Conn Jennifer J, Walsh Maie, Kane Stefan C, Hopkins Stephanie, Papalia Mary-Anne, Price Sarah A L
Department of Diabetes and Endocrinology, The Royal Melbourne Hospital, Parkville 3050, Australia.
Diabetes Service, Royal Women's Hospital, Parkville 3052, Australia.
JCEM Case Rep. 2025 Jul 30;3(9):luaf165. doi: 10.1210/jcemcr/luaf165. eCollection 2025 Sep.
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the gene. It is associated with a range of features including cystic renal disease, urogenital anomalies, and neurodevelopmental delay. Pregnancies in the presence of gene variants and deletions have a significant risk of adverse maternal and fetal outcomes. Accurate diagnosis allows for genetic counseling, individualized therapies, and reproductive testing options. We report the case of a woman who was recognized as having MODY5 in her first pregnancy. The fetus inherited the gene variant and developed renal tract anomalies incompatible with ex utero life. The woman underwent in vitro fertilization with preimplantation genetic testing for a monogenic disorder (preimplantation genetic testing for monogenic/single-gene defects) for her following pregnancy.
青年发病的成年型糖尿病5型（MODY5）是一种由该基因的变异和缺失引起的罕见单基因糖尿病形式。它与一系列特征相关，包括囊性肾病、泌尿生殖系统异常和神经发育迟缓。存在该基因变异和缺失时的妊娠有显著的母婴不良结局风险。准确诊断有助于进行遗传咨询、个体化治疗以及生殖检测选择。我们报告了一名女性病例，她在首次怀孕时被诊断为患有MODY5。胎儿继承了该基因变异并出现了与宫外生活不相容的泌尿道异常。该女性在接下来的妊娠中接受了针对单基因疾病的植入前基因检测（单基因/单基因缺陷植入前基因检测）的体外受精。
