Endocrine Abstracts

Introduction: Polycystic ovary syndrome (PCOS) is a multifaceted endocrine disorder traditionally classified into four phenotypes. A recently proposed hyper-/hypoandrogenic phenotype (HH-PCOS) falling under the D phenotype introduces additional complexity, emphasizing the spectrum of androgenic manifestations within this heterogeneous syndrome. This case report focuses on the complexities associated with PCOS diagnosis, particularly in the context of unconventional presentations especially when androgen levels are low.

Case Presentation: A 24 years old lady, with a history of Hashimoto thyroiditis and positive anti-TPO antibodies, presented with irregular menstrual cycles (five per year), a low BMI, Tanner 2 breast development, and halted puberty breast development. Laboratory findings revealed normal TSH, prolactin, follicular phase estradiol, an LH/FSH ratio of 1.46, elevated anti-Müllerian hormone (AMH), low testosterone, and high sex hormone-binding globulin (SHBG). Imaging showed a polycystic ovary appearance. A progesterone withdrawal test led to withdrawal bleeding, supporting presence of PCOS in contrary to functional component. The patient has a short history of living abroad with higher BMI, which was related to occurrence of acne in her face.

Discussion: While fulfilling Rotterdam criteria for PCOS, the case presented challenges due to conflicting hormonal indicators. Notably, the patient’s low testosterone and high SHBG levels deviated from the typical PCOS profile. Features resembling hyper-/hypoandrogenic PCOS (HH-PCOS), such as autoimmune markers and a lean BMI, were present. However, considering the patient’s low BMI and age, functional amenorrhea was also considered.

Conclusion: This case underscores the complexity of diagnosing PCOS, particularly in patients with atypical hormonal profiles and low BMI. The coexistence of lean PCOS and functional amenorrhea, or a unique PCOS variant, poses diagnostic challenges. The patient’s history of living abroad with a higher BMI and the occurrence of acne further complicate the clinical picture. Clinicians should be aware of nuanced presentations and consider alternative diagnoses when faced with conflicting hormonal evidence, such as low testosterone levels. This case highlights the need for individualized approaches in diagnosing and managing PCOS, especially when fertility is desired.