Differential Diagnosis for a 27-year-old Lady with Irregular Bleeding, Weight Gain, Acne, and Increased Hair Growth

Single Most Likely Diagnosis

• Polycystic Ovary Syndrome (PCOS): This is the most likely diagnosis given the patient's symptoms of irregular bleeding, weight gain, acne, and increased hair growth in male areas (hirsutism). PCOS is a common endocrine disorder among women of reproductive age and is often associated with these symptoms.

Other Likely Diagnoses

• Thyroid Dysfunction: Both hypothyroidism and hyperthyroidism can cause menstrual irregularities and weight changes. Acne and hirsutism are less common but can occur, especially in hypothyroidism.
• Hyperprolactinemia: Elevated prolactin levels can lead to irregular menstrual periods, weight gain, and sometimes galactorrhea. While less common, it could also contribute to acne and hirsutism indirectly through its effects on other hormones.
• Cushing's Syndrome: Although rare, Cushing's Syndrome can cause weight gain, hirsutism, acne, and menstrual irregularities due to excess cortisol production.

Do Not Miss Diagnoses

• Androgen-Secreting Tumors: These are rare tumors that can produce excess androgens, leading to rapid onset of hirsutism, acne, and male pattern baldness. They are a medical emergency due to potential malignancy and the need for prompt surgical intervention.
• Congenital Adrenal Hyperplasia (CAH): A group of inherited disorders that affect the adrenal glands, leading to an imbalance in the production of sexual hormones. This can cause hirsutism, acne, and irregular periods. While rare, missing this diagnosis could lead to unnecessary fertility treatments and failure to address the underlying condition.

Rare Diagnoses

• Hyperandrogenism due to Idiopathic Insulin Resistance: A rare condition where insulin resistance leads to hyperandrogenism, causing symptoms similar to PCOS but without the typical insulin resistance seen in PCOS.
• Acromegaly: A disorder caused by excess growth hormone, leading to weight gain, skin changes, and potentially menstrual irregularities, though hirsutism and acne are less common presentations.

Investigations and Criteria for PCOS

For a diagnosis of PCOS, the Rotterdam criteria are commonly used, which require at least two of the following three features:

1. Oligo-ovulation or anovulation: Infrequent or absent ovulation, leading to irregular menstrual periods.
2. Clinical and/or biochemical signs of hyperandrogenism: Such as hirsutism, acne, or elevated androgen levels.
3. Polycystic ovaries on ultrasound: The presence of 12 or more follicles in each ovary, measuring 2-9 mm in diameter, and/or increased ovarian volume (>10 mL).

Fertility Treatment Options for PCOS

Treatment for PCOS-related infertility often involves:

1. Lifestyle modifications: Weight loss, if applicable, to improve insulin sensitivity and ovulation.
2. Medications to induce ovulation: Such as clomiphene citrate or letrozole.
3. Fertility drugs: Like gonadotropins for ovulation induction.
4. In vitro fertilization (IVF): For those who do not respond to other treatments or have other fertility issues.
5. Surgery: In some cases, laparoscopic ovarian drilling may be considered to stimulate ovulation.