Laparoscopic ovarian tissue harvesting for cryopreservation from a child with galactosemia

Abstract

Objective: To describe an approach to fertility preservation by a multidisciplinary team of reproductive endocrinology and infertility, pediatric gynecology and surgery, and genetics experts via ovarian tissue harvesting and cryopreservation for a toddler with galactosemia. Galactosemia is associated with progressive primary ovarian insufficiency (POI) and early intervention with ovarian tissue cryopreservation may help preserve fertility.

Design: Video description of a tissue harvesting and cryopreservation technique.

Setting: Academic institution.

Patient(s): 16-month-old female with classic galactosemia.

Intervention(s): At 6 months of age, despite good metabolic control, the infant's antimüllerian hormone (AMH) level was <0.015 ng/ml; luteinizing hormone level was 3.1 mIU/ml; and follicle stimulating hormone level was 30.2 mIU/ml. She was referred by her geneticist to the reproductive endocrinology and infertility specialist for fertility preservation. The AMH levels and pelvic magnetic resonance imaging findings of the patient were monitored over the next 9 months. Although the magnetic resonance imaging exam showed the presence of a dominant follicle in the right ovary and multiple small antral follicles in both ovaries at the age of 8 months, her laboratory assessment at the age of 14 months suggested impending POI (estradiol level <11.80 pg/mL; LH, 3.3 mIU/ml; follicle stimulating hormone, 35.97 mIU/ml; AMH, 0.03 ng/mL). At 16 months of age, given the low AMH levels, right ovary was laparoscopically harvested, so that a sufficient reserve of primordial follicles may be cryopreserved for fertility preservation. We dissected the mesosalpinx initially to separate the ovary from the tube in a manner that minimized the effects of cauterization on the ovary and preserved the fallopian tube.

Main outcome measure(s): Successful harvesting and cryopreservation of the ovarian tissue containing primordial follicles.

Result(s): The right ovary, which measured 20 × 3 × 3mm, was bisected under a stereomicroscope along the hilum, trimmed to the cortical thickness of 1 mm and sliced into eight 4 × 4-mm pieces. These were then frozen with an established slow freezing protocol. The child was discharged the same day and had an uneventful postoperative course. A subsequent histological examination showed presence of primordial follicles, albeit at a reduced density for her age.

Conclusion(s): Ovarian tissue cryopreservation is feasible in very young female children with rare genetic disorders associated with POI. We illustrated the unique aspects of performing these procedures in very young children.

Keywords: Fertility preservation; galactosemia; ovarian tissue cryopreservation; prepubertal.