American Board of Pathology (ABPath) 2025 – 400 Free Practice Questions to Pass the Exam

Adrenogenital syndrome, also known as congenital adrenal hyperplasia (CAH), is a condition caused by enzyme deficiencies in the steroidogenesis pathway, often affecting the adrenal glands. In females, this condition leads to excess production of androgens (male hormones) due to enzymatic blocks, resulting in the development of masculine traits. This can manifest as ambiguous genitalia at birth, where the external genitalia may not clearly appear as typically male or female due to excessive androgen exposure in utero.

Additionally, females with this syndrome can exhibit other signs of virilization, such as increased body hair, deepening voice, and changes in body composition during puberty. The severity of symptoms can vary based on the specific enzyme deficiency and the degree of androgen excess.

The other conditions mentioned are not directly linked to the development of ambiguous genitalia or early masculine traits in females. For instance, Conn's syndrome is characterized by hyperaldosteronism and primarily leads to hypertension and electrolyte imbalances without affecting sexual development. Cushing's syndrome results from excess glucocorticoids and primarily leads to symptoms related to metabolic disturbances rather than virilization. Addison's disease involves adrenal insufficiency, leading to fatigue, weight loss, and skin changes and does not