Results 11 to 20 of about 1,444,136 (141)

A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia [PDF]

Clinical Case Reports
Pituitary stalk interruption syndrome is a disease with multiple hormone deficiencies caused by pituitary stalk interruption. Identification of the pathogenic gene variant is helpful for early diagnosis.
Zhaoyang Ji, Wenyuan Duan, Jianbo Wu, Mengting Dai, Ping Chen, Jialu Luo, Mingzhi Xu   +6 more
doaj   +4 more sources

Clinical Features and Analysis in Pituitary Stalk Interruption Syndrome [PDF]

International Journal of Endocrinology
Objective. Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary.
Qiuxuan Guo, Jing Zhao, Shuang Yu
doaj   +4 more sources

Pituitary stalk interruption syndrome on MRI: Case report

Clinical Case Reports, 2023
Key clinical message Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits.
Romeo Thierry Yehouenou Tessi, Boris Adeyemi, Sihame El Msaadi, Siham El Haddad, Nazik Allali, Latifa Chat   +5 more
doaj   +3 more sources

Two Cases of Pituitary Stalk Interruption Syndrome in Syrian Children

Case Reports in Endocrinology, 2020
Pituitary stalk interruption syndrome (PSIS) is an extremely rare cause of growth failure and delayed puberty. It can be diagnosed by magnetic resonance imaging (MRI) of the hypothalamus and pituitary gland, showing an ectopic or absent posterior ...
Ibrahim Alali, Reem Saad, Younes Kabalan
doaj   +2 more sources

Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging.
Kyung Mi Jang, Cheol Woo Ko
doaj   +2 more sources

Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome

Case Reports in Endocrinology, 2021
Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized.
R. El Qadiry, A. Ouayad, H. Nassih, A. Bourrahouat, I. Ait Sab   +4 more
doaj   +2 more sources

Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature [PDF]

Radiology Case Reports, 2018
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its ...
Atif Nawaz, MBBS, FCPS-I, FRCR-I, Muhammad Azeemuddin, MBBS,MCPS,FCPS, Jehanzeb Shahid, MBBS,FCPS-I   +2 more
doaj   +3 more sources

[Late-onset pituitary stalk interruption syndrome (PSIS)]. [PDF]

Pan Afr Med J, 2016
Pituitary stalk interruption syndrome is a fairly common cause of the deficiency of Growth Hormone and hypopituitarism often revealed in the neonatal period and childhood. This observation illustrates the peculiarities of a late clinical onset of this syndrome.
Marmouch H, Graja S, Arfa S, Boubaker F, Khochtali I.   +4 more
europepmc   +5 more sources

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

JCRPE, 2020
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe.
Ziqin Liu, Xiaobo Chen
doaj   +2 more sources

Pituitary stalk interruption syndrome in Chinese people: clinical characteristic analysis of 55 cases. [PDF]

PLoS ONE, 2013
OBJECTIVE: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Due to the rarity of PSIS, clinical data are limited, especially in Chinese people. Herein,
Qinghua Guo, Yan Yang, Yiming Mu, Jvming Lu, Changyu Pan, Jingtao Dou, Zhaohui Lv, Jianming Ba, Baoan Wang, Xiaoman Zou, Lijuan Yang, Jinzhi Ouyang, Guoqing Yang, Xianling Wang, Jin Du, Weijun Gu, Nan Jin, Kang Chen, Li Zang, Bradley J Erickson   +19 more
doaj   +2 more sources