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一名患有垂体柄重复和原发性空蝶鞍综合征的46岁女性的严重低钠血症

Severe Hyponatremia in a 46-Year-Old Female With Pituitary Stalk Duplication and Primary Empty Sella Syndrome.

作者信息

Alkhyeli Fatima, Boharoon Hessa, Almarzouqi Abdulla

机构信息

Medical Education, Sheikh Khalifa Medical City, Abu Dhabi, ARE.

Endocrinology, Sheikh Khalifa Medical City, Abu Dhabi, ARE.

出版信息

Cureus. 2023 Aug 21;15(8):e43851. doi: 10.7759/cureus.43851. eCollection 2023 Aug.

Abstract

Pituitary duplication is a rare congenital malformation. It has been mainly reported in the pediatric and neonatal population, with few reported cases in the adult population. In this case report, we discuss the presentation of an adult female patient with pituitary stalk duplication and primary empty sella (PES). A 46-year-old South Asian female presented with severe euvolemic hyponatremia. Initial investigation showed low serum osmolality, high urine osmolality, high urinary sodium concentration, and normal chest X-ray. On physical examination, the patient had underdeveloped secondary sexual characteristics. Laboratory tests showed low follicle-stimulating hormone, luteinizing hormone, and estradiol. Prolactin was moderately elevated, morning cortisol was low, adrenocorticotropic hormone (ACTH) was within the lower normal range, ACTH dynamic test was suboptimal, and insulin-like growth factor 1 was low. MRI showed empty sella with duplication of the pituitary stalk and third ventricle sagging. Pituitary stalk duplication is a rare congenital malformation that can be associated with other craniofacial abnormalities. Here, we describe the occurrence of pituitary stalk duplication with PES. It is not known if the two conditions are associated with each other. However, we speculate that the duplication of the stalk might have altered the normal anatomy of the aperture in the sellar diaphragm creating a space for the third ventricle to sag or herniate, as well as compressing the pituitary gland.

摘要

垂体重复是一种罕见的先天性畸形。主要在儿科和新生儿人群中有报道,成人病例报道较少。在本病例报告中,我们讨论了一名患有垂体柄重复和原发性空蝶鞍(PES)的成年女性患者的临床表现。一名46岁的南亚女性出现严重等容性低钠血症。初步检查显示血清渗透压降低、尿渗透压升高、尿钠浓度升高,胸部X线正常。体格检查发现患者第二性征发育不全。实验室检查显示促卵泡激素、促黄体生成素和雌二醇水平降低。催乳素中度升高,晨皮质醇水平低,促肾上腺皮质激素(ACTH)在正常范围下限,ACTH动态试验结果欠佳,胰岛素样生长因子1水平低。磁共振成像显示空蝶鞍伴垂体柄重复及第三脑室下垂。垂体柄重复是一种罕见的先天性畸形,可与其他颅面异常相关。在此,我们描述了垂体柄重复合并PES的情况。尚不清楚这两种情况是否相互关联。然而,我们推测垂体柄重复可能改变了鞍膈孔的正常解剖结构,为第三脑室下垂或疝出创造了空间,同时也压迫了垂体。

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