-
Clinical Neuropathology 2020Cystic sellar salivary gland-like lesions (CSSLs) are exceedingly rare, with fewer than a dozen case reports. They contain amorphous colloid identical to Rathke cleft...
INTRODUCTION
Cystic sellar salivary gland-like lesions (CSSLs) are exceedingly rare, with fewer than a dozen case reports. They contain amorphous colloid identical to Rathke cleft cyst contents, but the cyst wall additionally shows cohesive aggregates of benign salivary glands. We report three new examples.
MATERIALS AND METHODS
Two cases were seen at University of Colorado Denver and one at Memorial Sloan Kettering (MSK). Molecular testing was attempted on two of three.
RESULTS
Case 1 is a 20-year-old female who presented with panhypopituitarism and was found to have a suprasellar mass that proved to be a CSSL. She received no postoperative adjuvant therapy, but recurrence of headaches and blurred vision 2 years later prompted return to medical attention. A much smaller local cyst recurrence was now accompanied by a thickened, bulbous infundibular stalk. Second resection yielded a gliotic infundibular stalk and amorphous mucin, but no residual salivary-like glands. She is without further recurrence on 6-year follow-up. Case 2 is a 29-year-old female with headache; while seen initially at a tertiary care center, diagnosis was only made after consultation at MSK. Case 3 is 68-year-old female who had originally presented with apoplexy to an outside hospital 7 years prior to surgery and diagnosis. Molecular testing was uninformative on case 1 and negative for mutations or fusions on case 3.
CONCLUSION
Few pathologists or neuropathologists have encountered CSSLs in their practices; case 1 produced recurrence and significant infundibular stalk damage, and case 3 originally manifested apoplexy, features not previously reported.
Topics: Adult; Central Nervous System Cysts; Cysts; Female; Humans; Hypopituitarism; Magnetic Resonance Imaging; Neoplasm Recurrence, Local; Neurosurgical Procedures; Pituitary Gland; Salivary Glands; Young Adult
PubMed: 31845864
DOI: 10.5414/NP301235 -
Internal Medicine (Tokyo, Japan) Feb 2023A 59-year-old man suspected of having myocardial infarction with sinus bradycardia, a decreased blood pressure, and ST-change on an electrocardiogram was referred to our...
A 59-year-old man suspected of having myocardial infarction with sinus bradycardia, a decreased blood pressure, and ST-change on an electrocardiogram was referred to our hospital's emergency department. Emergent coronary angiography revealed no significant findings. However, the patient experienced shock and required intensive care. Curiosity rose when his urination volume was not disturbed; we suspected hormonal abnormalities. A hormonal examination and imaging analysis revealed panhypopituitarism caused by a Rathke's cyst. Appropriate hormonal replacement therapy improved his symptoms and led to normalization of his electrocardiogram findings. Acute coronary syndrome (ACS) is a fatal disease; however, clinicians must not discount panhypopituitarism, as it may mimic ACS symptoms.
Topics: Male; Humans; Middle Aged; Acute Coronary Syndrome; Hypopituitarism; Cysts; Emergency Service, Hospital
PubMed: 35705269
DOI: 10.2169/internalmedicine.0031-22 -
Discovery Medicine Mar 2015In recent decades, dozens of genes that cause isolated and combined pituitary hormone deficiencies have been discovered. We will review the clinically relevant genes... (Review)
Review
In recent decades, dozens of genes that cause isolated and combined pituitary hormone deficiencies have been discovered. We will review the clinically relevant genes known to cause isolated and combined pituitary hormone deficiencies in humans. This review will address genetic causes of adrenocorticotropic hormone deficiency, thyroid stimulating hormone deficiency, growth hormone deficiency, hypogonadotropic hypogonadism, and diabetes insipidus. Additionally, we will discuss genetic causes of combined pituitary hormone deficiency, septo-optic dysplasia, holoprosencephaly, and multisystemic syndromes in which hypopituitarism is a significant component. With the widespread clinical availability of next generation sequencing and ongoing identification of new disease causing genes, genetic diagnoses are determined for increasing numbers of patients. With new insights into mechanisms of disease resulting from multiple gene interactions, an increasingly nuanced understanding of the underlying genetic etiology of pituitary hormone deficiencies is possible.
Topics: Adrenal Insufficiency; Diabetes Insipidus; Female; Genetic Predisposition to Disease; Genetic Testing; High-Throughput Nucleotide Sequencing; Holoprosencephaly; Human Growth Hormone; Humans; Hypogonadism; Hypopituitarism; Male; Mutation; Phenotype; Thyrotropin
PubMed: 25828521
DOI: No ID Found -
British Journal of Neurosurgery Jun 2024We describe a rare case of histopathologic-proven necrotizing infundibulo-hypophysitis (NIH). (Review)
Review
PURPOSE
We describe a rare case of histopathologic-proven necrotizing infundibulo-hypophysitis (NIH).
CLINICAL HISTORY
A 40-year-old female presented with coexistence of central diabetes insipidus and hypopituitarism. Imaging disclosed a thickened infundibulum and a diffusely enlarged pituitary mass with gadolinium rim enhancement pattern. Microsurgical endonasal transsphenoidal resection was performed. The presence of extensive liquefactive necrosis, surrounded by lymphoplasmocytic inflammatory infiltrate, allowed for the diagnosis of NIH. Follow-up cranial imaging 10 months after surgery showed no evidence of reappearance of the lesion. There was no progression to panhypopituitarism.
CONCLUSION
Surgery and histopathological confirmation are the key diagnostic feature in NIH. The current case is the fifth report of NIH and the first one with an indolent course and without progression to panhypopituitarism so far.
Topics: Humans; Female; Adult; Hypopituitarism; Necrosis; Hypophysitis; Magnetic Resonance Imaging; Diabetes Insipidus, Neurogenic
PubMed: 34148487
DOI: 10.1080/02688697.2021.1940857 -
IScience Nov 2023-GlcNAcylation is a key post-translational modification, playing a vital role in cell signaling during development, especially in the brain. In this study, we...
-GlcNAcylation is a key post-translational modification, playing a vital role in cell signaling during development, especially in the brain. In this study, we investigated the role of -GlcNAcylation in regulating the homeobox protein OTX2, which contributes to various brain disorders, such as combined pituitary hormone deficiency, retinopathy, and medulloblastoma. Our research demonstrated that, under normal physiological conditions, the proteasome plays a pivotal role in breaking down endogenous OTX2. However, when the levels of OTX2 rise, it forms oligomers and/or aggregates that require macroautophagy for clearance. Intriguingly, we demonstrated that -GlcNAcylation enhances the solubility of OTX2, thereby limiting the formation of these aggregates. Additionally, we unveiled an interaction between OTX2 and the chaperone protein CCT5 at the -GlcNAc sites, suggesting a potential collaborative role in preventing OTX2 aggregation. Finally, our study demonstrated that while OTX2 physiologically promotes cell proliferation, an -GlcNAc-depleted OTX2 is detrimental to cancer cells.
PubMed: 38026167
DOI: 10.1016/j.isci.2023.108184 -
Journal of Mid-life Health 2022Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism....
Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism. This entity was first recognized in 1962 by Goudie and Pinkerton. We report the case of a 36-year-old nonpregnant female operated for a presumed nonsecreting pituitary adenoma. On intraoperative squash cytology and histology of excision biopsy confirmed the diagnosis of LYH. Review of the literature shows that most reported cases have occurred in women during pregnancy or during postpartum period. Many were accurately diagnosed only after biopsy or at necropsy. It is suspected to be an autoimmune endocrinopathy as concomitant lymphocytic infiltration of the thyroid and pituitary glands has been noted and antipituitary antibodies have been found in some instances. Clinically and radiologically, LYH may mimic a nonsecretory pituitary adenoma. Intraoperative diagnosis may prevent unnecessary excision of potentially functioning pituitary.
PubMed: 36950203
DOI: 10.4103/jmh.jmh_32_21 -
F1000Research 2017The understanding of hypopituitarism has increased over the last three years. This review provides an overview of the most important recent findings. Most of the recent... (Review)
Review
The understanding of hypopituitarism has increased over the last three years. This review provides an overview of the most important recent findings. Most of the recent research in hypopituitarism has focused on genetics. New diagnostic techniques like next-generation sequencing have led to the description of different genetic mutations causative for congenital dysfunction of the pituitary gland while new molecular mechanisms underlying pituitary ontogenesis have also been described. Furthermore, hypopituitarism may occur because of an impairment of the distinctive vascularization of the pituitary gland, especially by disruption of the long vessel connection between the hypothalamus and the pituitary. Controversial findings have been published on post-traumatic hypopituitarism. Moreover, autoimmunity has been discussed in recent years as a possible reason for hypopituitarism. With the use of new drugs such as ipilimumab, hypopituitarism as a side effect of pharmaceuticals has come into focus. Besides new findings on the pathomechanism of hypopituitarism, there are new diagnostic tools in development, such as new growth hormone stimulants that are currently being tested in clinical trials. Moreover, cortisol measurement in scalp hair is a promising tool for monitoring cortisol levels over time.
PubMed: 28299199
DOI: 10.12688/f1000research.9436.1 -
Proceedings (Baylor University. Medical... 2022Panhypopituitarism is an extremely rare disorder in acute myeloid leukemia (AML). To our knowledge, only six cases have been reported. Of note, central diabetes...
Panhypopituitarism is an extremely rare disorder in acute myeloid leukemia (AML). To our knowledge, only six cases have been reported. Of note, central diabetes insipidus is known to be associated with AML in patients with certain cytogenic abnormalities, such as monosomy chromosome 7 and inv(3)(q21;q26). We describe a 30-year-old incarcerated woman with newly diagnosed AML who developed panhypopituitarism. Her cytogenetic studies revealed a normal karyotype, were negative for inv(3)(q21;q26), but were positive for FMS-like tyrosine kinase 3 internal tandem duplication.
PubMed: 36304602
DOI: 10.1080/08998280.2022.2093589 -
Reproductive Biomedicine Online Mar 2022What are the consequences of panhypopituitarism on pregnancy outcomes?
RESEARCH QUESTION
What are the consequences of panhypopituitarism on pregnancy outcomes?
DESIGN
Retrospective population-based study using data from the Healthcare Cost and Utilization Project - Nationwide Inpatient Sample (HCUP-NIS). A dataset was created of all deliveries between 2004 and 2014 inclusive. Within this group, all deliveries to women who had a diagnosis of panhypopituitarism during pregnancy were identified as part of the study group (n = 120), and the remaining deliveries comprised the reference group (n = 8,732,641). A multivariate logistic regression analysis, controlling for confounding effects, was conducted to explore associations between panhypopituitarism and pregnancy complications, delivery and neonatal outcomes.
RESULTS
No significant differences were found in the risk of developing gestational hypertension, gestational diabetes mellitus, placental abruption, or preterm delivery delivering a small for gestational age neonate, or in the mode of delivery. There was a higher risk of developing maternal infection (odds ratio [OR] 3.14, 95% confidence interval [CI] 1.46-6.74) and congenital anomalies (OR 6.97, 95% CI 2.57-18.95); however, due to the small number of cases these results should be interpreted with caution.
CONCLUSIONS
Pregnancy outcomes of women with panhypopituitarism are comparable to those of the general population. Further studies are needed to assess the risk of congenital anomalies and maternal infection in pregnant women with panhypopituitarism.
Topics: Female; Humans; Hypopituitarism; Infant, Newborn; Placenta; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Retrospective Studies
PubMed: 35031238
DOI: 10.1016/j.rbmo.2021.10.018 -
The Medical Journal of Malaysia Jul 2021Madam LPS, a 69 years old lady complained of left eye blurring of vision since January 2017. It was associated with left orbital swelling with chemosis, eye redness,...
Madam LPS, a 69 years old lady complained of left eye blurring of vision since January 2017. It was associated with left orbital swelling with chemosis, eye redness, epiphora, several episodes of self-limiting epistaxis and bilateral ophthalmoplegia. Other neurological examinations and cerebellar systems were intact. Magnetic Resonance Imaging (MRI) Brain and Orbit were performed, depicting a sellar mass with suprasellar extension with blood investigations results showed panhypopituitarism. She underwent bilateral orbital decompression. Trans-nasal endoscopic biopsy showed suppurative granulomatous lesion, which cultured Candida Albicans and Candida Galbrata. She was started on antifungal and hormonal replacement therapy for panhypopituitarism. Unfortunately, she did not respond well to treatment as repeated MRI Brain on December 2018 showed increase in size of sellar mass causing obstructive hydrocephalus and increasing size of left orbital lesion. She was counselled for another debulking surgery with a ventriculoperitoneal (VP) shunt. HPE taken were reported as chronic inflammatory process in favour to fungal infection. Pituitary infections may mimic pituitary mass. Some may exhibit symptoms of panhypopituitarism as well. Thus, physical examination, MRI brain imaging as well as HPE of biopsy are important aids to achieve diagnosis. Optimal treatment of fungal pituitary abscess includes transsphenoidal surgery combined with antifungal therapy.
Topics: Aged; Female; Humans; Hypopituitarism; Magnetic Resonance Imaging; Mycoses; Pituitary Diseases; Pituitary Gland
PubMed: 34305132
DOI: No ID Found