BackgroundIntrahepatic cholestasis of pregnancy (ICP) is a cholestasis condition caused by elevated levels of serum bile acids that mainly occurs in the third trimester of pregnancy. Maternal symptoms include pruritus; elevation of transaminases, biliary enzymes, and bilirubin levels; and abnormal liver function tests. Fetal symptoms include spontaneous preterm labor, fetal distress, and intrauterine death. It is more prevalent in the Caucasians and is rarely found in Asian countries, including Japan. The etiology of ICP has been reported as involving various factors such as, environmental factors, hormone balance, and genetic components. The genetic factors include single-nucleotide polymorphisms (SNPs) in the genes of canalicular transporters, including ABCB4 and ABCB11. It has also been reported that the combination of these SNPs induces severe cholestasis and liver dysfunction.Case presentationHere, we report for the first time a 24-year Japanese case of severe ICP diagnosed by typical symptoms, serum biochemical analysis, and treated with the administration of ursodeoxycholic acid which improved cholestasis and liver injury and prevented fetal death. The sequence analysis showed SNPs reported their association with ICP in the ABCB11 (rs2287622, V444A) and ABCB4 (rs1202283, N168N) loci.ConclusionThe risk of ICP has been reported to be population-specific, and it is rare in the Japanese population. Our case was successfully treated with ursodeoxycholic acid and the genetic sequence analysis has supported the diagnosis. Because genetic variation in ABCB4 and ABCB11 has also been reported in the Japanese population, we need to be aware of potential ICP cases in pregnant Japanese women although further studies are necessary.

CasesMicrodissection testicular sperm extraction (micro‐TESE) was performed on five Japanese men with non‐mosaic Klinefelter's syndrome (KS) and non‐obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non‐mosaic KS with the partial deletion of azoospermia factor (AZF)b. Because this is rare, it is reported in detail in the context of the previous literature. This case series describes the first experience of micro‐TESE by gynecologists in the current department.OutcomeThe egg collection date was adjusted to the micro‐TESE day by using the modified ultra‐long method. Intracytoplasmic sperm injection (ICSI) was implemented for two men whose spermatozoa were acquired by micro‐TESE, with these progressing to the blastocyst stage. Subsequently, one case conceived after the transfer of fresh embryos and a healthy baby was delivered. However, spermatozoa could not be retrieved from the man with non‐mosaic KS who was harboring the partial deletion of AZFb.ConclusionThese findings suggest that ovulation induction by using the modified ultra‐long method with micro‐TESE and ICSI on the same day represents an effective treatment option for men with non‐mosaic KS. As there are cases where AZF deletion is recognized among patients with non‐mosaic KS, screening before micro‐TESE is strongly recommended.

Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.