Prevalence of functional hypothalamic amenorrhea in a cohort of women referred because of polycystic ovary syndrome

Reprod Med Biol. 2024 Jun 19;23(1):e12591. doi: 10.1002/rmb2.12591. eCollection 2024 Jan-Dec.

Abstract

In this unselected population of women referred to a center specialized in gynecologic endocrinology for suspicion of PCOS, a minimum rate of misdiagnosed FHA patients of about 2% was found. It is necessary to evaluate reliable markers for the differential diagnosis between PCOS and FHA to avoid incorrect treatment, which might lead to negative long-term effects in women with undiagnosed FHA.

Purpose: To study how many women are misdiagnosed with polycystic ovary syndrome (PCOS) instead of functional hypothalamic amenorrhea (FHA), which is important to improve overall well‐being, long‐term health, and fertility issues.

Methods: The FHA prevalence in a cohort of 401 women previously diagnosed with PCOS (revised Rotterdam criteria) was estimated retrospectively based on experts and previous studies: luteinizing hormone (LH) <2 IU/mL, LH <5.36 IU/mL, sex hormone binding globulin (SHBG) >53.3 nmol/L, Testosterone <0.36 ng/mL, and the formula of Beitl et al. [(7.05*testosterone ng/mL) − (0.005*SHBG nmol/L) + (0.117*LH mIU/mL) − 2.463 < 0].

Results: The highest rate of women with suspicion of FHA in patients referred for PCOS was found when the SHBG cut‐off of ≥53.3 nmol/L was used (36.9%), followed by the use of the LH cut‐off of <5.36 IU/mL (12.5%). The minimal suspected rate was achieved with the LH cut‐off <2.0 IU/mL (1.7%). Women who fulfilled the criteria for PCOS phenotype D (ovulatory dysfunction and polycystic ovarian morphology) revealed the maximum rate for suspected FHA (up to 47.6%).

Conclusion: It is still necessary to evaluate reliable markers for the differential diagnosis between PCOS and FHA to avoid incorrect treatment, which might lead to negative long‐term effects in women with undiagnosed FHA.