Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, 400012, India.
University Hospitals Coventry and Warwickshire (UHCW) NHS Trust, Coventry, England, UK.
Pituitary. 2022 Aug;25(4):645-652. doi: 10.1007/s11102-022-01243-x. Epub 2022 Jun 24.
There is limited data regarding Pituitary Stalk Interruption Syndrome (PSIS) from India. Moreover, the pathophysiological link between perinatal events and PSIS is unclear. We aim to elucidate the predictors of PSIS among patients with growth hormone deficiency (GHD) and perinatal events in PSIS by comparing cohorts of PSIS and genetically proven GHD without PSIS.
Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. Perinatal events, clinical anomalies, pituitary hormone deficiency, and imaging findings were recorded. We compared PSIS-isolated GHD (PSIS-IGHD) subgroup with GHRHR-IGHD and PSIS-combined pituitary hormone deficiency (PSIS-CPHD) subgroup with POU1F1/PROP1-CPHD.
PSIS patients (45 males, median age: 12.5 years) most commonly presented with short stature. At last follow-up (median age: 17.35 years), gonadal (during pubertal-age), thyroid and cortisol axes were affected in 81.6%, 62.5%, and 62.5%. 10/13 (77%) of PSIS children with initial IGHD diagnosis manifested hypogonadism during pubertal age. Male predominance, sporadic presentation, and clinical anomalies were significantly higher in both PSIS subgroups than in the respective genetic subgroups. Breech presentation was higher in PSIS-CPHD than POU1F1/PROP1-CPHD (44.4% vs 5.5%, p = 0.004). Neonatal hypoglycemia (22% vs. 0%, p = 0.05) and jaundice (42 vs. 5%, p = 0.004) were higher in PSIS-CPHD than PSIS-IGHD.
Later age at presentation and frequent hypogonadism were observed in our PSIS cohort. Male sex, sporadic presentation, clinical anomalies, and breech presentation predicted PSIS at presentation. Breech presentation in PSIS is likely due to stalk interruption rather than hormonal deficiency.
印度有关垂体柄中断综合征（PSIS）的数据有限。此外，围产期事件与 PSIS 之间的病理生理联系尚不清楚。我们旨在通过比较 PSIS 患者和具有 PSIS 的基因证实的生长激素缺乏症（GHD）患者的队列，阐明围产期事件与 PSIS 之间的预测因子。
在 179 名 GHD 患者中，纳入了 56 名 PSIS 和 70 名基因阳性 GHD（52-GHRHR、15-POU1F1 和 3-PROP1）患者。记录了围产期事件、临床异常、垂体激素缺乏和影像学发现。我们将 PSIS 孤立性 GHD（PSIS-IGHD）亚组与 GHRHR-IGHD 进行比较，将 PSIS 合并垂体激素缺乏（PSIS-CPHD）亚组与 POU1F1/PROP1-CPHD 进行比较。
PSIS 患者（45 名男性，中位年龄：12.5 岁）最常见的表现为身材矮小。在最后一次随访（中位年龄：17.35 岁）时，性腺（青春期）、甲状腺和皮质醇轴受影响的比例分别为 81.6%、62.5%和 62.5%。13 名（77%）最初诊断为 IGHD 的 PSIS 儿童在青春期出现性腺功能减退。男性为主、散发表现和临床异常在两个 PSIS 亚组中均明显高于相应的基因亚组。PSIS-CPHD 中臀位分娩的发生率高于 POU1F1/PROP1-CPHD（44.4%比 5.5%，p=0.004）。PSIS-CPHD 中新生儿低血糖（22%比 0%，p=0.05）和黄疸（42%比 5%，p=0.004）的发生率高于 PSIS-IGHD。
我们的 PSIS 队列观察到较晚的发病年龄和频繁的性腺功能减退。男性、散发表现、临床异常和臀位分娩是 PSIS 发病时的预测因素。PSIS 中的臀位分娩可能是由于垂体柄中断而不是激素缺乏引起的。
