Endocrinology Practice Questions

Q: All of the following hormones can affect the growth of a child except?

Adrenocorticotropic Hormone (ACTH). **Explanation:** The growth of a child is a complex process regulated by a specific interplay of hormones. The correct answer is **ACTH (Adrenocorticotropic Hormone)** because it does not have a direct stimulatory effect on linear growth. In fact, if ACTH is produced in excess (as seen in Cushing’s Disease), it leads to an overproduction of cortisol, which is **potent inhibitor** of growth, causing premature closure of epiphyses and growth failure. **Analysis of Options:** * **Growth Hormone (GH):** This is the primary regulator of postnatal growth. It acts directly on tissues and indirectly by stimulating the liver to produce **IGF-1** (Insulin-like Growth Factor 1), which promotes chondrocyte proliferation at the epiphyseal plate. * **Insulin:** Insulin is a critical growth promoter, particularly during the **fetal period**. It has structural similarities to IGF-1 and promotes protein synthesis and cell division. Children with hyperinsulinism (e.g., infants of diabetic mothers) often show macrosomia (excessive growth). * **Thyroid Hormones (T3/T4):** (Though not an option, they are vital) They are essential for bone maturation and allow GH to exert its full effect. **NEET-PG High-Yield Pearls:** 1. **Fetal Growth:** Primarily regulated by **Insulin and IGF-2**. Growth Hormone (GH) plays a minimal role in utero. 2. **Postnatal Growth:** Primarily regulated by **GH, IGF-1, and Thyroid hormones**. 3. **Pubertal Growth Spurt:** Driven by the synergistic action of **GH and Sex Steroids** (Estrogen/Testosterone). 4. **Glucocorticoids:** While necessary for life, an excess of glucocorticoids (via ACTH) is always **growth-suppressive**.

Q: What is the most common cause of thyrotoxicosis in childhood?

Graves disease. **Explanation:** **Graves Disease (Option C)** is the most common cause of thyrotoxicosis in children and adolescents, accounting for over **90-95% of pediatric cases**. It is an autoimmune disorder caused by **Thyroid Stimulating Immunoglobulins (TSI)** that bind to and activate the TSH receptor, leading to excessive thyroid hormone production and thyroid hyperplasia. It is most frequently seen in adolescent girls, with a peak incidence between 11 and 15 years of age. **Why other options are incorrect:** * **Toxic nodular goiter (Option A) and Toxic adenoma (Option B):** These are common causes of hyperthyroidism in the elderly but are exceedingly rare in the pediatric population. They involve autonomous functioning nodules (Plummer disease) rather than a diffuse autoimmune process. * **Thyrotoxicosis factitia (Option D):** This refers to the intentional or accidental ingestion of exogenous thyroid hormone. While it must be considered in the differential diagnosis of suppressed TSH with low thyroglobulin levels, it is not a common cause in children. **High-Yield Clinical Pearls for NEET-PG:** * **Triad of Graves:** Hyperthyroidism, Diffuse Goiter, and Exophthalmos (though ophthalmopathy is often milder in children than in adults). * **Clinical Presentation:** Look for accelerated linear growth, advanced bone age, emotional lability, and declining school performance. * **Diagnosis:** Suppressed TSH, elevated Free T4/T3, and **diffuse** increased uptake on Radionuclide (Technetium-99m) scan. * **Treatment:** **Methimazole** is the first-line medical therapy. Propylthiouracil (PTU) is generally avoided in children due to the risk of severe hepatotoxicity.

Q: Which of the following statements is FALSE about McCune-Albright syndrome?

It is an inherited disorder.. **Explanation:** McCune-Albright Syndrome (MAS) is defined by a classic triad of **polyostotic fibrous dysplasia**, **café au lait spots**, and **hyperfunctioning endocrinopathies** (most commonly gonadotropin-independent precocious puberty). **Why Option A is the correct (False) statement:** McCune-Albright syndrome is **not an inherited disorder**. It is caused by a **sporadic, post-zygotic somatic mutation** in the *GNAS1* gene, which encodes the alpha subunit of the Gs stimulatory protein. Because the mutation occurs after fertilization, it results in **mosaicism** (a mix of normal and mutated cells). If the mutation were germline (inherited), it would be lethal to the developing embryo. **Why the other options are true:** * **Option B:** Bone abnormalities are a hallmark, specifically **polyostotic fibrous dysplasia**, where normal bone is replaced by fibrous tissue, leading to fractures and deformities (e.g., "Shepherd’s crook" deformity). * **Option C:** **Café au lait spots** in MAS are typically large, unilateral, and have irregular borders described as the **"Coast of Maine"** appearance (unlike the smooth "Coast of California" spots in Neurofibromatosis type 1). * **Option D:** **Precocious puberty** in MAS is **peripheral (GnRH-independent)**, caused by autonomous overactivity of the ovaries or testes. **High-Yield Clinical Pearls for NEET-PG:** * **Mutation:** Somatic mutation in *GNAS* gene → Constitutive activation of Adenylate Cyclase → Increased cAMP. * **Endocrinopathies:** Besides precocious puberty, patients may have hyperthyroidism, GH-secreting pituitary adenomas (acromegaly), or Cushing syndrome. * **Radiology:** Fibrous dysplasia shows a characteristic **"Ground-glass appearance"** on X-ray.

Q: The features of neonatal hypothyroidism include all EXCEPT:

Triangular facies with craniosynostosis. **Explanation:** The correct answer is **A (Triangular facies with craniosynostosis)** because these features are characteristic of **Antley-Bixler syndrome** or certain craniosynostosis syndromes, not neonatal hypothyroidism. In contrast, neonatal hypothyroidism is associated with a **large anterior fontanelle** and delayed closure of sutures, rather than premature fusion (craniosynostosis). **Analysis of Options:** * **Congestive Cardiac Failure (B):** While rare, severe untreated hypothyroidism can lead to myxedematous cardiomyopathy, bradycardia, and pericardial effusion, which may progress to high-output heart failure or circulatory collapse. * **Delayed Osseous Maturation (C):** This is a hallmark feature. Thyroid hormones are essential for bone mineralization. Radiographs often show the **absence of distal femoral epiphysis** (normally present at 36 weeks gestation), serving as a marker for intrauterine hypothyroidism. * **Goitre is Rare (D):** In the majority of cases (85%), neonatal hypothyroidism is caused by **thyroid dysgenesis** (aplasia, hypoplasia, or ectopic gland), where no goitre is present. Goitrous hypothyroidism is typically seen only in rarer dyshormonogenesis cases. **Clinical Pearls for NEET-PG:** * **Most common cause:** Thyroid dysgenesis (Ectopic gland is the most common specific type). * **Early signs:** Prolonged physiological jaundice, poor feeding, lethargy, and a "hoarse cry." * **Physical findings:** Umbilical hernia, macroglossia, and a large posterior fontanelle (>0.5 cm). * **Screening:** Best done between **48–72 hours** of life to avoid the physiological TSH surge. * **Treatment:** Levothyroxine (10–15 μg/kg/day) is the gold standard to prevent permanent intellectual disability.

Q: What is the best prenatal treatment for congenital adrenal hyperplasia (CAH)?

Dexamethasone. **Explanation:** The primary goal of prenatal treatment in Congenital Adrenal Hyperplasia (CAH), specifically the 21-hydroxylase deficiency variant, is to **prevent the virilization of a female fetus**. This is achieved by suppressing the fetal pituitary-adrenal axis, thereby reducing the production of adrenal androgens. **Why Dexamethasone is the Correct Answer:** Dexamethasone is the drug of choice because it is **not inactivated by the placental enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2)**. Unlike most other steroids, dexamethasone crosses the placenta in its active form, reaching the fetal circulation effectively to suppress fetal ACTH secretion. Treatment must be initiated early (before the 9th week of gestation) to be effective. **Why Other Options are Incorrect:** * **B. Betamethasone:** While it also crosses the placenta, Dexamethasone is the standard established protocol in clinical guidelines for CAH virilization prevention. * **C. Prednisolone & D. Hydrocortisone:** These are **extensively metabolized/inactivated** by the placental 11β-HSD2 enzyme into inactive forms (prednisone and cortisone, respectively). Consequently, they do not reach the fetus in sufficient concentrations to suppress the adrenal axis. **High-Yield Clinical Pearls for NEET-PG:** * **Timing:** Treatment must start as soon as pregnancy is confirmed (ideally by **6–7 weeks**) and before the onset of external genitalia differentiation (9 weeks). * **Indication:** Treatment is only indicated if the fetus is **female**. If genetic testing (CVS or NIPT) reveals a male fetus, treatment is discontinued. * **Side Effects:** Long-term prenatal dexamethasone is controversial due to potential maternal side effects (weight gain, striae) and concerns regarding the child's long-term cognitive development. * **Diagnosis:** The gold standard for postnatal diagnosis of 21-hydroxylase deficiency is an elevated **17-hydroxyprogesterone (17-OHP)** level.

Q: Which of the following statements about Hashimoto's thyroiditis in children is FALSE?

Surgery is the treatment of choice.. **Explanation:** **Hashimoto’s Thyroiditis (Chronic Lymphocytic Thyroiditis)** is the most common cause of acquired hypothyroidism in children and adolescents. 1. **Why Option B is False (Correct Answer):** Surgery is **not** the treatment of choice for Hashimoto’s thyroiditis. The management is primarily medical. If the patient is hypothyroid, the treatment of choice is **Levothyroxine (L-T4) replacement therapy**. Surgery is only indicated in rare circumstances, such as a very large goiter causing compressive symptoms (dysphagia or stridor) or suspicion of malignancy (e.g., papillary thyroid carcinoma). 2. **Analysis of Other Options:** * **Option A:** While it is the most common cause of goitrous hypothyroidism, it is relatively **uncommon in very young children** (infants and toddlers). The incidence peaks during adolescence, making it "uncommon" in the general pediatric population compared to adults. * **Option C:** There is a strong association with genetic disorders. Children with **Down syndrome, Turner syndrome, and Klinefelter syndrome** have a significantly higher risk of developing autoimmune thyroiditis. * **Option D:** Clinical features often include signs of hypothyroidism such as growth retardation, delayed bone age, cold intolerance, constipation, and a firm, non-tender goiter. **High-Yield Clinical Pearls for NEET-PG:** * **Antibodies:** Anti-thyroid peroxidase (Anti-TPO) and Anti-thyroglobulin (Anti-Tg) are the hallmark markers. * **Histology:** Characterized by lymphocytic infiltration and **Hurthle cells** (Askanazy cells). * **Hashitoxicosis:** A transient hyperthyroid phase may occur early in the disease due to the release of preformed thyroid hormones from follicular destruction. * **Association:** Often associated with other autoimmune conditions like Type 1 Diabetes and Celiac disease (APS Type 2).

Q: An infant presents with absence of a social smile, no eyebrows, and a protruded tongue. What is the most likely diagnosis?

Cretinism. **Explanation:** The clinical presentation of an infant with a **protruded tongue**, **absence of a social smile** (indicating developmental/mental delay), and **absence of eyebrows** (specifically the lateral third, known as Hertoghe's sign) is classic for **Cretinism** (Congenital Hypothyroidism). **1. Why Cretinism is Correct:** Congenital hypothyroidism leads to a generalized slowing of metabolic and developmental processes. The protruded tongue (macroglossia) occurs due to the accumulation of glycosaminoglycans. The absence of a social smile reflects the neurodevelopmental delay characteristic of untreated hypothyroidism. Thinning or absence of eyebrows is a specific dermatological sign of low thyroid hormone levels. **2. Why Other Options are Incorrect:** * **Down’s Syndrome:** While it presents with a protruded tongue and developmental delay, it is typically associated with specific dysmorphic features like up-slanting palpebral fissures, epicanthic folds, and a flat nasal bridge, rather than the loss of eyebrows. * **Mucopolysaccharidosis (e.g., Hurler Syndrome):** These patients have macroglossia and developmental delay, but they typically present with "coarse" facial features, hepatosplenomegaly, and corneal clouding, which are absent here. * **Rickets:** This is a disorder of bone mineralization. Key findings include craniotabes, rachitic rosary, and wide epiphyses, not macroglossia or loss of eyebrows. **Clinical Pearls for NEET-PG:** * **Most common cause:** Thyroid dysgenesis (Ectopic thyroid is the most common specific type). * **Earliest Sign:** Prolonged physiological jaundice. * **Other signs:** Hoarse cry, umbilical hernia, large posterior fontanelle, and constipation. * **Screening:** Best done via heel-prick test for TSH between 48–72 hours of birth.

Q: Which one of the following is not a feature of Turner syndrome?

Mental retardation. **Explanation:** Turner syndrome (45,X) is the most common sex chromosome abnormality in females. The hallmark of the condition is the absence of one X chromosome, which leads to gonadal dysgenesis and various somatic stigmata. **Why Mental Retardation is the correct answer:** Most individuals with Turner syndrome have **normal intelligence**. While they may experience specific learning disabilities (particularly in visuospatial processing, non-verbal memory, and mathematics), global intellectual disability or mental retardation is **not** a characteristic feature. If significant mental retardation is present, clinicians should investigate other chromosomal rearrangements or a ring X chromosome. **Analysis of incorrect options:** * **Short Stature (Option A):** This is the most consistent clinical finding (seen in >95% of cases). It is primarily due to the haploinsufficiency of the **SHOX gene** located on the pseudoautosomal region of the X chromosome. * **Coarctation of Aorta (Option C):** This is the most common specific cardiac malformation (found in ~15-20% of patients). Bicuspid aortic valve is the overall most common cardiac anomaly (~30%). * **Lymphedema (Option D):** Congenital lymphedema of the hands and feet is a classic neonatal presentation, caused by lymphatic hypoplasia. This often resolves with age but may leave behind "shield chest" or "webbed neck" (cystic hygroma remnants). **High-Yield Clinical Pearls for NEET-PG:** * **Karyotype:** 45,X is the most common; however, 50% are mosaics (e.g., 45,X/46,XX). * **Gonads:** "Streak ovaries" leading to hypergonadotropic hypogonadism (high FSH/LH, low Estrogen) and primary amenorrhea. * **Renal:** Horseshoe kidney is the most common renal anomaly. * **Screening:** Annual thyroid function tests (increased risk of Hashimoto’s) and blood pressure monitoring are essential.

Q: A six-year-old child underwent complete surgical removal of a craniopharyngioma and developed multiple endocrinopathies. Which of the following hormones should be replaced first?

Hydrocortisone. **Explanation:** In patients with panhypopituitarism (often following craniopharyngioma surgery), the sequence of hormone replacement is critical for patient safety. **Hydrocortisone (Glucocorticoids) must always be replaced first.** **Why Hydrocortisone is the priority:** The underlying medical concept is the prevention of an **Adrenal Crisis**. If thyroxine (T4) is administered before hydrocortisone, it increases the basal metabolic rate and accelerates the hepatic clearance of any remaining cortisol. In a patient with ACTH deficiency, this sudden metabolic demand can precipitate an acute, life-threatening adrenal crisis. Therefore, adrenal sufficiency must be established or treated before addressing other axes. **Analysis of Incorrect Options:** * **Thyroxine (C):** While essential for growth and metabolism, it must only be started *after* the patient is hemodynamically stable on glucocorticoids to avoid the "pseudotumor cerebri" effect or adrenal collapse. * **Growth Hormone (B):** GH replacement is never an emergency. It is typically started last, usually 6–12 months post-surgery, once the patient is stable and there is no evidence of tumor recurrence. * **Prolactin (D):** Prolactin is not routinely replaced in clinical practice; in fact, craniopharyngiomas often cause *hyperprolactinemia* due to stalk effect (loss of dopamine inhibition). **High-Yield Clinical Pearls for NEET-PG:** * **Rule of Thumb:** "Steroids before Thyroid." * **Craniopharyngioma:** Most common suprasellar tumor in children; derived from **Rathke’s pouch**. * **Post-op Complication:** Diabetes Insipidus (DI) is the most common immediate postoperative endocrine complication, but among the options provided for long-term replacement, steroids take precedence.

Question 1

All of the following hormones can affect the growth of a child except?

Accepted Answer

Adrenocorticotropic Hormone (ACTH)

Answer

Growth Hormone (GH)

Answer

Insulin

Answer

All

Question 2

What is the most common cause of thyrotoxicosis in childhood?

Accepted Answer

Graves disease

Answer

Toxic nodular goiter

Answer

Toxic adenoma

Answer

Thyrotoxicosis factitia

Question 3

Which of the following statements is FALSE about McCune-Albright syndrome?

Accepted Answer

It is an inherited disorder.

Answer

It is associated with bone abnormalities.

Answer

It is characterized by café au lait spots.

Answer

It can present with precocious puberty.

Question 4

The features of neonatal hypothyroidism include all EXCEPT:

Accepted Answer

Triangular facies with craniosynostosis

Answer

Congestive cardiac failure

Answer

Delayed osseous maturation

Answer

Goitre is rare

Question 5

What is the best prenatal treatment for congenital adrenal hyperplasia (CAH)?

Accepted Answer

Dexamethasone

Answer

Betamethasone

Answer

Prednisolone

Answer

Hydrocortisone

Question 6

Which of the following statements about Hashimoto's thyroiditis in children is FALSE?

Accepted Answer

Surgery is the treatment of choice.

Answer

Hashimoto's thyroiditis is uncommon in children.

Answer

Genetic disorders are risk factors for developing Hashimoto's thyroiditis in children.

Answer

Signs of hypothyroidism are seen.

Question 7

An infant presents with absence of a social smile, no eyebrows, and a protruded tongue. What is the most likely diagnosis?

Accepted Answer

Cretinism

Answer

Down's syndrome

Answer

Mucopolysaccharidosis

Answer

Rickets

Question 8

Which one of the following is not a feature of Turner syndrome?

Accepted Answer

Mental retardation

Answer

Short stature

Answer

Coarctation of aorta

Answer

Lymphedema

Question 9

A 5-year-old boy presents with peculiar facial features, enlarged head, hepatosplenomegaly, a protuberant abdomen, breathing difficulty with obstructive sleep apnea, and cardiac valve thickening. What is the likely diagnosis?

Accepted Answer

Hunter's disease

Answer

Hurler's disease

Answer

Fragile X syndrome

Answer

Tay-Sachs disease

Question 10

A six-year-old child underwent complete surgical removal of a craniopharyngioma and developed multiple endocrinopathies. Which of the following hormones should be replaced first?

Accepted Answer

Hydrocortisone

Answer

Growth hormone

Answer

Thyroxine

Answer

Prolactin

Endocrinology — MCQs

Endocrinology — MCQs

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