4th March 2024

A 21-year-old female presents to her GP with abnormal facial hair

A 21-year-old female presents to her GP with abnormal facial hair. Her mother recalls she began to develop pubic hair at five years old with oily skin and acne along her face and back. She was taller than many of her peers during primary school but is now shorter than most. She achieved menarche at the age of 13. During her adolescence, she developed significant treatment-resistant acne, hirsutism and irregular periods. She is of normal BMI, and ultrasound scans of her ovaries were normal. Blood tests reveal elevated levels of 17-hydroxyprogesterone at 250nmol/L ( normal <6nmol/L), increasing to 3400nmol/L after ACTH administration.

Which of the following could explain her clinical presentation?

Select the SINGLE most appropriate option from the list below. Select ONE option only.