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 DisordersBackground 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 +6 more
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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 +19 more
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Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development
JCI Insight, 2020 Pituitary developmental defects lead to partial or complete hormone deficiency and significant health problems. The majority of cases are sporadic and of unknown cause.
Emily J. Lodge +16 more
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Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. [PDF]
PLoS ONE, 2016 Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it
Francois-Xavier Mauvais +4 more
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Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult.
Ye Guo +7 more
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A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia
Clinical Case ReportsPituitary 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 +6 more
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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 +5 more
doaj +2 more sources
Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation. [PDF]
PLoS ONE, 2013 BACKGROUND: Pituitary stalk interruption syndrome (PSIS) may induce an isolated growth hormone (GH) deficiency or multiple hypothalamic-pituitary (HP) deficiencies.
Luu-Ly Pham +4 more
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Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2017 Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma.
Sang Soo Lee +8 more
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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 +3 more
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