Polycystic Ovary Syndrome and Gender Identity

Abstract

Polycystic ovary syndrome (PCOS) is a common endocrinopathy affecting 46XX individuals of reproductive age. Cardinal features of PCOS include hyperandrogenism, irregular periods, and insulin resistance. Pathogenesis is unclear but likely involves hypothalamic, pituitary, or ovarian abnormalities leading to increased androgen production. In addition, alternative insulin signaling pathways are activated to preserve ovarian sensitivity to insulin while other "classical" tissues (e.g. liver, adipose, muscle) are insulin resistant. Treatment targets specific symptoms and the most common regimens include weight loss, metformin, oral contraceptives, anti-androgen compounds, and fertility treatments. Observations of individuals with gene mutations affecting androgen metabolism suggest that androgens may influence the development of gender identity. We reviewed studies exploring the relationship between gender identity and PCOS to further elucidate this relationship. Rates of PCOS in hormone-naïve transmasculine (TM) individuals appear to be higher than in the general population as cited by small, early studies using convenience samples and inconsistent criteria for PCOS. A more recent, larger study using established guidelines for PCOS did not show this to be true. Further, other studies show that although PCOS patients are less likely to identify with a traditional feminine gender scheme compared to age-matched peers, the prevalence of gender incongruence in PCOS patients is not higher than in the general population. Larger systematic studies with control groups using modern diagnostic criteria for both PCOS and gender incongruence are needed to clarify the relationship between PCOS and gender identity.

Keywords: PCOS; Polycystic Ovary Syndrome; gender dysphoria; gender identity; gender incongruence.

Figure 1

Steroid Hormone Synthesis Pathways. 21-Hydroxylase deficiency causes accumulation of 17-OH-P and androgens (androstenedione and testosterone), which can lead to virilization at birth. Gender-related behavior in cis-women with CAH may differ from unaffected individuals [3]. 5-alpha-reductase deficiency blocks production of DHT. This block is in part overcome at puberty – 46XY patients undergo masculinization and gender identity shifts to male even in individuals reared as females [20].

Figure 2

PCOS Symptoms. Physical signs of PCOS include obesity (disproportionately central), acne, hirsutism, acanthosis nigricans (hyperpigmentation in the skin folds which is a manifestation of insulin resistance). PCOS is also associated with irregular periods and increased risk of diabetes, cardiovascular disease and infertility. Multiple follicular cysts may be seen on ovarian ultrasound in PCOS.