Related Experiment Video
Updated: Feb 24, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
Published on: March 5, 2022
A Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary
Emi Kondo1,2, Mika Makimura3, Kano Hayashi4
1Department of Obstetrics and Gynecology, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan.
Abstract:
We report a rare case of nonclassical 21-hydroxylase deficiency (NC21-OHD) diagnosed in adulthood after being misdiagnosed as polycystic ovary syndrome (PCOS) for 9 years. A 27-year-old Japanese woman presented with longstanding amenorrhea, hirsutism, and polycystic ovarian morphology on ultrasonography but did not exhibit withdrawal bleeding after standard estrogen/progestin (E/P) therapy. Hormonal evaluation revealed a low luteinizing hormone (LH) level, elevated testosterone (T), and a significantly increased 17α-hydroxyprogesterone level, which further increased following adrenocorticotropic hormone stimulation. Genetic analysis identified compound heterozygous mutations in the CYP21A2 gene (c.92C>T; c.293-13C>G), confirming the diagnosis of NC21-OHD. This case underscores the importance of considering NC21-OHD in adolescents and young adults with atypical PCOS features, such as severe hirsutism, abnormal hormonal profiles (low LH with markedly elevated T levels), and resistance to standard E/P therapy.
Related Concept Videos
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Oogenesis
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History

