper-pigmented spots. This presentation is suggestive of McCune Albright syndrome. What type of precocious puberty is associated with this syndrome?

Accepted Answer

Peripheral precocious puberty

Answer

Central precocious puberty

Answer

Adrenal hyperplasia

Answer

Ovarian tumor

Question 8

The image shows a child with virilisation and clitoromegaly. What laboratory finding is typical for this condition, assuming the most common enzyme defect?

Accepted Answer

Increased urinary sodium

Answer

Low urinary sodium

Answer

Increased plasma cortisol

Answer

Increased aldosterone

Question 9

The following instrument is used for:

Accepted Answer

Hypogonadism

Answer

Hypothyroidism

Answer

Hypoadrenalism

Answer

Soto syndrome

Question 10

All of the following associations are seen with this syndrome except:

Accepted Answer

Hyper-convex finger nails

Answer

Recurrent bilateral otitis media

Answer

Pelvic kidney

Answer

Umbilical hernia

Endocrinology — MCQs

Endocrinology — MCQs

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