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.