A case of a pregnant woman with luteal insufficiency and a mutation in the beta-subunit of luteinizing hormone.

摘要

We report a case of a pregnant woman with luteal insufficiency and infertility associated with a variant luteinizing hormone (LH) beta-subunit and normal follicle-stimulating hormone (FSH) concentration. A 29-year-old woman presented to our hospital with infertility. Given the presence of low mid-luteal serum progesterone concentration and out-of-phase endometrial biopsy, luteal insufficiency was suspected. Several forms of treatment (clomiphene citrate therapy and human menopausal gonadotrophin therapy) were administered, but did not improve the patient's luteal insufficiency. However, administration of hCG during the luteal phase could distinctly improve the luteal insufficiency. She became pregnant after luteal support with progesterone. Sequence analysis of the patient's LH beta-subunit gene indicated heterozygosity for the point mutations Trp8 to Arg8 and Ile15 to Thr15 in the coding sequence. LH hypersecretion resembling that seen in polycystic ovary syndrome was observed. Serum concentrations of variant LH showed a more rapid increase in response to gonadotrophin-releasing hormone and reached a higher apparent value than did those of normal LH. Therefore, abnormal bioactivity and mistimed secretion of variant LH at mid-cycle may have a deleterious effect on the completion of oocyte maturation, ovulation, and subsequent corpus luteum function.