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FMGE 2009 — Internal Medicine

Q: A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is:

Testicular feminization. Androgen Insensitivity Syndrome (also known as testicular feminization) is characterized by a phenotype where primary amenorrhea occurs in a girl with mature (Grade V) breast development but sparse or absent pubic and axillary hair (Grade II pubarche). In this condition, androgens are produced but their receptors are non-functional, leading to normal breast development through the peripheral conversion of androgens to estrogens while inhibiting androgen-dependent hair growth [3]. *Turner syndrome* - Characterized by gonadal dysgenesis [1], leading to primary amenorrhea and absent or rudimentary breast development (grade I thelarche). Patients typically present with characteristic physical features such as short stature [1], webbed neck, and coarctation of the aorta, which are not mentioned here. *Gonadal dysgenesis* - This is a broader term for abnormal development of the gonads [2], often leading to primary amenorrhea and lack of secondary sexual characteristics [1]. Unlike the described case, individuals with gonadal dysgenesis would not have mature breast development. *Mullerian agenesis* - Presents with primary amenorrhea due to the absence or hypoplasia of the uterus and upper vagina, but normal ovarian function. Patients with Mullerian agenesis would typically have normal breast development and normal pubic and axillary hair growth, as their androgen receptors are functional. [Practice more Internal Medicine PYQs on OnCourse]

1 Previous Year Questions with Answers & Explanations

Questions

All Subjects Biochemistry (1)Dental (1)Forensic Medicine (2)Internal Medicine (1)Obstetrics and Gynecology (1)Pathology (1)Pharmacology (1)Psychiatry (1)

A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is: