Female Hormone Health, PCOS, Endometriosis, Fertility & Breast Cancer | Dr. Thaïs Aliabadi
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Diagnosis and Underdiagnosis of PCOS and Endometriosis
Table of contents
• Diagnosis and Underdiagnosis of PCOS and Endometriosis • Understanding PCOS: Criteria and Phenotypes • The Role of Insulin Resistance and Inflammation • Diagnostic Challenges for PCOS in Adolescents • Treatment and Management of PCOS • Endometriosis Pathophysiology and Diagnosis • Treatment Options for Endometriosis • Fertility, Egg Quality, and Preservation • Breast Cancer Risk and Screening • The Need for Reform in Women's Health Care Delivery • Mental Health and Hormonal Disorders in Women • Lifestyle Interventions and Supplements in Women's Hormonal HealthDr. Thaïs Aliabadi underscored the striking underdiagnosis of the two leading causes of female infertility: polycystic ovary syndrome (PCOS) and endometriosis. Despite their high prevalence, she highlighted that over 90% of women with these conditions remain undiagnosed due to a combination of overlooked symptoms, medical dismissals, and a healthcare system that often normalizes women's pain and hormonal complaints. She likened this predicament to a cataract patient repeatedly told they have no problem, illustrating the frustration and suffering many women face.
The complexity is aggravated by the heterogeneous presentations of PCOS and the difficulty in recognizing endometriosis without invasive procedures. Dr. Aliabadi stressed the necessity for earlier and more precise diagnostics, including hormonal assessments like AMH and routine pelvic ultrasounds, which many gynecologists surprisingly do not perform as part of standard care. She advocates for empowering women to recognize their symptoms and seek appropriate screenings to prevent fertility complications from progressing undetected.
Understanding PCOS: Criteria and Phenotypes
PCOS is identified as the most common hormone disorder among women of reproductive age, affecting approximately 15% to over 20% of women depending on the population. Diagnosis requires meeting two out of three criteria: clinical or biochemical hyperandrogenism (manifested as acne, hair thinning, or hirsutism), ovulatory dysfunction (usually irregular or absent periods), and polycystic ovarian morphology on ultrasound or elevated AMH levels.
Dr. Aliabadi explained that PCOS is multifaceted, with four recognized phenotypes exhibiting different combinations of these symptoms, including variants where women may ovulate occasionally or have regular menstruation yet still display other PCOS characteristics. This phenotypic diversity complicates diagnosis and contributes to many clinicians missing the condition, especially when symptoms like irregular periods or androgen excess are mild or atypical.
The Role of Insulin Resistance and Inflammation
Central to PCOS pathology is insulin resistance, present in approximately 80% of PCOS patients. Insulin resistance exacerbates androgen production by the ovarian theca cells, which suppresses follicular development and ovulation. Dr. Aliabadi described insulin as a hormone designed to facilitate glucose uptake; in resistance, cells fail to respond adequately, leading to elevated blood insulin that in turn worsens ovarian androgen secretion.
She stressed that insulin resistance drives a vicious cycle by reducing sex hormone-binding globulin, increasing free androgens, and promoting fat storage—particularly harmful visceral fat that releases inflammatory cytokines. This inflammation further disrupts metabolic and ovarian function, deepening the hormonal imbalances and reproductive issues seen in PCOS. Addressing insulin resistance is thus a core therapeutic goal to ameliorate PCOS symptoms and improve fertility.
Diagnostic Challenges for PCOS in Adolescents
In teenagers, diagnosing PCOS is especially challenging because menstrual irregularity and polycystic ovarian morphology on ultrasound can be normal developmental phenomena during puberty. Dr. Aliabadi emphasized caution to avoid overdiagnosis in this group, recommending that criteria based on ultrasound and AMH should not be applied to adolescents without ovulatory dysfunction and androgen excess symptoms.
She highlighted the importance of individualized clinical judgment, focusing on persistent and severe symptoms such as painful or irregular periods, acne refractory to standard treatments, and mood disorders. Rather than labeling teenagers too early, the approach includes monitoring and treating symptoms conservatively while paying close attention to their metabolic and reproductive health status.
Treatment and Management of PCOS
Effective PCOS management demands a multifactorial approach tackling the underlying hormonal and metabolic abnormalities rather than solely treating symptoms. Dr. Aliabadi stressed that birth control pills, while helpful for regulating menstruation and controlling androgenic symptoms, address only part of the problem and are not a cure. Instead, treatment typically focuses on improving insulin sensitivity through lifestyle interventions like diet and exercise, and pharmacological agents such as metformin or GLP-1 receptor agonists.
She noted that GLP-1 agonists, originally developed for diabetes treatment, have transformed weight management and insulin regulation in PCOS patients since 2014. By enhancing insulin sensitivity and regulating appetite, these medications help break the cycle of metabolic dysfunction and bring hormonal balances closer to normal. Supplements like inositol and vitamin D also play a supportive role by improving insulin action with fewer side effects. Hormonal therapies, ovulation induction agents like letrozole and clomiphene, and appropriate supplementation can improve ovulatory function and enhance fertility prospects.
Endometriosis Pathophysiology and Diagnosis
Endometriosis involves the growth of uterine-like tissue outside the uterine cavity, commonly on the ovaries, fallopian tubes, and pelvic peritoneum. Dr. Aliabadi described how these ectopic endometrial implants cyclically bleed in response to ovarian hormones, causing internal inflammation, scarring, pain, and fertility disruption. Despite its prevalence, estimates likely underreport true numbers due to prolonged diagnostic delays averaging 9-11 years in many cases.
Clinically, she emphasized that painful periods, deep dyspareunia (pain with sexual intercourse), chronic pelvic pain, recurrent urinary tract infections with negative cultures, and gastrointestinal symptoms are hallmark manifestations often dismissed as normal female physiology. There is currently no definitive non-invasive test for endometriosis, so diagnosis primarily depends on detailed symptom history and invasive laparoscopy for lesion visualization and excision, which remains the gold standard.
Treatment Options for Endometriosis
Dr. Aliabadi elaborated on the importance of hormonal suppression to control endometriosis by either reducing estrogen stimulation or increasing progesterone exposure. First-line medical therapies involve combined or progesterone-only contraceptives and progestin-releasing intrauterine devices, which stabilize ectopic tissue. For patients with severe symptoms, GnRH antagonists can induce a temporary hypoestrogenic state to alleviate pain but come with side effects such as bone density loss.
Surgical excision of endometriotic lesions is often required for definitive management, especially in advanced-stage disease or refractory cases. However, she highlighted that only a small portion of gynecologists have the specialized expertise to perform comprehensive laparoscopic resection effectively without missing subtle stromal endometriosis, which can produce significant pain despite minimal visible lesions. Postoperative hormonal suppression is critical to prevent recurrence. Importantly, symptom severity does not always correspond with disease stage, requiring individualized care.
Fertility, Egg Quality, and Preservation
The podcast addressed the natural decline of ovarian reserve and egg quality over time, amplified by PCOS and endometriosis. Dr. Aliabadi stated that while women are born with a finite egg count that decreases with age, PCOS patients may have abnormally high follicle numbers on ultrasound but poor egg quality, while endometriosis leads to diminished egg quantity and quality through ovarian damage and inflammation.
She strongly advocated early fertility assessment using Anti-Mullerian Hormone (AMH) measurement and encouraged young women with risk factors or symptoms to consider fertility preservation through egg freezing ideally before age 30. Egg freezing later in life, especially after 35, is less effective and more costly due to reduced ovarian reserve and egg quality. Empowering women with this knowledge enables better reproductive planning and can alleviate the emotional and financial burden of late fertility interventions.
Breast Cancer Risk and Screening
Dr. Aliabadi emphasized that breast cancer is an urgent public health concern with an average lifetime risk in women of approximately 12.5%. She advocated for widespread awareness of individualized breast cancer risk assessment through tools like the Tyrer-Cuzick model available online, which integrates personal factors such as family history, breast density, reproductive history, and genetic data.
Women with a calculated lifetime risk above 20% should initiate breast screening at earlier ages, incorporating mammography, ultrasound, and MRI when appropriate to detect cancer early. Genetic cancer testing is also critical for those with family histories or other risk markers. Dr. Aliabadi shared her personal story of early-stage breast cancer discovered following risk assessment, underlining the need for vigilance beyond standard screening guidelines and proactive health advocacy.
The Need for Reform in Women's Health Care Delivery
A major theme was the structural challenges within women's healthcare that contribute to poor outcomes. Dr. Aliabadi argued for separating obstetrics from gynecology to allow physicians to specialize and provide better care. Delivering babies is physically and emotionally demanding, often leaving clinicians exhausted and with inadequate time to address the complexities of gynecological diseases like PCOS and endometriosis.
She pointed out that many gynecologists lack sufficient training or time to perform pelvic ultrasounds or advanced laparoscopic surgeries, leading to misdiagnosis and inadequate treatment. Redesigning care delivery to ensure adequate attention, education, and resources for women's reproductive health would greatly improve diagnostic rates, patient education, and quality of life.
Mental Health and Hormonal Disorders in Women
The conversation recognized the high prevalence of mood disorders among women with hormonal imbalances like those caused by PCOS, endometriosis, and menopause-related changes. Dr. Aliabadi linked symptoms of anxiety, depression, and mood swings to hormonal disruptions, chronic pain, body image issues, and the biopsychosocial stresses women endure, particularly when their symptoms are dismissed.
In conditions like premenstrual dysphoric disorder (PMDD), a severe form of PMS, women can experience debilitating mood fluctuations that severely impact relationships and daily functioning. Treatment includes both hormonal management and targeted psychiatric therapies such as selective serotonin reuptake inhibitors (SSRIs), often given cyclically to match symptom patterns. Addressing mental health concomitantly with hormonal health is essential for holistic care.
Lifestyle Interventions and Supplements in Women's Hormonal Health
Throughout the discussion, lifestyle modifications emerged as fundamental pillars in managing reproductive and hormonal health. Improvements in diet emphasizing reducing processed carbohydrates, increasing protein intake, regular physical activity including resistance and high-intensity exercise, stress reduction, and optimizing sleep were highlighted as core strategies to improve insulin sensitivity, reduce inflammation, and positively influence hormonal balance.
Dr. Aliabadi also advocated supplements as adjuncts that can influence metabolic and reproductive function, notably inositol for insulin sensitivity, coenzyme Q10 and L-carnitine for egg quality, vitamin D to modulate insulin resistance, and anti-inflammatory plant-based compounds. She developed a supplement specifically tailored to address symptoms and enhance metabolic health in women with PCOS who struggle to access or tolerate pharmaceuticals. These combined approaches help restore hormonal equilibrium and fertility potential in a non-invasive manner.