Wang Cheng-Zhi, Wei Qian, Guo Ling-Ling, Liu Hong-Yan, Guo Qing-Hua
Department of Endocrinology, The First Medical Center of PLA General Hospital, Beijing, 100853, China.
Neuro Endocrinol Lett. 2019 Dec;40(7-8):299-304.
Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease which results in hypopituitarism. Patients with PSIS often exhibit short stature due to their deficiency of growth hormone (GH).
Here, we present two rare cases of adults males with PSIS, in which the patients were of normal height and did not take any GH supplements. Sterility and multiple hormone deficiencies including GH were seen in both of them. Through whole exome sequencing of their DNA, we found novel mutations they shared, three in MUC4 (c.7815G>T, c.3548C>T, c.3399C>G) and one in NBPF10 (c.536C>A).
The present cases suggest that there are exceptions in GH deficient patients where a select few can attain normal heights without GH therapy. Genetic screening can be a predictor for prognoses of rare types of hypopituitarism.
垂体柄中断综合征（PSIS）是一种导致垂体功能减退的罕见先天性疾病。PSIS患者常因生长激素（GH）缺乏而身材矮小。
在此，我们报告两例罕见的成年男性PSIS病例，这两名患者身高正常且未服用任何GH补充剂。他们均出现不育以及包括GH在内的多种激素缺乏。通过对他们的DNA进行全外显子组测序，我们发现了他们共有的新突变，其中MUC4有三个（c.7815G>T、c.3548C>T、c.3399C>G），NBPF10有一个（c.536C>A）。
目前的病例表明，在GH缺乏的患者中存在例外情况，少数患者在不接受GH治疗的情况下也能达到正常身高。基因筛查可以作为罕见类型垂体功能减退预后的预测指标。
