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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 -
European Journal of Case Reports in... 2021Pituitary adenomas are the most common cause of hypopituitarism associated with pituitary enlargement, but other aetiologies have been emerging, namely immune checkpoint...
UNLABELLED
Pituitary adenomas are the most common cause of hypopituitarism associated with pituitary enlargement, but other aetiologies have been emerging, namely immune checkpoint inhibitor-induced hypophysitis (ipilimumab, nivolumab and pembrolizumab). Secukinumab is a recently approved human monoclonal antibody used for the treatment of psoriasis, with no know reported cases of hypophysitis. We describe a challenging case of panhypopituitarism in a patient with a pituitary incidentaloma and a temporal relationship between secukinumab initiation and the manifestation of clinical features suggestive of hypopituitarism. In such intricate work-up, the differential diagnoses should be carefully considered, taking into account the therapeutic and prognostic implications.
LEARNING POINTS
Pituitary adenomas are the leading cause of hypopituitarism associated with pituitary enlargement, but clinicians should be aware of non-tumoural causes such as hypophysitis.Drug-induced hypophysitis has been described with immune checkpoint inhibitors used for diverse types of malignancies, but there is no evidence of an association between hypophysitis and the novel antipsoriatic agent, secukinumab.The differential diagnosis of hypopituitarism requires careful investigation so that management is appropriate and prognosis is improved.
PubMed: 35059351
DOI: 10.12890/2021_003099 -
The Journal of Clinical Endocrinology... Apr 2023Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a...
Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a classic cause of HO. HO often goes unnoticed initially as patients, families, and medical teams are focused on oncologic treatments and management of panhypopituitarism. HO is characterized by rapid weight gain in the first year after hypothalamic destruction followed by refractory obesity due to an energy imbalance of decreased energy expenditure without decreased food intake. Currently available pharmacotherapies are less effective in HO than in common obesity. While not a cure, dietary interventions, pharmacotherapy, and bariatric surgery can mitigate the effects of HO. Early recognition of HO is necessary to give an opportunity to intervene before substantial weight gain occurs. Our goal for this article is to review the pathophysiology of HO and to discuss available treatment options and future directions for prevention and treatment.
Topics: Humans; Pituitary Neoplasms; Hypothalamic Diseases; Craniopharyngioma; Obesity; Weight Gain
PubMed: 36413492
DOI: 10.1210/clinem/dgac678 -
Case Reports in Genetics 2017Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the...
Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.
PubMed: 28255477
DOI: 10.1155/2017/4364216 -
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 -
Brain Tumor Research and Treatment Jul 2023The World Health Organization (WHO) updated the classification of pituitary tumors in 2022. The new classification presents detailed histological subtyping of a... (Review)
Review
The World Health Organization (WHO) updated the classification of pituitary tumors in 2022. The new classification presents detailed histological subtyping of a pituitary neuroendocrine tumor (PitNET) based on the tumor cell lineage, cell type, and related characteristics. The immunohistochemistry for pituitary transcription factors (PIT1, TPIT, SF1, GATA3, and ERα) is routinely needed in this classification. The controversy regarding the change of behavior code of all PitNET/pituitary adenoma from "0" for benign tumors to "3" for primary malignant tumors is a topic of debate among experts, nowadays. Some authors represent that pituitary adenoma has a tendency for hemorrhage and necrosis and frequent invasion of the cavernous sinus. However, most small PitNET/pituitary adenoma do not need any treatment because of benign biologic behavior or less than 5% recurrence after gross total removal. Pituitary apoplexy is also benign nature but has a tendency of cranial nerve compression or panhypopituitarism. Most of cavernous invasion is compression of the cavernous sinus. Aggressive PitNET/pituitary adenoma with malignant biological behavior is less than 1%.
PubMed: 37550816
DOI: 10.14791/btrt.2023.0015 -
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 -
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 -
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 -
Annals of African Medicine 2021While hypopituitarism is known to be associated with increased cardiovascular morbidity and mortality, panhypopituitarism as a complication of myocardial infarction (MI)...
While hypopituitarism is known to be associated with increased cardiovascular morbidity and mortality, panhypopituitarism as a complication of myocardial infarction (MI) is very rare. Here, we report a case of rapidly developing empty sella syndrome with florid manifestations of panhypopituitarism after MI (due to critical stenosis in the left anterior descending artery) complicated by cardiogenic shock in a 65-year-old man. The patient was initially stabilized with conservative management of non-ST-elevated MI and cardiogenic shock, but after initial improvement, he again deteriorated with refractory shock (not adequately responding to vasopressors), seizures, hypoglycemia, hyponatremia, hyperkalemia, and metabolic acidosis. After ruling out recurrent cardiogenic shock or other causes of refractory hypotension, panhypopituitarism was diagnosed with the help of hormonal assays and imaging. With no prior evidence of hypopituitarism, we suspect that panhypopituitarism developed due to acute pituitary apoplexy secondary to initial cardiogenic shock. The patient was successfully survived by the emergency endocrine management followed by secondary coronary angioplasty.
Topics: Aged; Heart Failure; Humans; Hypopituitarism; Male; Myocardial Infarction
PubMed: 34213484
DOI: 10.4103/aam.aam_66_19