Parkin Katherine, Kapoor Ritika, Bhat Ravindra, Greenough Anne
King's College London, Guy's King's and St Thomas School of Medicine, London, United Kingdom.
Department of Paediatric Endocrinology, King's College Hospital NHS Foundation Trust, London, United Kingdom.
Arch Med Sci. 2019 Dec 31;16(1):27-33. doi: 10.5114/aoms.2020.91285. eCollection 2020.
Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected. Importantly, neonates are often asymptomatic or present with non-specific symptoms. Hypopituitarism can be due to abnormal gland development as a result of genetic defects, which result from mutations in gene coding for transcription factors which regulate pituitary development. The mutations can be divided into those causing isolated hypopituitarism or those causing syndromes with associated hypopituitarism. The latter involve mutations in transcription factors which regulate pituitary, as well as extra-pituitary development. There is a paucity of evidence as to which patients should be investigated for genetic mutations, but detailed clinical and biochemical phenotyping with magnetic resonance imaging of the pituitary gland could help target those in whom genetic investigations would be most appropriate.
新生儿垂体功能减退症较为罕见，但如不治疗会引发危及生命的并发症。本综述描述了垂体功能减退症的特征以及应怀疑存在遗传病因的婴儿的相关证据。重要的是，新生儿通常无症状或表现出非特异性症状。垂体功能减退症可能是由于基因缺陷导致腺体发育异常，这些基因缺陷源于调节垂体发育的转录因子编码基因的突变。这些突变可分为导致孤立性垂体功能减退症的突变或导致伴有垂体功能减退症综合征的突变。后者涉及调节垂体以及垂体外发育的转录因子的突变。关于哪些患者应进行基因突变检测的证据很少，但详细的临床和生化表型分析以及垂体磁共振成像有助于确定最适合进行基因检测的人群。
