First live birth after in vitro fertilization in a woman with Alström syndrome: a case report.

IF 2.9 Q2 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Frontiers in reproductive health Pub Date : 2025-07-15 eCollection Date: 2025-01-01 DOI:10.3389/frph.2025.1585308

Andrea Roberto Carosso, Marco Carosso, Alberto Revelli, Stefano Canosa, Luca Marozio, Gianluca Gennarelli, Pietro Maffei, Serena Ditaranto, Chiara Benedetto

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Abstract

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 in vitro 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.

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患有Alström综合征的妇女体外受精后第一次活产：一例报告。

目的：Alström综合征（AS）是一种极其罕见的常染色体隐性遗传疾病。生育影响与受AS影响的妇女特别相关，以前没有报道过通过体外受精（IVF）实现怀孕和活产的病例。本病例报告描述了世界上第一例受AS影响的妇女体外受精后的活产。方法：本病例报告描述了一例患有AS的不孕妇女的体外受精程序和妊娠管理。结果：经两次胞浆内单精子注射（ICSI），结合着床前非整倍体基因检测（PGT-A），移植整倍体囊胚，导致临床妊娠。妊娠期合并妊娠期糖尿病和慢性高血压，经特异性治疗控制良好。在妊娠38周时，一个3110克的健康婴儿出生了。结论：这一罕见病例的成功结果表明，体外受精在AS女性患者中是可行的，但需要多学科的持续随访，以控制合并症相关的并发症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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