Vitamin D in children with growth hormone deficiency due to pituitary stalk interruption syndrome
BMC Pediatrics, 2018 Background Recent studies have shown a relationship between vitamin D status and growth hormone (GH) and insulin-like growth factor 1 (IGF1). The objective of this study was to assess vitamin D status in children with GH deficiency due to pituitary stalk
Cécile Delecroix +2 more
doaj +2 more sources
Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese [PDF]
International Journal of Endocrinology, 2016 Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications.
Cheng-Zhi Wang +7 more
doaj +2 more sources
Pituitary Stalk Interruption Syndrome: A Case Report
Turkish Journal of Internal Medicine, 2021 Panhypopituitarism occurs as a result of the insufficiency of all hormones produced in the anterior pituitary gland. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital syndrome leading to hypopituitarism.
Yasemin Aydoğan Ünsal +7 more
doaj +1 more source
Pituitary Stalk Interruption Syndrome: A Case and Literature Review [PDF]
AACE Clinical Case ReportsAnuja Choure
exaly +2 more sources
PITUITARY STALK INTERRUPTION SYNDROME CAUSED BY NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THE <i>KATNIP</i> GENE. [PDF]
Acta Endocrinol (Buchar)Pituitary stalk interruption syndrome (PSIS) is characterized by the coexistence of an absent or thin pituitary stalk, an ectopic posterior pituitary (EPP) lobe, and an absent or hypoplastic anterior pituitary lobe.
Akin SB, Ozgen IT, Uyanik B.
europepmc +2 more sources
PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report. [PDF]
Case Rep PediatrWe report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Saul R +4 more
europepmc +2 more sources
Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre. [PDF]
Clin Endocrinol (Oxf)ABSTRACT Objective Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone ...
Ladd JM +4 more
europepmc +2 more sources
Pituitary Stalk Interruption Syndrome: A Case Series Highlighting the Diagnostic Utility of MRI [PDF]
International Journal of Anatomy Radiology and SurgeryPituitary Stalk Interruption Syndrome (PSIS) is a rare congenital anomaly characterised by an interrupted or thin pituitary stalk, hypoplasia of the anterior pituitary and an absent or Ectopic Posterior Pituitary (EPP).
Jyoti Choudhary +4 more
doaj +1 more source
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
doaj +1 more source
Diagnóstico tardío de síndrome de interrupción del tallo hipofisario
Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017 El síndrome de interrupción del tallo hipofisario (PSIS, por sus siglas en inglés) es una anomalía congénita de probable origen genético causante de hipopituitarismo, que se caracteriza por hipoplasia de la adenohipófisis, neurohipófisis ectópica e ...
Vanessa Garzón Graciano +4 more
doaj +1 more source