Mechanism for the development of ovarian cysts in patients with congenitallipoid adrenal hyperplasia

Objective: Although ovarian cysts commonly occur in patients with congenita l lipoid adrenal hyperplasia (CLAH), the mechanism of development remains t o be determined. To clarify the pathogenesis of the ovarian cysts, endocrin ological examinations were performed in patients with CLAH. Methods: The subjects were three Japanese CLAH patients. Basal body tempera ture, serum and urinary gonadotropin levels, serum and/or urinary ovarian h ormones and mutations of the steroidogenic acute regulatory protein (StAR) gene were examined. Results: The basal body temperature was not biphasic in any patient. Basal LH levels were high in all CLAH patients and markedly responded to LH-relea sing hormone In two patients. Urinary gonadotropin analysis revealed repeti tive LH surges in the menstrual cycles of the CLAH patients. No increase in the urinary pregnanediol suggested anovulation in all patients, and bilate ral ovarian cysts were found in two of the subjects. Examination of the StA R gene revealed a frameshift mutation 840delA at codon 238, a nonsense muta tion Q258X at codon 258, a homozygotic mutation at Q258X, and a compound he terozygotic mutation with 251insG and Q258X. Conclusions: We concluded that the development of ovarian cysts may be deri ved from continued anovulation in CLAH patients. Elevated LH levels may be explained by increased sensitivity of the anterior pituitary to circulating estrogen.