Disorders of Puberty — MCQs
Delayed puberty is seen in -
An eight-year-old girl presented by her mother with sexual precocity. She may have the following disorder:
What is the primary reason puberty typically does not occur before the age of 8 years?
A five year old boy presents with precocious puberty and a Blood pressure of 130/80 mm Hg. Estimation of which of the following will help in diagnosis
A 16-year-old girl comes to you with primary amenorrhea; on evaluation there is absent breast development, she has a normal stature, her FSH and LH levels are found to be high and she has a karyotype of 46XX. What is the probable diagnosis?
Which of the following markers is not used in quadruple test for antenatal detection of Down syndrome?
What should be done next in an 18-year-old girl with primary amenorrhea, a karyotype of 45,X0, and an infantile uterus on ultrasound?
Delayed puberty in a female is characterized by which of the following?
Which of the following ovarian tumors is associated with precocious puberty in young girls?
A seven year old girl with precocious puberty is found to be having a 10 cm ovarian cyst on USG. The most likely etiology is
Disorders of Puberty Indian Medical PG Practice Questions and MCQs
Question 1: Delayed puberty is seen in -
- A. Hypothyroidism
- B. Turner's syndrome
- C. Chronic disease
- D. All of the options (Correct Answer)
Explanation: ***All of the options*** - Delayed puberty can be a symptom of multiple underlying conditions including **hypothyroidism**, **Turner's syndrome**, and **chronic diseases**. - All these conditions can interfere with the normal hormonal and developmental pathways required for timely pubertal onset. *Hypothyroidism* - **Thyroid hormones** are crucial for normal growth and development, including sexual maturation. - Insufficient thyroid hormone levels can lead to a general slowing of metabolic processes and thus **delayed puberty**. *Turner's syndrome* - This is a chromosomal disorder (45,XO) primarily affecting females, characterized by the absence of one X chromosome. - It often results in **gonadal dysgenesis** (poorly developed ovaries), leading to **primary ovarian failure** and a failure to produce sex hormones necessary for puberty. *Chronic disease* - Many chronic illnesses, such as **inflammatory bowel disease**, **cystic fibrosis**, **renal failure**, or **diabetes mellitus**, can cause **delayed puberty**. - This is often due to the overall physiological stress, chronic inflammation, nutritional deficiencies, and altered hormone metabolism associated with long-term illness.
Question 2: An eight-year-old girl presented by her mother with sexual precocity. She may have the following disorder:
- A. Addison's disease
- B. Neuroblastoma
- C. Hyperthyroidism
- D. McCune Albright syndrome (Correct Answer)
Explanation: ***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 3: What is the primary reason puberty typically does not occur before the age of 8 years?
- A. The hypothalamus does not secrete GnRH in a pulsatile manner (Correct Answer)
- B. Inadequate synthesis of gonadotropins by the pituitary
- C. Gonads are unresponsive to gonadotropin
- D. Positive feedback action of gonadal steroids on pituitary
Explanation: ***The hypothalamus does not secrete GnRH in a pulsatile manner*** - The onset of puberty is triggered by the **pulsatile secretion of gonadotropin-releasing hormone (GnRH)** from the hypothalamus. - Before age 8, the hypothalamus is **quiescent** and does not release GnRH in the frequent, high-amplitude pulses necessary to stimulate the pituitary and initiate puberty. *Inadequate synthesis of gonadotropins by the pituitary* - The pituitary gland itself is generally capable of synthesizing **gonadotropins (LH and FSH)** before puberty, but it requires stimulation by pulsatile GnRH. - The *primary issue* is the lack of hypothalamic GnRH pulse generation, not an inherent inability of the pituitary to produce gonadotropins in response to appropriate signaling. *Gonads are unresponsive to gonadotropin* - While the gonads are relatively inactive before puberty, they are generally *not unresponsive* to gonadotropins if sufficient levels were present. - The problem lies upstream in the **hypothalamic-pituitary axis**, as inadequate GnRH leads to low gonadotropin levels, which in turn leads to inactive gonads. *Positive feedback action of gonadal steroids on pituitary* - During puberty and adulthood, **gonadal steroids** exert both positive and negative feedback on the hypothalamus and pituitary. - Before puberty, there are typically very low levels of gonadal steroids, and the system is in a state of **negative feedback** (low sensitivity to inhibition) rather than the robust positive feedback seen later in development.
Question 4: A five year old boy presents with precocious puberty and a Blood pressure of 130/80 mm Hg. Estimation of which of the following will help in diagnosis
- A. 17 hydroxy - progesterone (Correct Answer)
- B. Cortisol
- C. 11-deoxycortisol
- D. Aldosterone
Explanation: ***17 hydroxy - progesterone*** - Precocious puberty with hypertension suggests a form of **congenital adrenal hyperplasia (CAH)**, specifically 11β-hydroxylase deficiency or 21-hydroxylase deficiency. - While **17-hydroxyprogesterone** is highly elevated in 21-hydroxylase deficiency, its levels also rise in 11β-hydroxylase deficiency due to the block in cortisol synthesis leading to increased ACTH stimulation. *Cortisol* - **Cortisol** levels are typically low or normal in CAH due to enzyme deficiencies blocking its synthesis, but measuring cortisol directly is not the primary diagnostic test. - The elevated blood pressure is due to accumulation of precursor steroids with mineralocorticoid activity, not directly due to high cortisol. *11-deoxycortisol* - **11-deoxycortisol** (compound S) is a precursor that accumulates specifically in **11β-hydroxylase deficiency**, leading to hypertension and precocious puberty. - While it's a key marker for this specific type of CAH, 17-hydroxyprogesterone is a broader initial screening marker as it is elevated in both 21-hydroxylase and 11β-hydroxylase deficiencies, which are the most common forms leading to these symptoms. *Aldosterone* - **Aldosterone** levels are usually low in both 21-hydroxylase and 11β-hydroxylase deficiencies, often contributing to salt wasting in the salt-wasting form of 21-hydroxylase deficiency. - Although the patient has hypertension, it is caused by the accumulation of other mineralocorticoid-like precursors, not elevated aldosterone.
Question 5: A 16-year-old girl comes to you with primary amenorrhea; on evaluation there is absent breast development, she has a normal stature, her FSH and LH levels are found to be high and she has a karyotype of 46XX. What is the probable diagnosis?
- A. Testicular feminizing syndrome
- B. Turner syndrome
- C. Kallmann syndrome
- D. Gonadal dysgenesis (Correct Answer)
Explanation: ***Gonadal dysgenesis*** - **Primary amenorrhea** with **absent breast development** and **high FSH/LH** (hypergonadotropic hypogonadism) in a **46,XX individual** with **normal stature** points to **46,XX gonadal dysgenesis** (pure gonadal dysgenesis). - In this condition, the gonads fail to develop properly despite a normal female karyotype, leading to non-functional streak ovaries that fail to produce estrogen, hence the lack of secondary sexual characteristics and elevated gonadotropins due to lack of negative feedback. - Unlike Turner syndrome, patients have normal stature and a normal 46,XX karyotype. *Testicular feminizing syndrome* - Individuals with **complete androgen insensitivity syndrome (CAIS)**, formerly called testicular feminizing syndrome, have a **46,XY karyotype** and develop external female characteristics due to complete androgen resistance. - They present with **primary amenorrhea** but typically have **well-developed breasts** (from peripheral aromatization of testosterone to estrogen) and a blind-ending vagina, which contradicts the absent breast development in this case. *Turner syndrome* - Characterized by a **45,X karyotype** (or variants with mosaicism) and typically presents with **short stature**, primary amenorrhea, and gonadal dysgenesis. - While it causes **primary amenorrhea** and **absent breast development** with high FSH/LH, the **normal stature** and **46,XX karyotype** in this patient rule out Turner syndrome. *Kallmann syndrome* - This condition is characterized by **hypogonadotropic hypogonadism** associated with **anosmia or hyposmia** due to defective GnRH secretion. - Patients present with **low FSH and LH levels**, which contradicts the **high gonadotropin levels** seen in this case.
Question 6: Which of the following markers is not used in quadruple test for antenatal detection of Down syndrome?
- A. Inhibin
- B. Estradiol (Correct Answer)
- C. AFP
- D. ss-hCG
Explanation: ***Estradiol*** - **Estradiol** is a primary **estrogen** produced by the ovaries and placenta but is **not** one of the four markers included in the **quadruple screen** for Down syndrome. - The quadruple screen typically measures levels of **alpha-fetoprotein (AFP)**, **unconjugated estriol (uE3)**, **human chorionic gonadotropin (hCG)**, and **inhibin A**. *Inhibin* - **Inhibin A** is one of the four components of the **quadruple screen** for Down syndrome. - In pregnancies affected by Down syndrome, inhibin A levels are typically **elevated**. *AFP* - **Alpha-fetoprotein (AFP)** is a key component of the **quadruple screen**. - In a Down syndrome pregnancy, maternal serum AFP levels are typically **lower** than normal. *ss-hCG* - **Beta-human chorionic gonadotropin (β-hCG)** is a specific subunit of hCG and is one of the four markers in the **quadruple screen**. - In pregnancies with Down syndrome, maternal serum β-hCG levels are usually **elevated**.
Question 7: What should be done next in an 18-year-old girl with primary amenorrhea, a karyotype of 45,X0, and an infantile uterus on ultrasound?
- A. Vaginoplasty
- B. Clitoroplasty
- C. B/L gonadectomy
- D. Hormone therapy to induce puberty (Correct Answer)
Explanation: ***Hormone therapy to induce puberty*** - The patient has **Turner syndrome (45,X0)**, which causes **gonadal dysgenesis** and thus a lack of **estrogen** and **progesterone** production, leading to primary amenorrhea and an infantile uterus. - **Hormone replacement therapy** with estrogen and progestin is essential to induce secondary sexual characteristics, promote uterine development, and achieve cyclical bleeding, which mimics puberty. *Vaginoplasty* - **Vaginoplasty** is a surgical procedure to create or lengthen the vagina, typically considered for conditions like **Mayer-Rokitansky-Küster-Hauser syndrome** where the vagina is absent or underdeveloped but ovaries are functional. - This patient has an infantile uterus, not vaginal agenesis as the primary issue, and the underlying problem is **hormonal deficiency**, not a structural one that would be addressed by vaginoplasty first. *Clitoroplasty* - **Clitoroplasty** is a surgical procedure to reduce the size of an enlarged clitoris, usually performed in cases of **ambiguous genitalia** or **congenital adrenal hyperplasia**. - There is no indication of clitoromegaly or ambiguous genitalia in this patient's presentation; her primary issue is the absence of puberty. *B/L gonadectomy* - **Bilateral gonadectomy** is indicated in patients with **Y chromosome material** and **gonadal dysgenesis** (e.g., Swyer syndrome or mixed gonadal dysgenesis) due to the high risk of **gonadoblastoma**. - While this patient has **gonadal dysgenesis** associated with **Turner syndrome**, she lacks a **Y chromosome**, meaning the risk of malignant transformation in her streak gonads is low, and therefore prophylactic gonadectomy is not typically performed.
Question 8: 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 9: 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.
Question 10: A seven year old girl with precocious puberty is found to be having a 10 cm ovarian cyst on USG. The most likely etiology is
- A. Choriocarcinoma
- B. Benign cystic teratoma
- C. Granulosa cell tumour (Correct Answer)
- D. Brenner tumour
Explanation: ***Granulosa cell tumour*** - This tumor is a common cause of **sexual precocity** in girls because it produces **estrogen**, leading to premature development of secondary sexual characteristics. - Granulosa cell tumors can grow to a significant size, like the **10 cm ovarian cyst** described, and are often malignant or borderline. *Choriocarcinoma* - Ovarian choriocarcinoma is a **highly malignant germ cell tumor** that typically secretes **human chorionic gonadotropin (hCG)**, not estrogen. - While it can cause precocious pseudopuberty by stimulating ovarian steroidogenesis through hCG, it is a very rare primary ovarian tumor. *Benign cystic teratoma* - These are **common germ cell tumors** that contain tissues from all three germ layers; however, they are usually **hormonally inactive** and do not typically cause precocious puberty. - While they can form large cysts, the presence of precocious puberty points away from this diagnosis. *Brenner tumour* - **Brenner tumors** are uncommon epithelial ovarian tumors that are typically **solid and benign**, though malignant forms exist. - They are generally **hormonally inactive** and do not cause precocious puberty; they also typically occur in older women.
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