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身材矮小:考虑垂体柄阻断综合征。

Short Stature: Think About the Pituitary Stalk Interruption Syndrome.

作者信息

Mniai El Mehdi, Bourial Abderrahim, Salam Siham, Mahi Mohamed, Rami Amal

机构信息

Radiology, Cheikh Khalifa International University Hospital, Mohammed VI University of Health Sciences, Casablanca, MAR.

Otolaryngology, Cheikh Khalifa International University Hospital, Mohammed VI University of Health Sciences, Casablanca, MAR.

出版信息

Cureus. 2023 Mar 2;15(3):e35700. doi: 10.7759/cureus.35700. eCollection 2023 Mar.

DOI:10.7759/cureus.35700
PMID:37012935
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10066793/
Abstract

Pituitary stalk interruption syndrome (PSIS) is an uncommon congenital defect of the pituitary gland. It is considered one of the rare endocrinal causes of abnormally short stature. Herein, we present a case of a four-year-old girl who consulted for short stature and delayed growth. The patient's history did not include any past medical or surgical pathology. Birth history revealed a full-term delivery with a breech presentation. Clinically, the patient had a small stature, beneath the third percentile. Magnetic resonance imaging findings, through a typical triad, were consistent with PSIS. We describe through this report, what we believe is a rare typical case of PSIS. This case was discovered in a young patient with pituitary dwarfism. We hope that the concise and synthesized structure of this case report will help physicians acquire the necessary reflexes to notice and diagnose the already underdiagnosed PSIS.

摘要

垂体柄阻断综合征(PSIS)是一种罕见的垂体先天性缺陷。它被认为是身材异常矮小的罕见内分泌原因之一。在此,我们报告一例4岁女童因身材矮小和生长发育迟缓前来就诊的病例。患者既往无任何内科或外科病史。出生史显示为足月臀位分娩。临床上,患者身材矮小,低于第三百分位。磁共振成像结果通过典型的三联征与PSIS相符。我们通过本报告描述了我们认为的一例罕见的典型PSIS病例。该病例在一名垂体性侏儒症年轻患者中被发现。我们希望本病例报告简洁综合的结构能帮助医生获得必要的反应,以注意并诊断出目前诊断不足的PSIS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/a22d93301d72/cureus-0015-00000035700-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/8cf0a07736ea/cureus-0015-00000035700-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/94f67b27937a/cureus-0015-00000035700-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/8540bc9bed6c/cureus-0015-00000035700-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/a22d93301d72/cureus-0015-00000035700-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/8cf0a07736ea/cureus-0015-00000035700-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/94f67b27937a/cureus-0015-00000035700-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/8540bc9bed6c/cureus-0015-00000035700-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/022b/10066793/a22d93301d72/cureus-0015-00000035700-i04.jpg

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本文引用的文献

1
Pituitary stalk interruption syndrome: A rare case report and literature review.垂体柄中断综合征:一例罕见病例报告并文献复习。
Medicine (Baltimore). 2020 Dec 11;99(50):e23266. doi: 10.1097/MD.0000000000023266.
2
Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms.垂体柄阻断综合征与肝脏改变:从临床特征到发病机制。
World J Gastroenterol. 2020 Nov 28;26(44):6909-6922. doi: 10.3748/wjg.v26.i44.6909.
3
DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.
内分泌疾病的诊断:垂体柄中断综合征:病因和临床表现。
Eur J Endocrinol. 2019 Nov;181(5):R199-R209. doi: 10.1530/EJE-19-0168.
4
Growth and Adult Height during Human Growth Hormone Treatment in Chinese Children with Multiple Pituitary Hormone Deficiency Caused by Pituitary Stalk Interruption Syndrome: A Single Centre Study.垂体柄中断综合征所致多种垂体激素缺乏的中国儿童生长激素治疗期间的生长及成人身高:一项单中心研究
J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):71-78. doi: 10.4274/jcrpe.galenos.2019.2019.0086. Epub 2019 Sep 2.
5
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.垂体柄阻断综合征:病因、临床表现、诊断及治疗
Curr Opin Pediatr. 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378.
6
Case of pituitary stalk transection syndrome ascertained after breech delivery.臀位分娩后确诊的垂体柄横断综合征病例。
J Obstet Gynaecol Res. 2016 Feb;42(2):202-5. doi: 10.1111/jog.12864. Epub 2015 Dec 3.
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Pituitary gland development and disease: from stem cell to hormone production.垂体腺的发育和疾病:从干细胞到激素生成。
Curr Top Dev Biol. 2013;106:1-47. doi: 10.1016/B978-0-12-416021-7.00001-8.
8
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.垂体柄中断综合征和孤立性垂体发育不良可能由全前脑相关基因的突变引起。
J Clin Endocrinol Metab. 2013 Apr;98(4):E779-84. doi: 10.1210/jc.2012-3982. Epub 2013 Mar 8.
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17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.垂体柄中断综合征患者的17q21.31微缺失
Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30.
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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.早期胚胎发育过程中的多重打击:双基因疾病与前脑无裂畸形
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