Bolmasova A V, Melikyan M A, Gadzhieva Z Sh, Puchkova A A, Degtyareva A V, Peterkova V A
Endocrinology research center; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology.
Endocrinology research center.
Probl Endokrinol (Mosk). 2021 Jul 13;67(4):57-67. doi: 10.14341/probl12761.
Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare genetic diseases with a frequency of 1:50,000. Hypopituitarism in these syndromes is detected in from 13 to 56% of cases and depends on the size and location of the deleted segment.We have described a series of clinical cases of patients with congenital hypopituitarism due to deletions in chromosome 18. All children had a characteristic dysmorphic features and delayed mental and speech development. Within first months of life, patients developed muscular hypotension, dysphagia, and respiratory disorders. The patients had various congenital malformations in combination with hypopituitarism (isolated growth hormone deficiency and multiple pituitaryhormone deficiencies). In the neonatal period, there were the presence of hypoglycemia in combination with cholestasis.Hormone replacement therapy led to rapid relief of symptoms.Сhromosomal microarray analysis in 2 patients allowed us to identify exact location of deleted area and deleted genes and optimize further management for them.
先天性垂体功能减退是一种罕见疾病。它可由垂体的孤立先天性缺陷、基因突变（PROP1、PIT1）和染色体异常引起。18号染色体缺失（1型和2型德格鲁希综合征）是一组罕见的遗传疾病，发病率为1:50000。这些综合征中的垂体功能减退在13%至56%的病例中被检测到，这取决于缺失片段的大小和位置。我们描述了一系列因18号染色体缺失导致先天性垂体功能减退患者的临床病例。所有儿童都有特征性的畸形特征以及智力和语言发育迟缓。在生命的最初几个月内，患者出现肌张力减退、吞咽困难和呼吸障碍。患者存在各种先天性畸形并伴有垂体功能减退（孤立性生长激素缺乏和多种垂体激素缺乏）。在新生儿期，存在低血糖合并胆汁淤积的情况。激素替代疗法使症状迅速缓解。对2例患者进行的染色体微阵列分析使我们能够确定缺失区域和缺失基因的确切位置，并为他们优化进一步的治疗管理。
