Precocious and Delayed Puberty — MCQs
Estimation of which of the following will help in the diagnosis of a five-year-old boy who has precocious puberty along with a blood pressure of 130/80 mm Hg?
A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis
Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?
Absence of which of the given milestones in a 3 year old child should be called delayed development?
At what age (year) do arm span and height become the same?
Delayed puberty in a female is characterized by which of the following?
In Precocious puberty, the age limit for girls is?
Which of the following is true regarding precocious puberty:
Which is false in Congenital Hypopituitarism?
Which of the following ovarian tumors is associated with precocious puberty in young girls?
Precocious and Delayed Puberty Indian Medical PG Practice Questions and MCQs
Question 1: Estimation of which of the following will help in the diagnosis of a five-year-old boy who has precocious puberty along with a blood pressure of 130/80 mm Hg?
- A. Aldosterone
- B. DOCA
- C. 11-Deoxycortisol (Correct Answer)
- D. 17-Hydroxyprogesterone
Explanation: ***11-Deoxycortisol*** - The combination of **precocious puberty** and **hypertension** in a 5-year-old boy strongly suggests **11β-hydroxylase deficiency** CAH, where 11-deoxycortisol is the most specific diagnostic marker. - In 11β-hydroxylase deficiency, **11-deoxycortisol accumulates** due to impaired conversion to cortisol, making it the most diagnostically accurate test for this specific enzyme deficiency that causes both virilization and hypertension. *17-Hydroxyprogesterone* - While this is the standard **general screening test** for CAH, it may be **normal or only mildly elevated** in 11β-hydroxylase deficiency [1]. - It's more useful for diagnosing **21α-hydroxylase deficiency** (the most common CAH) but less specific for the 11β-hydroxylase deficiency suggested by this clinical presentation [1]. *Aldosterone* - **Aldosterone levels** are typically **suppressed** in 11β-hydroxylase deficiency CAH due to negative feedback from elevated mineralocorticoid precursors like **DOC**. - Elevated aldosterone would suggest **primary hyperaldosteronism**, which rarely causes precocious puberty in children. *DOCA* - **DOCA (11-deoxycorticosterone)** is indeed elevated in 11β-hydroxylase deficiency and directly causes the hypertension through its **mineralocorticoid activity** [1]. - However, **direct measurement of DOCA** is less commonly available and not routinely used as a first-line diagnostic test compared to 11-deoxycortisol.
Question 2: A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis
- A. Klinefelter's syndrome
- B. Kallman's syndrome (Correct Answer)
- C. Testicular infection
- D. Androgen Insensitivity Syndrome
Explanation: ***Kallman's syndrome*** - **Kallmann's syndrome** is characterized by **isolated hypogonadotropic hypogonadism**, meaning the hypothalamus fails to produce **GnRH**, leading to low LH and FSH, and consequently low testosterone, causing delayed puberty. - A key distinguishing feature is the association with **anosmia or hyposmia** (impaired sense of smell) due to abnormal migration of olfactory neurons and GnRH-producing neurons. *Klinefelter's syndrome* - This condition is characterized by **primary hypogonadism** (testicular failure) due to an extra X chromosome (47,XXY), leading to **high LH and FSH** in an attempt to stimulate the failing testes. - Although testosterone is low and puberty is delayed, the **elevated gonadotropins** differentiate it from Kallmann's syndrome. *Testicular infection* - An infection like **orchitis** can lead to testicular damage and *primary hypogonadism*, resulting in low testosterone. - However, similar to Klinefelter's, this would typically cause **elevated LH and FSH** due to the lack of negative feedback from the testes. *Androgen Insensitive syndrome* - In **Androgen Insensitivity Syndrome (AIS)**, testosterone levels are typically **normal or even elevated**, but the body's cells are unable to respond to androgens due to defective receptors. - This condition presents with a female phenotype despite a 46,XY karyotype, and **gonadotropin levels (LH and FSH) are usually normal to high**, not decreased.
Question 3: Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?
- A. Kallmann syndrome
- B. Klinefelter's syndrome (Correct Answer)
- C. Constitutional delay
- D. DAX-1 gene mutation
Explanation: ***Klinefelter's syndrome*** - Klinefelter's syndrome is characterized by **primary hypogonadism**, meaning the testes themselves fail to produce testosterone [3]. This leads to **high FSH and LH** levels due to the lack of negative feedback from testosterone [2],[3]. - The presenting clinical picture of **low FSH, LH, and testosterone** indicates **central hypogonadism**, where the pituitary or hypothalamus is at fault, not the testes directly [2]. *Kallmann syndrome* - Kallmann syndrome is a form of **congenital hypogonadotropic hypogonadism** characterized by a failure of GnRH-producing neurons to migrate to the hypothalamus, leading to **low FSH, LH, and testosterone**. - It is often associated with **anosmia (loss of smell)**, which is a key diagnostic feature. *Constitutional delay* - **Constitutional delay of growth and puberty** is a common cause of delayed puberty, characterized by a temporary suppression of the GnRH pulse generator [1]. - This results in **low FSH, LH, and testosterone** that eventually normalize, and often has a family history of delayed puberty [1]. *DAX-1 gene mutation* - Mutations in the **DAX-1 gene (NR0B1)** are associated with **X-linked adrenal hypoplasia congenita (AHC)**, which often presents with central or **hypogonadotropic hypogonadism**. - This condition leads to **low FSH, LH, and testosterone** due to hypothalamic-pituitary dysfunction in addition to adrenal insufficiency.
Question 4: Absence of which of the given milestones in a 3 year old child should be called delayed development?
- A. Hopping on one leg
- B. Catching a ball reliably
- C. Drawing a square
- D. Feeding by spoon (Correct Answer)
Explanation: ***Feeding by spoon*** - The ability to **feed oneself with a spoon** is typically achieved by **15 to 18 months of age**, making its absence in a 3-year-old a sign of delayed development. - This milestone reflects both **fine motor coordination** and **self-help skills**. *Hopping on one leg* - **Hopping on one leg** is a gross motor skill usually developed between **4 and 5 years of age**, so a 3-year-old not yet doing this is within the normal developmental range. - This skill requires advanced **balance** and **coordination**. *Catching a ball reliably* - **Catching a ball reliably** typically emerges around **4 to 5 years of age**, as it requires good **hand-eye coordination** and **anticipation skills**. - A 3-year-old's inability to catch a ball reliably is not considered delayed. *Drawing a square* - The ability to **draw a square** is usually achieved by **4 to 5 years of age**, requiring fine motor precision and visuomotor integration. - At 3 years, children are more likely to be able to copy a **circle** or **vertical line**.
Question 5: At what age (year) do arm span and height become the same?
- A. 9
- B. 11 (Correct Answer)
- C. 13
- D. 15
Explanation: ***11*** - At approximately **11 years of age**, the arm span and height of an average individual become equal. - This equality is a **developmental milestone** often observed during childhood growth. *9* - At **9 years of age**, an individual's **arm span** is typically **less than their height**, as the extremities are still growing in proportion to the trunk. - The limbs are still developing, and the ratio of limb length to trunk length hasn't yet reached parity. *13* - By **13 years of age**, in most individuals, the **arm span generally exceeds the height**, especially during the adolescent growth spurt. - This is often a period of rapid growth where the limbs may grow faster than the trunk, leading to disproportion. *15* - At **15 years of age**, the **arm span typically continues to be greater than the height**, reflecting the fully developed adult proportions for most individuals. - Adult proportions, where arm span often slightly exceeds height, are typically established by this age.
Question 6: Delayed puberty in a female is characterized by which of the following?
- A. Menarche > 16 year (Correct Answer)
- B. FSH < 20 in 16 year
- C. Menarche occurring more than 1 year after breast budding
- D. No breast budding by age 10
Explanation: ***Menarche > 16 year*** - Delayed puberty is defined as the **absence of menarche by 16 years of age**, or the absence of any secondary sexual characteristics by age 13. - This option correctly identifies one of the key diagnostic criteria for delayed puberty in females. *No breast budding by age 10* - This is incorrect; the absence of **breast budding by age 13** is the accepted cutoff for delayed puberty. - Breast development typically begins between ages 8 and 13. *Menarche occurring more than 1 year after breast budding* - This is incorrect; menarche typically occurs within **2 to 3 years** of breast development. A delay of merely one year following breast budding is usually within normal limits. *FSH < 20 in 16 year* - This statement itself does not definitively characterize delayed puberty and requires more context. A **low Follicle-Stimulating Hormone (FSH)** level in a 16-year-old with delayed puberty would suggest a **hypogonadotropic hypogonadism**, whereas high FSH levels would indicate **hypergonadotropic hypogonadism** (e.g., primary ovarian failure). - The threshold of FSH < 20 is not a universal or standalone diagnostic criterion for delayed puberty.
Question 7: In Precocious puberty, the age limit for girls is?
- A. 8 years (Correct Answer)
- B. 10 years
- C. 9 years
- D. 11 years
Explanation: ***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.
Question 8: Which of the following is true regarding precocious puberty:
- A. Sexual maturity is attained early (Correct Answer)
- B. Mental function is increased
- C. Reproductive function is absent
- D. Body proportions remain unchanged
Explanation: ***Sexual maturity is attained early*** - **Precocious puberty** is defined by the development of secondary sexual characteristics significantly earlier than the average age. - This early onset of puberty means that affected individuals reach **sexual maturity** at a younger chronological age. *Mental function is increased* - Precocious puberty does not inherently lead to an increase in **mental function** or cognitive abilities. - While hormonal changes can influence mood and behavior, they do not enhance intelligence. *Reproductive function is absent* - Precocious puberty implies the premature activation of the **hypothalamic-pituitary-gonadal axis**, leading to the appearance of secondary sexual characteristics and, in many cases, the potential for **reproductive function**. - Girls, for example, can experience early menarche and boys can produce sperm, meaning fertility is not absent but rather accelerated. *Body proportions remain unchanged* - Precocious puberty often results in changes in **body proportions**, particularly due to the early closure of epiphyseal plates. - Although there is an initial growth spurt, the premature fusion of growth plates can lead to a shorter-than-average adult height.
Question 9: Which is false in Congenital Hypopituitarism?
- A. Hypoglycemia
- B. Growth hormone level < 7 ng/ml
- C. Baby small at birth (Correct Answer)
- D. Delayed puberty
Explanation: ***Baby small at birth*** - This statement is **false** because congenital hypopituitarism typically does not cause **intrauterine growth restriction** or a baby to be small at birth. - Growth hormone (GH) and other pituitary hormones are primarily involved in **postnatal growth**, so infants with this condition are usually of **normal size at birth**. *Hypoglycemia* - **Neonatal hypoglycemia** is a common and often severe manifestation of congenital hypopituitarism, especially due to **GH deficiency** and sometimes ACTH deficiency. - GH and cortisol play crucial roles in **glucose homeostasis**, and their deficiency leads to impaired gluconeogenesis. *Growth hormone level < 7 ng/ml* - A **peak growth hormone level of less than 7 ng/ml** in response to two provocative tests is a common diagnostic criterion for **growth hormone deficiency** in children. - This threshold indicates an inadequate secretion of GH essential for normal growth and metabolism. *Delayed puberty* - **Deficiency of gonadotropins** (LH and FSH) due to hypopituitarism prevents the normal onset and progression of puberty. - This results in features such as **absent or delayed secondary sexual characteristic**s and **incomplete pubertal development**.
Question 10: Which of the following ovarian tumors is associated with precocious puberty in young girls?
- A. Immature teratoma
- B. Granulosa cell tumor (Correct Answer)
- C. Dysgerminoma
- D. Krukenberg tumor
Explanation: ***Granulosa cell tumor*** - These tumors are **sex cord-stromal tumors** that can produce **estrogen**, leading to signs of precocious puberty in young girls, such as breast development and vaginal bleeding. - The excess estrogen can stimulate the development of **secondary sexual characteristics** prematurely. *Immature teratoma* - Immature teratomas are **germ cell tumors** consisting of immature embryonic tissues; while they can occur in children, they are not typically hormonally active or associated with precocious puberty. - They are more commonly associated with symptoms related to their **mass effect** or rupture. *Dysgerminoma* - Dysgerminomas are also **germ cell tumors** but are generally **non-hormonal** and do not typically cause precocious puberty. - They tend to be large and are generally associated with elevated **lactate dehydrogenase (LDH)**. *Krukenberg tumor* - A Krukenberg tumor is a **metastatic signet ring cell adenocarcinoma** to the ovary, usually from a gastric primary. - These tumors are not primary ovarian tumors and do not typically produce hormones that cause precocious puberty.
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