Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?

SOX2 突变引起的视隔发育不良的情况下的生长激素缺乏 ： 我们是否应该在过渡期内重新检查患者 ？

• 发表时间: Dec 2022 29
• 来源期刊: BMJ Case Rep
• DOI: 10.1136/bcr-2022-251897
• PMID: 36581364
• 文章类型: Case Reports
• 作者列表: Gasco V,Matarazzo P,De Sanctis L,Ghigo E

关键词: Congenital disorders; Pituitary disorders

Mesh: Humans; Child; Human Growth Hormone / therapeutic use; Hypopituitarism / diagnosis drug therapy genetics; Dwarfism, Pituitary / diagnosis drug therapy genetics; Pituitary Gland; Septo-Optic Dysplasia; Mutation; Growth Hormone / therapeutic use; SOXB1 Transcription Factors / genetics

Abstract

Gene mutations encoding transcription factors, including SOX2, have been associated with growth hormone deficiency (GHD) and abnormal pituitary development. Guidelines on GHD management in the transition period state that patients with genetic-based childhood-onset GHD can skip retesting due to a high likelihood of permanent GHD. We describe a case of septo-optic-dysplasia due to SOX2 mutation characterised by childhood-onset GHD, which showed a normal somatotropic function at the transition period. This case raises the opportunity to retest for GHD during the transition period, even in patients with a known genetic cause, in order to avoid inappropriate GH treatment.

摘要

编码转录因子的基因突变，包括SOX2在内，与生长激素缺乏（GHD）和垂体发育异常有关。过渡期GHD管理指南指出，基于遗传的儿童期发病GHD患者可以跳过重新测试，因为永久性GHD的可能性很高。我们描述了一例由于SOX2突变而导致的视隔发育不良，其特征是儿童期发作的GHD，在过渡时期表现出正常的促躯体功能。这个案例增加了在过渡期内重新测试GHD的机会，即使是已知遗传原因的患者，以避免不适当的GH治疗。