Relationship between growth hormone deficiency and nonalcoholic fatty liver disease in patients with pituitary stalk interruption syndrome
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DOI: 10.1111/cen.14732
Abstract: Pituitary stalk interruption syndrome (PSIS), characterized by thinning or disappearance of the pituitary stalk, hypoplasia of the anterior pituitary, and an ectopic posterior pituitary, can lead to congenital combined pituitary hormone deficiency. There is a… read more here.
Keywords: nonalcoholic fatty; fatty liver; pituitary stalk; stalk interruption ... See more keywords
Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole‐exome sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.15781
Abstract: Pituitary stalk interruption syndrome (PSIS) is a type of congenital malformation of the anterior pituitary, which leads to isolated growth hormone deficiency or multiple hypothalamic‐pituitary deficiencies. Many genetic factors have been explored, but they only… read more here.
Keywords: pathogenic genes; stalk interruption; psis; interruption syndrome ... See more keywords
Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy
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DOI: 10.1136/bcr-2024-262020
Abstract: This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child’s initial presentation was an afebrile, generalised tonic-clonic… read more here.
Keywords: pituitary stalk; interruption syndrome; cortical dysplasia; focal cortical ... See more keywords
Two Cases of Pituitary Stalk Interruption Syndrome in Syrian Children
Sign Up to like & getrecommendations! Published in 2020 at "Case Reports in Endocrinology"
DOI: 10.1155/2020/2039649
Abstract: 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… read more here.
Keywords: stalk interruption; stalk; interruption syndrome; two cases ... See more keywords
SUN-192 Neonatal Diagnosis of Pituitary Stalk Interruption Syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvaf149.1820
Abstract: Abstract Disclosure: T. Handa: None. R. Soohey: None. M. Gortakowski: None. Introduction: Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary disorder characterized by MRI findings a thin or interrupted pituitary stalk, ectopic posterior pituitary… read more here.
Keywords: stalk interruption; psis; interruption syndrome; pituitary stalk ... See more keywords
A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Endocrine journal"
DOI: 10.1507/endocrj.ej22-0564
Abstract: Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder that affects 6-7 per 100,000 populations, and pituitary stalk interruption syndrome (PSIS) is a rare congenital defect with varying degrees of pituitary hormone deficiency, affecting… read more here.
Keywords: pituitary stalk; stalk interruption; stalk; interruption syndrome ... See more keywords
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2023-0541
Abstract: Abstract Objectives The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the… read more here.
Keywords: robo1; pituitary stalk; mutation; interruption syndrome ... See more keywords
Pituitary stalk interruption syndrome complicated with liver cirrhosis: A case report
Sign Up to like & getrecommendations! Published in 2024 at "World Journal of Hepatology"
DOI: 10.4254/wjh.v16.i11.1348
Abstract: BACKGROUND Pituitary stalk interruption syndrome (PSIS) is a rare disorder, often characterized by delayed growth and development, short stature, and hypogonadism as the main clinical manifestations. It is not clear whether PSIS can lead to… read more here.
Keywords: cirrhosis case; case; interruption syndrome; pituitary stalk ... See more keywords
Pituitary Stalk Interruption Syndrome Revealed by Neonatal Cholestasis: Two Case Reports
Sign Up to like & getrecommendations! Published in 2025 at "Oman Medical Journal"
DOI: 10.5001/omj.2028.28
Abstract: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital disorder causing multiple pituitary hormone deficiencies. Though neonatal cholestasis has various causes, PSIS is an uncommon and often overlooked etiology, likely linked to cortisol deficiency. We… read more here.
Keywords: cholestasis; neonatal cholestasis; stalk interruption; case ... See more keywords