Ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 in twins

1995 ◽  
Vol 133 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Selma F Siegel ◽  
Mamdouha Ahdab-Barmada ◽  
Silva Arslanian ◽  
Thomas P Foley

Siegel SF, Ahdab-Barmada M, Arslanian S, Foley Jr TP. Ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 in twins. Eur J Endocrinol 1995;133:87–92. ISSN 0804–4643 Twin boys with hypopituitarism, hypoplasia of the anterior pituitary gland, ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 are described. The smooth appearance at the base of the median eminence and the absence of a pituitary stalk at autopsy in these boys implies that the hypopituitarism resulted from a developmental aberration. It remains to be determined if there is a causal relationship between the chromosome 1 anomaly and hypopituitarism. Selma F Siegel, Division of Endocrinology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA, 15213, USA

Neurosurgery ◽  
2003 ◽  
Vol 53 (4) ◽  
pp. 880-886 ◽  
Author(s):  
Rudolf A. Kristof ◽  
Ales F. Aliashkevich ◽  
Volkmar Hans ◽  
Dorothee Haun ◽  
Bernhard Meyer ◽  
...  

Abstract OBJECTIVE To study the regional oxygen saturation (rSO2) of pituitary adenomas, in comparison with that of the pituitary gland. METHODS Microspectrophotometric (MSP) measurements of rSO2 in adenomas and pituitary tissue were performed for a series of patients undergoing first-time transsphenoidal pituitary adenoma surgery, in a standardized anesthesia setting. The areas of measured tissue were sampled for histopathological and immunohistochemical (CD34 and CD45) assessments. The results of MSP measurements were compared with the results of the histopathological and immunohistochemical assessments. RESULTS Thirty-six MSP measurements and tissue samples were obtained among 22 patients with pituitary macroadenomas, including 14 from adenoma tissue, 17 from the anterior pituitary lobe, and 5 from the posterior pituitary lobe. The rSO2 of adenoma tissue (mean ± standard deviation, 43.3 ± 23.2%) was statistically significantly (P = 0.001) lower than the values for the anterior pituitary lobe (mean ± standard deviation, 71.8 ± 18.3%) and posterior pituitary lobe (mean ± standard deviation, 74.9 ± 4.8%). The difference between the rSO2 values for the anterior pituitary lobe and posterior pituitary lobe was not significant. There were no statistically significant differences in microvessel density (as assessed with CD34 staining) or lymphocyte density (as assessed with CD45 staining) among the three tissue types. CONCLUSION As assessed with MSP measurements, the rSO2 of adenoma tissue was significantly lower than that of the pituitary gland, indicating differences in their blood supply and/or metabolism in pituitary macroadenomas. Further studies are needed to determine whether MSP measurements can reliably facilitate intraoperative delineation of adenoma and pituitary tissue, in the effort to achieve complete tumor removal with minimal injury to pituitary tissue.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ghada Naji ◽  
Erica Poletto ◽  
Rita Ann Kubicky

Abstract Background: Imaging studies aid in the detection of structural abnormalities that may be associated with pituitary dysfunction, such as ectopic posterior pituitary (EPP). The location of the ectopic lobe can vary, but it is most commonly located along the median eminence in the floor of the third ventricle. An EPP could result from complete or partial defective neural migration during embryogenesis, which could explain the different loci of EPP. Affected individuals have either severe isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiencies (CPHD); diabetes insipidus is not a feature, indicating that the EPP is functioning normally. Aim: To detect the prevalence of IGHD or CPHD in children with EPP. In addition, to evaluate the association between the location of EPP and pituitary dysfunction. Methods: A retrospective chart review of MRI reports at St. Christopher’s Hospital for Children (SCHC) from 2006-2018 that were found to have EPP. Pituitary hormone function was evaluated in the majority of the patient population. Results: Of the 26 patients with EPP, [16 males (M) and 10 females (F)], mean chronologic age was 5.98+5.18 yrs, only 20 patients had an endocrine evaluation at SCHC. Of the 20 children, 14 had CPHD and 4 had IGHD. Patients were classified into 3 groups (upper, middle & lower) according to EPP location along the pituitary stalk. Of the 21 patients with upper EPP, 17 had pituitary dysfunction (14 with CPHD, 3 with IGHD). Of the 4 children with middle EPP, only 1 had pituitary dysfunction which was IGHD. One patient had lower EPP with hyperprolactinemia. Diabetes insipidus was not identified in any of the children. Conclusion: Our study supports previous reports that CPHD and IGHD are frequent in patients with EPP. Similarly, our data further demonstrate that no cases of diabetes insipidus have been reported in children with EPP. In our study, EPP is most commonly located along the upper third of pituitary stalk at the median eminence level, with a higher prevalence of CPHD and IGHD, a finding similar to prior studies. No CPHD was reported in middle/lower but IGHD was found in the middle EPP group.


2019 ◽  
Vol 32 (1) ◽  
pp. 95-99
Author(s):  
Marcello Scala ◽  
Andrea Accogli ◽  
Anna Maria Elsa Allegri ◽  
Elisa Tassano ◽  
Mariasavina Severino ◽  
...  

Abstract Background The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities. Case presentation We report a 4.5-year-old girl with anterior pituitary hypoplasia and pituitary stalk duplication in the ventral-dorsal direction. Her father had a similar pituitary phenotype, characterized by anterior pituitary hypoplasia combined with ectopic posterior pituitary. Comparative genomic hybridization (CGH) microarray analysis identified a 343.7 kb deletion of 3p12.3 encompassing ROBO1 in both individuals. Conclusions We report the first familial ROBO1 deletion in two individuals with peculiar pituitary anomalies, including the rare pituitary stalk duplication in the ventral-dorsal direction. These findings widen the spectrum of the phenotypes associated with ROBO1 haploinsufficiency and support its role in human pituitary development.


2015 ◽  
pp. 120-124
Author(s):  
Thi Ngoc Hien Pham ◽  
Trong Khoan Le

Posterior pituitary ectopia refers to an absent normal posterior pituitary bright spot within the sella with ectopic bright signal at another site (such as the median eminence) on T1 weighted images. We describe one case with congenital pituitary dwarfism caused by ectopic posterior pituitary gland. Key words: Ectopic posterior pituitary gland, congenital pituitary dwarfism.


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