What is the most likely diagnosis for a 17-year-old girl with primary amenorrhea (absence of menstruation), ambiguous genitalia at birth, excessive hair growth on her mother during pregnancy, history of fracture with minor trauma, tall stature, nodulocystic acne, clitoromegaly, and polycystic ovaries on ultrasound?

Differential Diagnosis

The patient's presentation of ambiguous genitalia at birth, clitoromegaly, nodulocystic acne, and ovaries with multiple cysts suggests a disorder of sex development (DSD) or an endocrine disorder. The following differential diagnoses are considered:

• Single most likely diagnosis + A. Aromatase deficiency: This condition is characterized by maternal virilization during pregnancy (abnormal hair growth on the mother's chin), ambiguous genitalia in the newborn, and the development of acne and clitoromegaly in the child. The presence of ovaries with multiple cysts and normal breast development (Tanner stage I) also supports this diagnosis.
• Other Likely diagnoses + F. Polycystic ovary syndrome (PCOS): Although PCOS is a common cause of ovarian cysts and acne, it typically presents later in life, and the presence of ambiguous genitalia at birth and clitoromegaly are not typical features. + D. Congenital adrenal hyperplasia (CAH): CAH can cause virilization and ambiguous genitalia in females, but the presence of normal pubic hair and the mother's virilization during pregnancy are more suggestive of aromatase deficiency.
• Do Not Miss + C. Kallmann syndrome: Although Kallmann syndrome is a rare condition characterized by hypogonadotropic hypogonadism and anosmia, it is essential to consider it in the differential diagnosis, as it can present with delayed puberty and primary amenorrhea. + B. Turner syndrome: Turner syndrome is a condition that affects females, characterized by short stature and gonadal dysgenesis. Although the patient's height is at the 95th percentile, it is essential to rule out Turner syndrome, as it can have variable presentations.
• Rare diagnoses + E. Mullerian agenesis: This condition is characterized by the absence or underdevelopment of the uterus and vagina. Although the patient has a normal uterus, Mullerian agenesis can be considered in the differential diagnosis, especially if there are any abnormalities in the pelvic ultrasound. However, the presence of ovaries with multiple cysts and clitoromegaly makes this diagnosis less likely.