Question

A 17-year-old girl is seen for primary amenorrhea. There is no development of breasts or hair in the pubic or axillary region. Her height is 155 cm, and her weight is 48 kg. She has bilateral inguinal masses. The uterus, fallopian tube, and Ovary are absent on ultrasound examination. What is the most likely diagnosis?

• A. Complete androgen insensitivity syndrome
• B. Hypergonadotropic hypogonadism
• C. Turner syndrome
• D. Polycystic ovary syndrome

Answer 1

The Correct Option is B

To determine the most likely diagnosis for the given case of primary amenorrhea, we analyze the symptoms and findings: no breast development, absence of pubic/axillary hair, bilateral inguinal masses, and absent uterus, fallopian tubes, and ovaries on ultrasound. Let's evaluate each option:

• Complete androgen insensitivity syndrome: Characterized by normal breast development but scant or absent pubic/axillary hair due to androgen receptor issues, typically presenting with no uterus or ovaries and undescended testes. This could fit parts of the profile but does not explain the lack of breast development.
• Hypergonadotropic hypogonadism: This condition involves elevated levels of gonadotropins due to non-functional gonads, resulting in sexual immaturity, such as no breast or hair development, and often manifests with typical primary amenorrhea symptoms. The lack of uterus and ovaries aligns with this diagnosis, particularly in the absence of secondary sexual characteristics.
• Turner syndrome: Often presents with short stature and coarctation features, but patients usually have some development of secondary sexual characteristics and streak ovaries, differing from this case's absence.
• Polycystic ovary syndrome: Generally involves hirsutism and irregular menstruation, not complete absence of secondary sexual characteristics, nor structural absence on an ultrasound like in this scenario.

Based on the analysis, Hypergonadotropic hypogonadism is most consistent with the symptoms due to the absence of secondary sexual characteristics and the reported ultrasound findings.