Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature

Abstract

Aim

To present a case report of a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. A review of the literature is included.

Materials and methods

A 20-year-old patient with classic galactosemia and premature ovarian insufficiency (POI) came to our attention. We performed a routine hormonal and ultrasound examination confirming low ovarian reserve. Due to low rates of pregnancies in individuals with POI (5%–10%), we were almost certain of the infeasibility of pregnancy.

Results

Surprisingly, several months after hospitalization, the patient conceived without any medical intervention and less than a year after the first birth she became pregnant again. While reviewing the literature, 90 pregnancies among galactosemic patients were identified.

Conclusions

Ovarian failure is a long-term diet-independent complication of classic galactosemia, pertaining to about 90% of affected individuals. This case confirms its unpredicted course, as even the presence of unfavorable factors (absence of spontaneous puberty, early diagnosis of POI, undetectable AMH) may not preclude the chance for conception.

伴有典型半乳糖血症的早发性卵巢功能不全患者连续两次妊娠及文献复习 摘要

目的：报道一例患有典型半乳糖血症和 Q188R/K285N GALT 突变的患者的病例报告, 尽管严重卵巢功能衰竭, 该患者仍自然受孕两次, 并进行文献回顾。

材料与方法：一名患有典型半乳糖血症和早发性卵巢功能不全（POI）的 20 岁患者引起了我们的注意。我们进行了常规激素和超声检查, 确认卵巢储备功能低下。由于 POI 患者的妊娠率较低（5%–10%）, 我们几乎可以肯定POI妊娠是不可行的。

结果：令人惊讶的是, 住院几个月后, 患者在没有任何医疗干预的情况下怀孕, 并且在第一次分娩后不到一年, 她再次怀孕。在查阅文献时, 确定了 90 例半乳糖血症患者的妊娠情况。

结论：早发性卵巢功能不全是典型半乳糖血症的长期与饮食独立相关的并发症, 影响了90% 的患者。该病例证实了其不可预测的过程, 因为即使存在不利因素（没有青春期发育、早期诊断 POI、检测不到 AMH）也不能排除受孕的机会。

Keywords:

• Premature Ovarian Insufficiency (POI)
• classic galactosemia
• pregnancy
• amenorrhea
• menopause

Disclosure statement

No potential conflict of interest was reported by the author(s).