Polycystic ovarian disease, familial

A genetic form of polycystic ovarian syndrome

Polycystic ovarian disease, familial
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Irregular menstruation, hirsutism, acne, obesity
Complications	Infertility, type 2 diabetes, cardiovascular disease
Onset	Adolescence
Duration	Long-term
Types	N/A
Causes	Genetic predisposition
Risks	Family history, obesity
Diagnosis	Ultrasound, blood tests
Differential diagnosis	N/A
Prevention	N/A
Treatment	Lifestyle changes, medications, surgery
Medication	N/A
Prognosis	N/A
Frequency	Common
Deaths	N/A

Polycystic ovarian disease, familial is a hereditary form of polycystic ovary syndrome (PCOS), a common endocrine disorder affecting women of reproductive age. It is characterized by the presence of multiple cysts in the ovaries, hormonal imbalances, and a variety of clinical symptoms. Familial polycystic ovarian disease suggests a genetic component, where the condition is observed in multiple family members across generations.

Pathophysiology

The pathophysiology of familial polycystic ovarian disease involves complex interactions between genetic, hormonal, and environmental factors. The condition is associated with insulin resistance, which can lead to hyperinsulinemia. This, in turn, affects ovarian androgen production, leading to hyperandrogenism, a hallmark of PCOS. The genetic basis of familial polycystic ovarian disease is not fully understood, but it is believed to involve multiple genes that contribute to the susceptibility of developing the condition.

Clinical Features

Women with familial polycystic ovarian disease may present with a variety of symptoms, including:

• Irregular menstruation: Oligomenorrhea or amenorrhea due to anovulation.
• Hirsutism: Excessive hair growth in areas where men typically grow hair.
• Acne: Due to increased androgen levels.
• Obesity: Particularly central obesity, which can exacerbate insulin resistance.

Diagnosis

The diagnosis of familial polycystic ovarian disease is based on clinical criteria, laboratory tests, and imaging studies. The Rotterdam criteria are commonly used, requiring two of the following three features:

• Oligo- or anovulation.
• Clinical and/or biochemical signs of hyperandrogenism.
• Polycystic ovaries on ultrasound.

Management

Management of familial polycystic ovarian disease involves a combination of lifestyle modifications and medical treatments:

• Lifestyle changes: Weight loss through diet and exercise can improve insulin sensitivity and reduce symptoms.
• Medications:

 * Oral contraceptives to regulate menstrual cycles and reduce androgen levels.
 * Metformin to improve insulin sensitivity.
 * Anti-androgens such as spironolactone to reduce hirsutism and acne.

• Surgery: In some cases, laparoscopic ovarian drilling may be considered to induce ovulation.

Complications

Women with familial polycystic ovarian disease are at increased risk for several complications, including:

• Infertility due to anovulation.
• Type 2 diabetes due to insulin resistance.
• Cardiovascular disease due to associated metabolic abnormalities.

Genetic Considerations

Familial polycystic ovarian disease suggests a hereditary pattern, often observed in first-degree relatives. Genetic counseling may be beneficial for affected families to understand the inheritance patterns and risks for future generations.

Also see

• Polycystic ovary syndrome
• Endocrine disorders
• Insulin resistance
• Hirsutism

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