Results 21 to 30 of about 1,444,136 (141)

8138 Pituitary Stalk Interruption Syndrome (PSIS) in a patient with Isolated Hypogonadotropic Hypogonadism [PDF]

J Endocr Soc
Abstract Disclosure: A. Thomson: None. R. Osman: None. Pituitary Stalk Interruption Syndrome in a Patient with Isolated Hypogonadotropic Hypogonadism Pituitary Stalk Interruption syndrome (PSIS) is a rare cause of hypopituitarism, characterized by a radiologic constellation of thin or interrupted pituitary stalk ...
Thomson, A, Osman, R
europepmc   +2 more sources

The challenging diagnosis of pituitary stalk interruptionsyndrome: a case report [PDF]

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2023
Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality affecting thehypothalamic pituitary complex. It is characterized by a peculiar radiological triad which includes thin or interruptedpituitary stalk, hypoplasia or aplasia of ...
Aurora Lanzafame, Giorgia Pepe, Roberto Coco, Fabio Toscano, Mariella Valenzise, Malgorzata Wasniewska   +5 more
doaj   +2 more sources

OR06-6 Whole-Exome Sequencing of Patients with Pituitary Stalk Interruption Syndrome (PSIS) Reveals Probably Pathogenic Variants in Novel Candidate Genes.

J Endocr Soc, 2019
Background: Pituitary Stalk Interruption Syndrome (PSIS) is characterized by the presence of a thin or absent pituitary stalk, usually associated with an ectopic posterior pituitary, hypoplasia of the anterior pituitary and pituitary hormone deficiencies.
Correa F, Nakaguma M, Jorge A, Funari M, Lerario A, Carvalho L, Arnhold I, Mendonca B.   +7 more
europepmc   +2 more sources

Association between serum prolactin and anterior pituitary dysfunction in pituitary stalk interruption syndrome: a retrospective study of 155 patients from a large tertiary medical center in China [PDF]

BMC Endocrine Disorders
Background Pituitary stalk interruption syndrome (PSIS) is a rare hypothalamic-pituitary disorder causing progressive anterior pituitary deficiency. Subtle early symptoms and unreliable sex hormone levels in prepubertal patients complicate diagnosis of ...
Lei Fu, Yan Xiao, Deyue Jiang, Lingtong Ye, Yiming Mu, Zhaohui Lyu, Qinghua Guo   +6 more
doaj   +2 more sources

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene [PDF]

BMC Pediatrics
Background Culler-Jones syndrome (CJS)(OMIM: 615849) is a rare genetic disorder characterized by multiple anterior pituitary hormone deficiencies and variable polydactyly, caused by mutations in the GLI2 gene (OMIM: 165230).
Xuewen Yuan, Shanshan Chu, Wei Gu
doaj   +2 more sources

Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report

The Egyptian Journal of Radiology and Nuclear Medicine, 2023
Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations.
Loai Q. Mabreh, Aseel M. Al Rabab’ah
doaj   +2 more sources

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review

Frontiers in Endocrinology, 2023
BackgroundPituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS
Zhaoxiang Liu, Wenhui Zhao, Chenxiang Cao, Yanlei Wang, Luqi Xiao, Xiaojing Wang, Chenxi Jin, Jianzhong Xiao   +7 more
doaj   +3 more sources

Pituitary stalk interruption syndrome (PSIS) – a rare cause of short stature

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2015
Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2015; 5: 56 ...
M. S. A. Cooray, N. P. Somasundaram, T. Rajapakse, S. Dayaratne, H. Chandrasena   +4 more
doaj   +3 more sources

Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome [PDF]

Frontiers in Endocrinology, 2019
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome
Dongdong Wang, Mengmeng Zhang, Haixia Guan, Xiaoli Wang   +3 more
doaj   +2 more sources

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

PLoS ONE, 2023
Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging (MRI), as well in some cases ...
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey   +3 more
doaj   +2 more sources