Table 1.

Summary of the studies of familial aggregation in PCOS.

Suggested inheritance	Diagnostic criteria	Phenotype in first-degree relatives	References
Autosomal dominant with variable penetrance	Oligomenorrhea, hirsutism, and (a) PCO	Women: oligomenorrhea and PCO	Cooper et al. [8]
X-linked	Oligomenorrhea, hirsutism, and PCO	Women: hyperandrogenism and metabolic disorders	Givens et al. [9, 10]
		Men: oligospermia and LH hypersecretion
Not determined	Hirsutism and/or oligomenorrhea	Women: infertility, oligomenorrhea, and hirsutism	Ferriman and Purdie [11]
Autosomal dominant	Menstrual dysfunction, hyperandrogenism, obesity, infertility, and PCO	Women: hyperandrogenic symptoms	Lunde et al. [12]
		Men: premature baldness and increased hairiness
Not determined	Menstrual irregularities, hirsutism, infertility, PCO, and obesity	Women: PCO	Hague et al. [13]
Monogenic	PCO	Women: PCO	Carey et al. [14]
		Men: premature baldness
Not determined	Elevated androgens, decreased SHBG, and PCO	Men: premature baldness, hypertriglyceridemia, and hyperinsulinemia	Norman et al. [15]
Not determined	NICHD	Women: Beta-cell dysfunction	Colilla et al. [16]
Monogenic	NICHD	Women: PCOS (NICHD), hyperandrogenemia, and insulin resistance	Legro et al. [17–19]
Not determined	NICHD	Women: PCOS (NICHD)	Kahsar-Miller et al. [20]
Not determined	NICHD	Women: PCOS (NICHD) and insulin resistance	Yildiz et al. [21]
		Men: insulin resistance

^(a) PCO: polycystic ovaries.