scholarly journals Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Ibtissem Oueslati ◽  
Marwa Ben Jemaa ◽  
Meriem Yazidi ◽  
Fatma Chaker ◽  
Melika Chihaoui
Keyword(s):  
Down Syndrome ◽  
Late Onset ◽  
Copy Number Variants ◽  
Sella Turcica ◽  
Pituitary Hormones ◽  
Empty Sella ◽  
Magnetic Resonance Imaging Scan ◽  
The Past ◽  
Low Blood Pressure ◽  
Thyroperoxidase Antibodies

Isolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its possible mechanisms. A 33-year-old woman with Down syndrome was referred to our department for the investigation of low blood pressure. She complained of asthenia, dizziness, and palpitation with arterial hypotension for the past 4 years. The thyroid function was normal and anti-thyroperoxidase antibodies were negative. The peak of cortisol level in response to the insulin-induced hypoglycemia test was 9.4 μg/dl. ACTH level was normal, indicating corticotrope deficiency. Other pituitary hormones were normal. Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. The mechanism of isolated corticotrope deficiency is unclear, but it may be induced by autoimmune mechanism in similar to other disorders of patients with Down syndrome.

CORTICOSTERONE SECRETING ADRENAL CARCINOMA AND EMPTY SELLA TURCICA: A CASE REPORT

1979 ◽  
Vol 91 (4) ◽  
pp. 650-656
Author(s):  
Bjørn Krølner ◽  
Steen Larsen ◽  
Meta Damkjær Nielsen
Keyword(s):  
Sella Turcica ◽  
Pituitary Hormones ◽  
Empty Sella ◽  
High Dose ◽  
Adrenal Carcinoma ◽  
Pituitary Fossa ◽  
High Dose Dexamethasone ◽  
Corticosterone Metabolites ◽  
Steroid Excretion ◽  
Urinary Steroid

ABSTRACT Pituitary adenoma was suspected in a woman of 74 with hypercorticism, hypokalaemic alkalosis and radiographically enlarged sella turcica. However, non-suppressibility of steroid excretion by high-dose dexamethasone and low plasma concentration of ACTH suggested adrenal tumour. Detailed analysis of urinary steroid excretions demonstrated unusually large amounts of corticosterone metabolites, 14.6 mg/24 h compared to a mean normal value of 0.5 mg. The basal levels of the remaining pituitary hormones were unremarkable. The patient died incidentally before a planned adrenalectomy. The autopsy disclosed an adrenal carcinoma and an empty sella turcica. The enlarged pituitary fossa was lined by a narrow rim of histological normal pituitary tissue.

scholarly journals Pituitary volume in patients with Primary Empty Sella and clinical relevance to pituitary hormone secretion: A retrospective single center study

2021 ◽  
Vol 17 ◽  
Author(s):  
Gamze Akkus ◽  
Sinan Sözütok ◽  
Fulya Odabaş ◽  
Bilen Onan ◽  
Mehtap Evran ◽  
...  
Keyword(s):  
Anterior Pituitary ◽  
Hormone Secretion ◽  
Sella Turcica ◽  
Volume Measurement ◽  
Pituitary Hormones ◽  
Empty Sella ◽  
Pituitary Hormone ◽  
Pituitary Dysfunction ◽  
Volume Measurements ◽  
Primary Empty Sella

Background: According to neuroradiological findings, empty sella seems to be deprived of pituitary tissue in sella turcica. Changing size of the pituitary volume is closely related to the occurrence of primary empty sella. The aim of the study is to determine pituitary dysfunction in patients with partial or total primary empty sella and the significance of pituitary volume measurements in these patients. Methods: This study was designed retrospectively. 67 patients (55 females, 12 males) diagnosed with primary empty sella syndrome between the years of 2015-2019 were included in the study. Patients were divided into two groups: partial (PES) and total (TES) empty sella by magnetic resonance imaging (MRI). Basal anterior pituitary and its hormones were assessed. We also included 26 healthy control subjects (19 females, 7 males) to compare the differences in pituitary volumes. Volumes were measured by using Osirix Dicom Viewer ( Pixmeo SARL, Geneve, Swiss) in 3.0 Tesla scanner MRI. Results: 82.1% (n=55) of all patients were PES and the others were (n=12) TES. Hypopituitarism, known as one or more pituitary hormones deficiency, was found in 12 patients (17.9%). While 9 of them had total PES, the others had partial PES. Secondary adrenal insufficiency and gonadotropin deficiency were more prevalent in patients with TES. Mean volume measurements of patients with TES, PES and healthy subjects were 0.23±0.17, 0.35±0.15, 0.54±0.17 cm3, respectively. Except for IGF1 values (p=0.026), there was not any significant correlation found between the anterior pituitary hormones and volume measurements. Conclusion: Although volume measurement has helped in the diagnosis of pituitary empty sella (partial or total), it does not seem to have any significant correlation with pituitary secretory function.

Primary hypothyroidism associated with empty sella turcica and hypopituitarism

2005 ◽  
Vol 58 (7-8) ◽  
pp. 410-413 ◽  
Author(s):  
Maja Milosevic ◽  
Milos Stojanovic ◽  
Milica Nesovic
Keyword(s):  
Sella Turcica ◽  
Pituitary Hormones ◽  
Empty Sella ◽  
Primary Hypothyroidism ◽  
Pituitary Hormone ◽  
Pituitary Insufficiency ◽  
Central Hypothyroidism ◽  
Empty Sella Syndrome ◽  
The Third ◽  
High Level

Introduction Empty sella syndrome is a rather frequent neuroradiological finding in the general population and can be associated with hypopituitarism. Examinations reveal low pituitary hormone levels and lack of response to stimuli. Most patients suffer from central hypothyroidism as part of pituitary insufficiency. Primary hypothyreoidism is a rare finding in these patients. Case report We present 3 patients: one female and two male, suffering from complete hypopituitarism, as part of the empty sella syndrome diagnosed due to low concentrations of all pituitary hormones, elevated TSH and low thyroid hormones. TRH, LHRH, ACTH and ITT tests, as well as IGF1 have confirmed hypopituitarism and primary hypothyroidism. CT and NMR in all three patients showed empty sella without a tumor in it. The diagnosis of primary hypothyrodism in the first patient was made before hypopituitarism has taken place, or at the same time in the second patient, whereas in the third patient it was diagnosed twenty years later. In two patients anti-TPO and anti-Tg antibody levels were high, and in the third patient they were not elevated. It can be assumed that the etiology of primary hypothyrodism in all three patients was of autoimmune origin, which caused thyroid hypofunction. High level of TSH in all three patients and especially in the patient whose hypopituitarism was diagnosed twenty years later, showed presence of thyrotrophic cells in the pituitary. Evaluation of the hypothalamic-pituitary-thyroid axis was carried out during the complete substitution therapy of hypopituitarism. Conclusion Diagnosing primary hypothyrodism associated with hypopituitarism helps improving the knowledge on empty sella syndrome and points to different clinical syndromes characterized by lack of mixoedema, although approach to therapy is the same for both primary and central hypothyroidism.

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

scholarly journals Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Functional Outcomes ◽  
Clinical Presentation ◽  
Late Onset ◽  
Current Knowledge ◽  
Epileptic Seizures ◽  
Myoclonic Epilepsy ◽  
Increased Risk ◽  
Number Of Individuals

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

Abstract 15169: De Novo Variants of USP10 in Early Onset Bicuspid Aortic Valve Disease

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Siddharth K Prakash ◽  
Angela T Yetman ◽  
Hector I Michelena ◽  
Malenka M Bissell ◽  
Yuli Y Kim ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Early Onset ◽  
Rare Variants ◽  
De Novo ◽  
Late Onset ◽  
Copy Number Variants ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Aortic Dissections

Introduction: Bicuspid Aortic Valve (BAV), the most common congenital heart defect, is a major cause of aortic regurgitation or stenosis requiring valve replacement and thoracic aortic aneurysms predisposing to acute aortic dissections (TAD). The spectrum of BAV ranges from severe early onset valve and aortic complications to sporadic late onset disease. Hypothesis: Early onset BAV (EBAV) cases with valve or aortic complications that require intervention prior to age 30 are enriched for rare genetic variants that cause BAV and TAD. Methods: We performed whole exome sequencing of 147 EBAV cases in 141 families who were enrolled in the UTHealth Bicuspid Aortic Valve Research Registry. Candidate variants in the EBAV cohort (26% female, mean age 18, 44% with TAD) were compared to unselected controls from the Genome Aggregation Database (gnoMAD) and the Database of Genotypes and Phenotypes (dbGAP). We considered variants with minor allele frequencies (MAF) < 1%, Combined Annotation Dependent Depletion (CADD) scores > 25, and damaging (Polyphen-2) or deleterious (SIFT) functional prediction scores. Genomic copy number variants (CNVs) were detected using CoNIFER and prioritized when deletions involved genes with probability of loss intolerance (pLI) > 0.9. Variants were validated using quantitative PCR or Sanger sequencing. Results: We identified 6 rare variants of USP10 in 6 EBAV families (4% of cohort): 4 CNVs (2 duplications and 2 deletions) that are rare in dbGAP controls (4 in 15,414) and 2 deleterious rare missense variants (MAF<5x10 -5 in gnoMAD). Two of the 4 CNVs were de novo events in trios. In contrast, rare deleterious variants of the known causal BAV genes NOTCH1 (1), ROBO4 (1), GATA4 (1), GATA5 (1), and SMAD6 (4) were found in 7 total families. USP10 encodes a ubiquitin peptidase that is required for endothelial Notch signaling during vascular development. Conclusions: We identified rare and de novo variants of USP10 that implicate USP10 as a new candidate gene for BAV.

scholarly journals Moving Forward: The Inclusion of Characters with Down Syndrome in Children’s Picture Books

1944 ◽  
Vol 7 (2) ◽  
Author(s):  
Tracey Kalke-Klita
Keyword(s):  
Down Syndrome ◽  
Picture Books ◽  
Annotated Bibliography ◽  
Educational Setting ◽  
The Past ◽  
Children's Picture Books ◽  
The Common ◽  
Over Time

This article analyzes fifteen children’s picture books published over the past twenty-five years that include a character with Down syndrome (DS). From the perspective of both an educator and a parent of a child with DS, this article focuses on the changes in these picture books over time, the common threads connecting these books, an evaluation of these titles, and suggestions for use in the educational setting. In addition, an annotated bibliography is provided.

The potentials of magnetic resonance tomography in the diagnosis of the “empty” sella turcica

1994 ◽  
Vol 24 (3) ◽  
pp. 229-233 ◽  
Author(s):  
I. I. Dedov ◽  
T. S. Zenkova ◽  
G. A. Mel'nichenko ◽  
O. I. Belichenko ◽  
I. D. Fedina
Keyword(s):  
Magnetic Resonance ◽  
Sella Turcica ◽  
Magnetic Resonance Tomography ◽  
Empty Sella

THE PRIMARY EMPTY SELLA AN ENDOCRINE STUDY ON 12 CASES

1976 ◽  
Vol 83 (3) ◽  
pp. 483-492 ◽  
Author(s):  
G. Schaison ◽  
J. Metzger
Keyword(s):  
Prolactin Level ◽  
Sella Turcica ◽  
Empty Sella ◽  
Endocrine Function ◽  
Thyrotrophin Releasing Hormone ◽  
Releasing Hormone ◽  
Group A ◽  
Group B ◽  
Lh Releasing Hormone ◽  
Primary Empty Sella

ABSTRACT Twelve patients (10 women and 2 men) with a primary empty sella turcica were studied. Endocrine function tests were performed as follows: growth hormone (GH) was measured after insulin-induced-hypoglycaemia, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) after LH-releasing hormone, thyrotrophin (TSH) and prolactin after thyrotrophin-releasing hormone; pituitary reserve of adrenocorticotrophin (ACTH) was determined by measurement of plasma cortisol after lysinevasopressin and 11 deoxycortisol after metyrapone. Five of the patients (group A) had no endocrine disturbance. Seven patients (group B) had a hypothalamo-pituitary disorder. Two of them had panhypopituitarism which appeared in one case after meningoencephalitis and in the other after a severe cranial trauma. In two cases an amenorrhoea-galactorrhoea syndrome with increased prolactin level (68 and 230 ng/ml) led to a diagnosis of a prolactin producing adenoma, which was confirmed by surgery. Finally three cases of amenorrhoeagalactorrhoea, with normal prolactin level, and/or diabetes insipidus remained unexplained. However, no causal relationship could be demonstrated between the pituitary disturbance and the "empty sella". Primary empty sella turcica is therefore a neuroanatomical and neuroradiological entity with no endocrine implication. A pituitary disorder might suggest a microadenoma or an incidentally associated disease.

scholarly journals Anterior pituitary lobe atrophy as late complication of hemorrhagic fever with renal syndrome

2009 ◽  
Vol 66 (2) ◽  
pp. 166-168
Author(s):  
Dragan Jovanovic ◽  
Zoran Kovacevic ◽  
Tamara Dragovic ◽  
Marijana Petrovic ◽  
Jelena Tadic
Keyword(s):  
Renal Insufficiency ◽  
Anterior Pituitary ◽  
Late Complication ◽  
Sella Turcica ◽  
Hemorrhagic Fever ◽  
Empty Sella ◽  
Acute Stage ◽  
Hantavirus Infection ◽  
Multisystemic Disease ◽  
Acute Renal Insufficiency

Introduction. Hemorrhagic fever with renal syndrome (HFRS) is acute infective multisystemic disease followed by febrility, hemorrhages and acute renal insufficiency. Bleeding in the anterior pituitary lobe leading to tissue necrosis occurs in acute stage of severe clinical forms of HFRS, while atrophy of the anterior pituitary lobe with diminution of the gland function occurs after recovery stage. Case report. We presented a patient with the development of chronic renal insufficiency and hypopituitarism as complication that had been diagnosed six years after Hantavirus infection. Magnetic resonance of the pituitary gland revealed atrophy and empty sella turcica. Conclusion. Regarding frequency of this viral infection and its endemic character in some parts of our country partial and/or complete loss of pituitary function should be considered during the late stage of HFRS.

Sign in / Sign up

Export Citation Format

Share Document