Abstract
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-Mullerian 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-Mullerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.
Highlights
Gorlin-Goltz syndrome, which is a neurodermal syndrome, was first reported by Gorlin and Goltz in 1960 [1]
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
In 1996, it was reported that the causative gene of nevoid basal cell carcinoma syndrome is the human homolog of the Drosophila patched gene PTCH1, which is a receptor of the hedgehog protein [5]
Summary
Gorlin-Goltz syndrome, which is a neurodermal syndrome, was first reported by Gorlin and Goltz in 1960 [1] It is called nevoid basal cell carcinoma syndrome [1] [2]. The diagnostic criteria for Gorlin-Goltz syndrome were proposed by Kimonis et al of the National Institutes of Health in the United States, and were composed of six major and six minor criteria (Table 1) [9] Among these criteria, the proportion of women aged 16 45 years with an ovarian fibroma ranged from 12.5% to 17.0% [7] [9]. One study reported the use of conservative treatment for recurrent ovarian fibromas in a 22-year-old patient with Gorlin-Goltz syndrome [10], and the other described a case of Gorlin-Goltz syndrome complicated with hydronephrosis due to a huge ovarian tumor [11]. We describe the patient’s treatment course and provide a literature review
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