A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus

Abstract

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features including body asymmetry, relative macrocephaly, protruding forehead, and feeding difficulties. Previous descriptions of SRS focus on the management of specific issues in children. Herein, we present clinical and metabolic characteristics of an adult woman with SRS accompanied by gestational diabetes mellitus (GDM). Given the rare circumstances presented in our case, the emerging questions concerning the management of metabolic issues and fertility potential in adult SRS patient deserve more attention. Further, long-term follow up is essential to gain future insights into the natural history and optimal management in adulthood.

Chinese abstract

Silver-Russell综合征（SRS）是一种异质性疾病, 其特征在于严重的子宫内发育迟缓, 出生后生长迟缓和典型的畸形特征, 包括身体不对称, 相对头围偏大, 前额突出和进食困难。以前对SRS的描述侧重于对儿童特定问题的管理。在此, 我们介绍了患有SRS并伴有妊娠期糖尿病（GDM）的成年女性的临床和代谢特征。鉴于我们案例中出现的罕见情况, 成人SRS患者中代谢问题和生育能力管理的新问题值得关注。此外, 长期随访对于深入了解成年期自然史和最佳管理至关重要。

Keywords:

• Silver-Russell syndrome
• small for gestational age
• gestational diabetes mellitus
• metabolic disorders

Acknowledgements

We thank the patient for her cooperation.

Disclosure statement

The authors declare that they have no competing interests. The authors do not have any commercial or collaborative relationships that could be constructed as biased or inappropriate.