一名患有阿尔斯特伦综合征的女性在受精后首次成功分娩：病例报告。
First live birth after fertilization in a woman with Alström syndrome: a case report.
作者信息
Carosso Andrea Roberto, Carosso Marco, Revelli Alberto, Canosa Stefano, Marozio Luca, Gennarelli Gianluca, Maffei Pietro, Ditaranto Serena, Benedetto Chiara
机构信息
Obstetrics and Gynecology 1U, Physiopathology of Reproduction and IVF Unit, Department of Surgical Sciences, Sant'Anna Hospital, University of Turin, Turin, Italy.
Gynecology and Obstetrics 1U, Departments of Surgical Sciences, University of Turin, Turin, Italy.
出版信息
Front Reprod Health. 2025 Jul 15;7:1585308. doi: 10.3389/frph.2025.1585308. eCollection 2025.
PURPOSE
Alström syndrome (AS) is an extremely rare, autosomal recessive genetic disorder. Fertility implications are particularly relevant for women affected by AS, and no cases of patients achieving pregnancy and live birth with fertilization (IVF) have been previously described. This case report describes the first worldwide live birth after IVF in a woman affected by AS.
METHODS
This case report describes the IVF procedure and pregnancy management of an infertile woman suffering from AS.
RESULTS
After two intracytoplasmic sperm injections (ICSI), combined with preimplantation genetic testing for aneuploidies (PGT-A), a euploid blastocyst was transferred, resulting in a clinical pregnancy. Gestation was complicated by gestational diabetes mellitus and chronic hypertension, which were well controlled by specific treatments. At 38 weeks of gestation, a healthy child of 3,110 g was born.
CONCLUSION
The successful outcome of this rare case suggests that IVF is feasible in the case of women with AS, but a multidisciplinary, continuous follow-up aimed at controlling comorbidity-linked complications is needed.
目的
阿尔斯特伦综合征（AS）是一种极其罕见的常染色体隐性遗传病。生育问题对受AS影响的女性尤为重要，此前尚无通过体外受精（IVF）实现妊娠和活产的病例报道。本病例报告描述了首例受AS影响的女性通过IVF实现全球首例活产的情况。
方法
本病例报告描述了一名患有AS的不孕女性的IVF过程及妊娠管理。
结果
经过两次卵胞浆内单精子注射（ICSI），并结合植入前非整倍体基因检测（PGT-A），移植了一个整倍体囊胚，实现了临床妊娠。妊娠期间并发妊娠期糖尿病和慢性高血压，通过特定治疗得到了良好控制。妊娠38周时，一名体重3110克的健康婴儿出生。
结论
这一罕见病例的成功结果表明，对于患有AS的女性，IVF是可行的，但需要多学科的持续随访，以控制与合并症相关的并发症。
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