Polycystic Ovary Syndrome Expert

Patient's question:

Is there any doctor who can tell me how polycystic ovary syndrome is caused? I'm very confused. What is this? Why does this disease occur? Is it due to not paying attention to anything in daily life, or is there some other reason?

Doctor's answer:

(1) Etiology of the Disease
The exact cause of PCOS is still unclear. It is generally believed to be related to factors such as dysfunction of the hypothalamic-pituitary-ovarian axis, adrenal gland dysfunction, genetics, and metabolism. A small number of PCOS patients have sex chromosome or autosomal abnormalities, and some have a family history. Recent studies have identified certain genes (e.g., CYP11A, VNTR of the insulin gene) associated with PCOS, further confirming the role of genetic factors in the development of PCOS.
I. Genetic Factors
PCOS is a disease caused by autosomal dominant inheritance, X-linked (sex-linked) inheritance, or gene mutations. Most patients have a chromosomal karyotype of 46,XX, while some exhibit chromosomal abnormalities or mosaicism, such as 46,XX/45,XO; 46,XX/46,XXq and 46,XXq.
II. Adrenal Precocious Puberty Hypothesis
Chom (1973) proposed that PCOS originates from prepubertal adrenal disease. Specifically, when exposed to strong stress stimuli, the zona reticularis of the adrenal gland secretes excessive androgens, which are then converted to estone outside the gonads. This feedback mechanism disrupts the release rhythm of GRH-GH in the HP axis, leading to an elevated LH/FSH ratio. Subsequently, this results in increased androgen production in the ovaries, meaning that both the adrenal glands and ovaries contribute to hyperandrogenemia. Hyperandrogenemia within the ovaries causes capsule fibrosis thickening, inhibits follicular development and ovulation, leading to ovarian cystic enlargement and chronic anovulation.

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