Extra pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MR protocol (FAST1.2)

2021 ◽  
Author(s):  
Arthur Lyra ◽  
Daniel de Faria Guimarães ◽  
Altino Sá Meira ◽  
Arthur Castello Berchielli Nunes ◽  
Guilherme Vieira Peixoto ◽  
...  
Keyword(s):  
Sella Turcica ◽  
Pituitary Stalk ◽  
Control Group ◽  
Hypothalamic Hamartoma ◽  
Pars Intermedia ◽  
Posterior Pituitary ◽  
Pineal Cyst ◽  
Imaging Results ◽  
Structural Abnormalities ◽  
Ectopic Posterior Pituitary

Abstract Background Ectopic posterior pituitary (EPP) is a malformation of the hypothalamic-pituitary region. Our goal was to describe midline structural brain abnormalities in patients with EPP using a dedicated protocol (FAST1.2 protocol) of magnetic resonance imaging (MRI) to evaluate the hypothalamus and pituitary gland, highlighting their clinical-laboratory correlations. Methods A cross-sectional study of patients diagnosed with EPP, and a control group. All individuals were submitted to a dedicated MRI protocol called FAST1.2, which combines the FAST1 protocol developed by our group with 3D T2DRIVE imaging. Results We evaluated 36 individuals with EPP and 78 individuals as a control group. One patient had two posterior pituitary lobes, one inside the sella turcica and the other along the pituitary stalk; in five patients, the EPP was along the pituitary stalk; in 28 the EPP was at the infundibular recess of the third ventricle, and in two the EPP was hypothalamic. In the EPP group, eleven individuals had interhypothalamic adhesion (IHA), three septo-optic dysplasia, one a cerebellar malformation, and one a pineal cyst. We did not observe a higher frequency of severe hormonal deficiency or developmental delay in patients with IHA. In the control group, eleven patients had a pineal cyst, three pars intermedia cysts, one hydrocephalus, and one hypothalamic hamartoma. Conclusion FAST1.2 acquisition allows confident recognition of regional anatomy and recognition of midline structural abnormalities on T2DRIVE, particularly including the pituitary stalk and IHA, thereby making MRI acquisition faster with no need for intravenous contrast administration. We suggest that IHA could be associated with defects in neuronal migration, as might occur in patients with EPP.

scholarly journals Causes and Follow-Up of Central Diabetes Insipidus in Children

2019 ◽  
Vol 2019 ◽  
pp. 1-9 ◽  
Author(s):  
Wendong Liu ◽  
Jing Hou ◽  
Xiuqin Liu ◽  
Limin Wang ◽  
Guimei Li
Keyword(s):  
Diabetes Insipidus ◽  
Signal Intensity ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Control Group ◽  
Pituitary Hormone ◽  
Posterior Lobe ◽  
Healthy Children ◽  
Posterior Pituitary ◽  
Urine Testing

Objective. To identify the causes of central diabetes insipidus (CDI) by evaluating the values of magnetic resonance imaging (MRI) in the diagnosis of pediatric CDI, providing evidence for the clinical diagnosis and treatment of CDI. Methods. Seventy-nine patients with CDI (CDI group) hospitalized from July 2012 to March 2017 and 43 healthy children (control group) were enrolled in this study. All cases underwent MRI examination including T1-weighted three-dimensional magnetization-prepared rapid gradient-echo (T1WI-3D-MP RAGE) imaging sequences. The pituitary volume, the signal intensity of posterior pituitary, and the morphology of pituitary stalk were measured between two groups. The medical history, urine testing, imaging of hypothalamic-pituitary region, and hormone levels were also recorded. Results. Age and gender were matched between the CDI and control groups. The height and BMI in the CDI group were less and the urine volume in 24 h was higher than those in the control group. The signal intensity of the posterior pituitary was higher in the control group, whereas the pituitary volume was smaller in the CDI group. In the CDI group, 44 cases presented with morphological changes of the pituitary stalk. Clinical symptoms mainly included polydipsia, polyuria, short stature, and vomiting. All patients were confirmed by water deprivation vasopressin test. Forty-four CDI children were associated with hypopituitarism, including 33 cases of PSIS with multiple pituitary hormone deficiencies (MPHD) and 11 cases of growth hormone deficiency (IGHD). The pituitary volume in the cases of pituitary stalk interruption syndrome (PSIS) with MPHD was smaller than that in the IGHD patients. Conclusions. The signal intensity ratio of the posterior lobe, pituitary volume, and the morphology of pituitary stalk on T1WI-3D-MP RAGE image contribute to the diagnosis of CDI.

scholarly journals SUN-067 Pituitary Dysfunction in Children with Ectopic Posterior Pituitary

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ghada Naji ◽  
Erica Poletto ◽  
Rita Ann Kubicky
Keyword(s):  
Diabetes Insipidus ◽  
Median Eminence ◽  
Third Ventricle ◽  
Retrospective Chart Review ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Posterior Pituitary ◽  
Pituitary Dysfunction ◽  
Ectopic Posterior Pituitary

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.

scholarly journals SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Rania Ahmed ◽  
Asirvatham Alwin robert
Keyword(s):  
Growth Hormone ◽  
Saudi Arabia ◽  
Pituitary Gland ◽  
Short Stature ◽  
Sella Turcica ◽  
Pituitary Stalk ◽  
Pituitary Hormone ◽  
Posterior Pituitary ◽  
Post Contrast ◽  
Optic Chiasma

Abstract Background Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. Here, the authors report a case of PSIS from Saudi Arabia. Clinical Case A 16 year old Saudi boy presented to the endocrine clinic with short stature and undescended testis, status post bilateral orchidopexy. He was delivered by caesarean section because of breech presentation and birth asphyxia. Investigation revealed underdeveloped secondary sexual characteristics with decreased facial and pubic hair growth. The patient height was 134 cm whereas the bone age was 9 - 11 years. Pelvis examination showed a scrotum with bilateral 1 mL testes and the stretch penile length was 3 cm. The patient laboratory investigations showed hemoglobin level of 13 g/dL, serum sodium 140 mmol/L, serum potassium 4.1 mmol/L, serum chloride 102 mmol/L, calcium 9.1 mg/dL, random blood sugar 110 mg/dL and albumin 3.8 mg/dL. A pituitary hormone profile showed hypopituitarism with thyroid, and adrenal sparing. The patient free T4 was 17.3 pmol/L (9-25 pmol/L) and synacthen test revealed a morning baseline cortisol level of 6.5 µg/dL (normal = 4.3-22.4 ug/dL) with adrenocorticotrophic hormone of 9.8 pmol/L (1.1 - 13.2 pmol/L). Insulin-like growth factor 1 level 50 ng/dL (normal = 193.0 - 731.0 ug/L), follicle-stimulating hormone 0.35 µIU/mL (normal, 0.0-10.0), and leutinizing hormone 0.4 µIU/mL (normal = 1.2-7.8). The patient’s morning testosterone level showed 8 ng/dL (normal = 280-800 ng/dL) and prolactin 116 mIU/L (normal = 86 - 324 mIU/L). There were no symptom suggestive of posterior pituitary involvement like polyuria and polydipsia as urine and serum osmolality. The MRI examination showed no pituitary gland identified in the sella turcica and no clear pituitary stalk. A T1 hyperintense focus with post-contrast enhancement was identified posterior to the optic chiasma representing an ectopic posterior pituitary gland. The growth hormone and testosterone therapy were added to medical therapy of the patients and no thyroid or hydrocortisone replacement therapy was given. Conclusion: Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

scholarly journals Pituitary Hypoplasia Is the Best MRI Predictor of the Severity and Type of Growth Hormone Deficiency in Children With Congenital Growth Hormone Deficiency

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A683-A683
Author(s):  
Himanshu Sharma ◽  
Anshul Kumar ◽  
Naincy Purwar ◽  
Nitish Mathur ◽  
Balram Sharma ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Common Finding ◽  
Pituitary Hormone ◽  
Posterior Pituitary ◽  
Mri Findings ◽  
Pituitary Hypoplasia ◽  
Ectopic Posterior Pituitary

Abstract Background and Objectives: Congenital idiopathic growth hormone deficiency(GHD) is associated with various MRI abnormalities, including both sellar anomalies such as pituitary hypoplasia, ectopic pituitary, empty sella and abnormalities of the pituitary stalk and extrasellar abnormalities such as Arnold Chiari malformation, corpus callosum agenesis, arachnoid cyst, septum pellucidum agenesis, enlarged ventricles, vermis dysplasia, and sphenoid cyst. However, it remains contentious whether MRI brain findings could provide an additional avenue for precisely predicting the differentiation of GHD based on severity(severe or partial) and type(isolated GHD or multiple pituitary hormone deficiency MPHD). This study aimed to ascertain the abnormality that is the best predictor of severe GHD and type of GHD amongst the different MRI findings. Methods: This was an analytical cross-sectional study conducted from 2018-2020. During the study period, we included a total of 100 subjects diagnosed to have idiopathic GHD after the exclusion of syndromic causes, system illness, presence of pituitary mass, and those with h/o cranial irradiation. Patients were divided into severe GHD and partial GHD based on peak stimulated GH of <5 ng/dl and ≥ 5 ng/dl respectively and into groups based on isolated GHD and MPHD. Patients were further divided into groups based on the presence of pituitary hypoplasia,extrasellar brain abnormalities (EBA), and presence of ectopic posterior pituitary and/or pituitary stalk abnormalities(EPP/PSA), respectively. Analyses were performed using SPSS version 24.0 software. Results: Amongst 100 subjects with idiopathic congenital GHD, 66 (66%) subjects had Isolated GHD while the remaining 34 (34%) had MPHD. 71 had severe GHD, and 29 had partial GHD. Amongst the MRI findings, pituitary hypoplasia was the most common finding observed in 53% of patients, while 23(23%) had EBA, and 25(25%) had EPP/PSA. Pituitary hypoplasia was observed to be the best predictor of severity of GHD with an odds ratio(OR) of 10.8 (95% CI 3.38-29.6) followed by ectopic posterior pituitary /pituitary stalk abnormalities (OR =2.8, 95% CI 1.5-9.5) while the presence of extrasellar abnormalities was the weakest predictor (OR =1.8, 95% CI 1.05-3.2). Pituitary hypoplasia was the only finding to significantly predict MPHD (OR=9.2). On ROC analysis, a Pituitary height SDS of -2.03 had a 73.2 % sensitivity and specificity of 79.3%(AUC =0.787,95% CI 0.7-0.873) for severe GHD and a sensitivity of 88.2 % and specificity of 66.7% (AUC =0.745, 95% CI 0.68-0.877) for MPHD. Conclusion: We observed Pituitary hypoplasia to be not only the most frequent MRI abnormality but also the best predictor of severe GHD and MPHD amongst various sellar and extrasellar abnormalities.

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

2019 ◽  
Vol 32 (1) ◽  
pp. 95-99
Author(s):  
Marcello Scala ◽  
Andrea Accogli ◽  
Anna Maria Elsa Allegri ◽  
Elisa Tassano ◽  
Mariasavina Severino ◽  
...  
Keyword(s):  
Anterior Pituitary ◽  
Pituitary Stalk ◽  
Comparative Genomic ◽  
Posterior Pituitary ◽  
Loss Of Function ◽  
Human Pituitary ◽  
Developmental Abnormalities ◽  
Pituitary Development ◽  
Pituitary Hypoplasia ◽  
Ectopic Posterior Pituitary

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.

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
Keyword(s):  
Pituitary Gland ◽  
Causal Relationship ◽  
Median Eminence ◽  
Anterior Pituitary ◽  
Paracentric Inversion ◽  
Chromosome 1 ◽  
Pituitary Stalk ◽  
Posterior Pituitary ◽  
Pituitary Tissue ◽  
Ectopic Posterior Pituitary

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

scholarly journals PSIS With Phenotypic Features of Prader Willi and Fragile X Syndrome

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A605-A605
Author(s):  
Syeda Fatima Ali ◽  
Ramsha Shafiq ◽  
Julia Vargas-Jerez ◽  
Tasneem Zahra
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Clinical Manifestations ◽  
Anterior Lobe ◽  
Pituitary Stalk ◽  
Close Monitoring ◽  
Posterior Pituitary ◽  
Developmental Defects ◽  
Hormonal Replacement ◽  
Ectopic Posterior Pituitary

Abstract Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect characterized by triad of interrupted or thin pituitary stalk, hypoplasia or aplasia of anterior lobe and absent or ectopic posterior pituitary on MRI. PSIS is known to have a heterogenous phenotype involving variable combination of pituitary hormonal deficiencies. [1] We present this case diagnosed with PSIS who had phenotypical features of Prader-Willi and Fragile X Syndrome but was negative on chromosomal array and analysis. Case Presentation: 19 yo M presented to clinic accompanied with his mother who provided most of the history. As per the mother, the patient was initially evaluated for hypogonadism due to lack of pubic and axillary hair with underdeveloped penis and testes, till the age of 17 years. Later on he was found to have hypothyroidism and was on replacement for the above. The patient was born through C-section at term, had developmental delays with respect to achieving milestones. On Examination, the patient had BMI of 35.5 (Weight: 105.2 kg, Height: 172 cm). Exam was significant for bilateral gynecomastia with glandular tissue, absence of facial hair, minimally palpable testes, phimosis, minimal pubic hair. He was noted to have enlarged ear lobes and helices with mild hypertelorism. On evaluation patient had learning disability, borderline IQ (nonverbal IQ of 74). Labs were significant for FSH: 0.344 (normal 1.5-12.4), LH; 0.1 (normal 1.70-8.60), Prolactin: 6.31 (normal 2.64-13.13), TSH: 3.80 (normal 0.30-4), T3: 156 (normal 82-179), fT4: 0.409 (normal 0.30-1.90), Testosterone < 0.025, IgF-1 <32, ACTH 14, cortisol 2.1 after cosyntropin test cortisol 13.3. He was started on replacement for secondary adrenal insufficiency. In view of the patient’s obesity, panhypopituitarism, questionable intellectual disability (non-verbal) IQ of 74), and enlarged ear lobes and helices, the patient was strongly suspected to have Prader Willi and Fragile X syndrome, however chromosomes and array were negative for both. MRI brain was recommended that was consistent with PSIS: hypoplastic enhancing pituitary soft tissue within Sella consistent with anterior lobe, ectopic posterior pituitary in region of hypothalamus and unidentifiable pituitary stalk. Conclusion: Pituitary stalk interruption syndrome is diagnosed radiologically and involves multiple pituitary hormonal deficiencies that can gradually progress requiring lifelong hormonal replacement therapy and follow up. It is associated with a wide phenotypic spectrum suggesting both hormonal deficiencies and coexisting developmental defects. Work still needs to be done to further explore the molecular etiology of this rare syndrome however due to wide phenotypical presentation of this syndrome it is imperative to evaluate for PSIS at an early age if there is suspicion of any isolated or combined hormonal deficiency in addition to abnormal morphology to identify individuals with PSIS as they need close monitoring for progression of syndrome and lifelong hormonal replacement eventually. References: 1 Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R. Diagnosis of endocrine disease: Pituitary stalk interruption syndrome: etiology and clinical manifestations. Eur. J. Endocrinol. 2019 Nov;181(5):199-209 (https://eje.bioscientifica.com/view/journals/eje/181/5/EJE-19-0168.xml?body=fullHtml-10422)

scholarly journals Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

2016 ◽  
Vol 102 (1) ◽  
pp. 290-301 ◽  
Author(s):  
Enzo Cohen ◽  
Mohamad Maghnie ◽  
Nathalie Collot ◽  
Juliane Leger ◽  
Florence Dastot ◽  
...  
Keyword(s):  
Sella Turcica ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Incomplete Penetrance ◽  
Posterior Pituitary ◽  
Variable Expressivity ◽  
Functional Studies ◽  
Ectopic Posterior Pituitary ◽  
Congenital Hypopituitarism

Abstract Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4. Design and Patients: We screened 417 unrelated patients with isolated growth hormone deficiency or combined pituitary hormone deficiency associated with ectopic posterior pituitary and/or sella turcica anomalies for LHX4 mutations (Sanger sequencing). In vitro studies were performed to assess the functional consequences of the identified variants. Results: We identified 7 heterozygous variations, including p.(Tyr131*), p.(Arg48Thrfs*104), c.606+1G>T, p.Arg65Val, p.Thr163Pro, p.Arg221Gln, and p.Arg235Gln), that were associated with variable expressivity; 5 of the 7 were also associated with incomplete penetrance. The p.(Tyr131*), p.(Arg48Thrfs*104), p.Ala65Val, p.Thr163Pro, and p.Arg221Gln LHX4 variants are unable to transactivate the POU1F1 and GH promoters. As suggested by transactivation, subcellular localization, and protein-protein interaction studies, p.Arg235Gln is probably a rare polymorphism. Coimmunoprecipitation studies identified LHX3 as a potential protein partner of LHX4. As revealed by functional studies of LIM-defective recombinant LHX4 proteins, the LIM1 and LIM2 domains are not redundant. Conclusion: This study, performed in the largest cohort of patients screened so far for LHX4 mutations, describes 6 disease-causing mutations that are responsible for congenital hypopituitarism. LHX4 mutations were found to be associated with variable expressivity, and most of them with incomplete penetrance; their contribution to pituitary deficits that are associated with an ectopic posterior pituitary and/or a sella turcica defect is ∼1.4% in the 417 probands tested.

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