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.

中文翻译：

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腹腔镜下从患有半乳糖血症的儿童身上采集卵巢组织进行冷冻保存

 客观的

描述由生殖内分泌和不孕症、儿科妇科和外科以及遗传学专家组成的多学科团队通过卵巢组织采集和冷冻保存半乳糖血症幼儿的生育力保存方法。半乳糖血症与进行性原发性卵巢功能不全 (POI) 相关，早期干预卵巢组织冷冻保存可能有助于保留生育能力。

 设计

组织采集和冷冻保存技术的视频描述。

 环境

 学术机构。

 患者）

16 个月大的女性，患有典型的半乳糖血症。

 干预措施

6个月大时，尽管代谢控制良好，婴儿的抗苗勒管激素（AMH）水平仍<0.015 ng/ml；黄体生成激素水平为3.1 mIU/ml；卵泡刺激素水平为30.2mIU/ml。她的遗传学家将她转介给生殖内分泌和不孕不育专家以保留生育能力。在接下来的 9 个月内，我们对患者的 AMH 水平和盆腔磁共振成像结果进行了监测。尽管磁共振成像检查显示 8 个月时右侧卵巢存在优势卵泡，两侧卵巢存在多个小窦卵泡，但她 14 个月时的实验室评估表明即将发生 POI（雌二醇水平 <11.80 pg） /mL；LH，3.3mIU/ml；卵泡刺激素，35.97mIU/ml； 16月龄时，鉴于AMH水平较低，通过腹腔镜摘取右侧卵巢，以便冷冻保存足够的原始卵泡以保存生育能力。我们首先解剖输卵管系膜，将卵巢与输卵管分离，从而最大限度地减少烧灼对卵巢的影响并保留输卵管。

 主要观察指标）

成功收获并冷冻保存含有原始卵泡的卵巢组织。

 结果）

右侧卵巢尺寸为 20 × 3 × 3 毫米，在体视显微镜下沿肺门一分为二，将皮质厚度修整至 1 毫米，并切成 8 个 4 × 4 毫米的碎片。然后用既定的慢速冷冻方案将它们冷冻。孩子当天就出院了，术后一切顺利。随后的组织学检查显示原始卵泡的存在，尽管其密度相对于她的年龄有所降低。

 结论

对于患有与 POI 相关的罕见遗传性疾病的幼儿来说，卵巢组织冷冻保存是可行的。我们说明了在幼儿身上执行这些手术的独特之处。