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Síndrome de interrupción del tallo pituitario. Relaciones clínicas, bioquímicas y neurorradiológicas

Published on Oct 1, 2017in Revista Argentina de Endocrinología y Metabolismo
· DOI :10.1016/j.raem.2017.08.001
Laura Castro1
Estimated H-index: 1
,
Silvia Martin3
Estimated H-index: 3
+ 6 AuthorsMirta Miras8
Estimated H-index: 8
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Abstract
Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical signs and symptoms present at early life stages, as well as an analysis of their relationship with hormone laboratory tests and diagnostic imaging in children with congenital hypopituitarism (CHP), and PSIS. This study was performed in a single centre on a sample of 42 children out of a total of 80 CHP patients, with a chronological age range between 5 days and 9.5 years from a database analysed over a period of 26 years. The study included 26/42 (62%) with CPHD and 16/42 (38%) with IGHD. The analysis of perinatal variables showed a natural delivery in 52% (11/21) of CPHD vs 13% (2/15) of IGHD. Four patients, two with CPHD and two IGHD had breech and transverse presentation respectively. All of them were resolved by caesarean section. The perinatal histories showed hypoglycaemia (61% CPHD vs 19% IGHD, P=.0105), jaundice (38% CPHDvs25% IGHD), micropenis (75%CPHD), hypoglycaemic seizures (75% CPHD), and cholestasis (19% CPHD). The mean CA of consulting for CPHD patients was 2.1 years, 30% in neonatal period and 70% before 2 years. The mean chronical age (CA) was 3.6 years in IGHD patients, with 44% of them less than 2 years. MRI showed that 81% of CPHD patients had absence of pituitary stalk vs 19% with thin pituitary stalk (P=.0001); Patients with IGHD presented 56% absence of pituitary stalk vs 44% with thin pituitary stalk (P=.5067). All (100%) of the patients diagnosed in the neonatal stage had absent pituitary stalk. The characterisation of GH deficient patients by presence and type of hypothalamic-pituitary imaging abnormality provides valuable information as a predictor of phenotypic severity, treatment response, and the potential to develop additional hormonal deficiencies. We conclude that demonstrating PSIS in children with HPC provides valuable information as a predictor of phenotypic severity, presence of MPHD, and response to treatment. The low frequency of potentially dysfunctional positional obstetric history, as part of the pathophysiological mechanisms responsible for PSIS, would indicate the need to analyse the importance of possible genetic and epigenetic factors involved. Early diagnosis of HPC should be suspected in the presence of clinical signs and symptoms, such as hypoglycaemia, cholestasis, micropenis, and associated facial midline defects. MRI should be part of complementary studies in patients with this diagnostic suspicion, especially at an early age. Late recognition of this entity may increase morbidity and mortality with potential permanent deleterious effects.
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References29
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Published on Aug 1, 2016in Current Opinion in Pediatrics 2.33
Antonis Voutetakis18
Estimated H-index: 18
,
Amalia Sertedaki12
Estimated H-index: 12
,
Catherine Dacou-Voutetakis19
Estimated H-index: 19
Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. In this review, recent advances with respect to the cause of PSIS, clinical characteristics leading to earlier diagnosis, and management are outlined.Diagnosis of PSIS is often delayed probably b...
Published on Jan 1, 2016in Hormone Research in Paediatrics 2.32
Kochi C1
Estimated H-index: 1
,
Scuderi Cg1
Estimated H-index: 1
+ 5 AuthorsLongui Ca1
Estimated H-index: 1
Aims: To report false-negative normal growth hormone (GH) peak response in patients with ectopic posterior pituitary gland (EPP) identified with a simplified magnetic resonance imaging (FAST1-MRI). Methods: We analyzed 75 EPP patients with short stature and reduced growth velocity. Sagittal-T1 imaging (thickness: 2 mm and gap: 0.2 mm) without gadolinium administration was used. A GH peak of ≥5 ng/ml after clonidine or insulin stimulation was considered normal. Results: Normal GH response was obs...
Published on Nov 12, 2015in PLOS ONE 2.78
Céline Bar2
Estimated H-index: 2
(Boston Children's Hospital),
Charline Zadro1
Estimated H-index: 1
+ 9 AuthorsAnnick Sevely4
Estimated H-index: 4
Background Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).
Published on Sep 1, 2015in Clinical Endocrinology 2.90
Weiqing Wang36
Estimated H-index: 36
(SJTU: Shanghai Jiao Tong University),
Shuwei Wang1
Estimated H-index: 1
(SJTU: Shanghai Jiao Tong University)
+ 6 AuthorsGuang Ning13
Estimated H-index: 13
(SJTU: Shanghai Jiao Tong University)
SummaryContext Pituitary stalk interruption syndrome (PSIS) is a rare cause of combined pituitary hormone deficiency characterized by a triad shown in pituitary imaging, yet it has never been evaluated due to the visibility of pituitary stalk (PS) in imaging findings. Objective The major objective of the study was to systematically describe the disease including clinical presentations, imaging findings and to estimate the severity of anterior pituitary hormone deficiency based on the visibility ...
Published on May 21, 2015in Journal of Molecular Endocrinology 3.74
Ivo J. P. Arnhold43
Estimated H-index: 43
(USP: University of São Paulo),
Marcela M. França8
Estimated H-index: 8
(USP: University of São Paulo)
+ 2 AuthorsAlexander A. L. Jorge25
Estimated H-index: 25
(USP: University of São Paulo)
GLI2 is a zinc-finger transcription factor involved in the Sonic Hedgehog pathway. Gli2 mutant mice have hypoplastic anterior and absent posterior pituitary glands. We reviewed the literature for patients with hypopituitarism and alterations in GLI2. Twenty-five patients (16 families) had heterozygous truncating mutations, and the phenotype frequently included GH deficiency, a small anterior pituitary lobe and an ectopic/undescended posterior pituitary lobe on magnetic resonance imaging and post...
Published on Jan 1, 2015in Hormone Research in Paediatrics 2.32
Valentina Pampanini2
Estimated H-index: 2
(KI: Karolinska Institutet),
Stefania Pedicelli7
Estimated H-index: 7
+ 4 AuthorsStefano Cianfarani29
Estimated H-index: 29
Background/Aims: The diagnosis of growth hormone (GH) deficiency (GHD) in infancy and early childhood is not straightforward. GH stimulation tests are unsafe and unreliable in infants, and normative data are lacking. This study aims to investigate whether brain magnetic resonance imaging (MRI) may replace GH stimulation tests in the diagnosis of GHD in children younger than 4 years. Methods: We examined a retrospective cohort, with longitudinal follow-up, of 68 children consecutively diagnosed w...
Published on May 1, 2014in European Journal of Pediatrics 2.19
Qian Wang3
Estimated H-index: 3
(SDU: Shandong University),
Yanyan Hu2
Estimated H-index: 2
(SDU: Shandong University)
+ 1 AuthorsXiaojun Sun2
Estimated H-index: 2
(SDU: Shandong University)
Pituitary imaging abnormality is a specific indicator of hypopituitarism. This study involved a retrospective review of 59 children diagnosed with pituitary stalk interruption syndrome (PSIS). Of the 59 eligible patients, 54 were born by breech delivery, and there was a significant difference between numbers of patients with breech and head-presenting birth. In order to discuss the relationship between pituitary functions and delineation of pituitary structure in magnetic resonance imaging (MRI)...
Published on Jan 16, 2014in Journal of Pediatric Endocrinology and Metabolism
Sebahattin Sari9
Estimated H-index: 9
,
Erkan Sari8
Estimated H-index: 8
+ 13 AuthorsSalim Ozenc2
Estimated H-index: 2
Objective: The aim of this study is to provide normative data about pituitary diameters in a pediatric population. Pituitary imaging is important for the evaluation of the hypothalamo-pituitary axis defect. However, data about normal pituitary gland diameters and stalk are limited, especially in children. Structure and the measurements of pituitary gland and pituitary stalk may change due to infection, inflammation, or neoplasia. Methods: Among 14,854 cranial/pituitary gland magnetic resonance i...
Published on Jan 14, 2013in PLOS ONE 2.78
Qing-hua Guo6
Estimated H-index: 6
(Chinese PLA General Hospital),
Yan Yang3
Estimated H-index: 3
(Chinese PLA General Hospital)
+ 17 AuthorsXiao-Man Zou3
Estimated H-index: 3
(Chinese PLA General Hospital)
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, we analyzed the clinical characteristics of patients diagnosed with PSIS from our center over 10 years.
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