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Nature Reviews. Endocrinology May 2024Polyuria-polydipsia syndrome can be caused by central diabetes insipidus, nephrogenic diabetes insipidus or primary polydipsia. To avoid confusion with diabetes... (Review)
Review
Polyuria-polydipsia syndrome can be caused by central diabetes insipidus, nephrogenic diabetes insipidus or primary polydipsia. To avoid confusion with diabetes mellitus, the name 'central diabetes insipidus' was changed in 2022 to arginine vasopressin (AVP) deficiency and 'nephrogenic diabetes insipidus' was renamed as AVP resistance. To differentiate the three entities, various osmotic and non-osmotic copeptin-based stimulation tests have been introduced in the past decade. The hypertonic saline test plus plasma copeptin measurement emerged as the test with highest diagnostic accuracy, replacing the water deprivation test as the gold standard in differential diagnosis of the polyuria-polydipsia syndrome. The mainstay of treatment for AVP deficiency is AVP replacement with desmopressin, a synthetic analogue of AVP specific for AVP receptor 2 (AVPR2), which usually leads to rapid improvements in polyuria and polydipsia. The main adverse effect of desmopressin is dilutional hyponatraemia, which can be reduced by regularly performing the so-called desmopressin escape method. Evidence from the past few years suggests an additional oxytocin deficiency in patients with AVP deficiency. This potential deficiency should be further evaluated in future studies, including feasible provocation tests for clinical practice and interventional trials with oxytocin substitution.
PubMed: 38693275
DOI: 10.1038/s41574-024-00985-x -
European Journal of Medical Research Apr 2024Pituitary surgery involves special conditions for the anaesthetist due to the anatomical localisation and the role of the pituitary gland in hormonal balance. The aim of...
INTRODUCTION
Pituitary surgery involves special conditions for the anaesthetist due to the anatomical localisation and the role of the pituitary gland in hormonal balance. The aim of this study was to retrospectively investigate the effect of TSH levels on perioperative complication rates in patients undergoing pituitary surgery.
METHODS
In this study, patients who underwent pituitary surgery at Izmir Katip Celebi University Ataturk Training and Research Hospital between January 2017 and November 2022 were retrospectively screened. Two patients out of the 137 were excluded from the study as they underwent simultaneous aneurysm surgery along with pituitary tumor surgery. A total of 135 patients meeting the criteria were analyzed. Patients were divided into three groups according to TSH levels. Perioperative complication rates and mortality rates were compared between the three groups.
FINDINGS
The study included a total of 135 patients, with an age range of 16-76 years. Among the groups with low-normal-high TSH levels, there were no statistically significant difference observed, in postoperative complications, such as epistaxis, rhinorrhea, postoperative nausea/vomiting, seizures, hypertension, and hypotension. When looking at the incidence of postoperative diabetes insipidus, a significant difference was found between the groups. When examining the mortality rates on the 28th day, a significant difference was found between the groups, with a mortality rate of 25% in the high TSH group (p < 0.5).
CONCLUSIONS
The risk of perioperative mortality is higher in patients with TSH levels above normal.
Topics: Humans; Middle Aged; Adult; Male; Female; Thyrotropin; Aged; Postoperative Complications; Adolescent; Retrospective Studies; Young Adult; Pituitary Gland; Pituitary Neoplasms; Preoperative Period
PubMed: 38689357
DOI: 10.1186/s40001-024-01860-1 -
Revista Medica de Chile May 2023Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate...
Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.
Topics: Humans; Male; Hypopituitarism; Adult; Histiocytosis, Langerhans-Cell; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 38687548
DOI: 10.4067/s0034-98872023000500659 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... May 2024To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1).
OBJECTIVE
To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1).
METHODS
A pedigree which was evaluated at the Department of Endocrinology, General Hospital of the Central Theater Command on December 3, 2020 was selected as the study subject. Clinical phenotype and genetic features of the proband were analyzed. Whole exome sequencing was employed to screen for genetic variants in the proband, and Sanger sequencing was used to verify the candidate variants in the proband's mother, uncle, maternal aunt, and paternal aunt. Pathogenicity analysis was also conducted for the candidate variants.
RESULTS
The proband, a 16-year-old male, had shown distinctive facial features including mildly prominent eyebrows, down-slanting palpebral fissures, hypertelorism, and depressed nasal bridge. Additionally, he had clubbing of bilateral thumbs and big toes, and central type diabetes insipidus. Genetic sequencing revealed that he has harbored a heterozygous c.586C>T (p.R196W) missense variant of the FLNA gene (NM_001110556.2), which was also carried by his mother and uncle. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as likely pathogenic (PM1+PM2_Supporting+PP2+PP3+PS4 Supporting).
CONCLUSION
The heterozygous c.586C>T (p.R196W) variant of the FLNA gene probably underlay the pathogenesis in this OPD1 family. The central type diabetes insipidus in the proband may represent a newly discovered phenotype of OPD1. Above finding has contributed crucial information for the comprehensive understanding of the clinical manifestations and pathogenic mechanisms of OPD1.
Topics: Adolescent; Female; Humans; Male; China; East Asian People; Exome Sequencing; Filamins; Mutation, Missense; Pedigree; Phenotype
PubMed: 38684300
DOI: 10.3760/cma.j.cn511374-20230406-00189 -
Frontiers in Endocrinology 2024Craniopharyngioma (CP), although slow growing and histologically benign, has high morbidity, mostly related to hypothalamus-pituitary dysfunction and electrolyte...
BACKGROUND
Craniopharyngioma (CP), although slow growing and histologically benign, has high morbidity, mostly related to hypothalamus-pituitary dysfunction and electrolyte imbalance. Increased risk of vascular complications has been described. However, data are still poor, especially in the paediatric population. The aim of our study was to evaluate the occurrence, timing, and predisposing factors of deep venous thrombosis (DVT) and other vascular alterations in neurosurgical paediatric CP patients.
MATERIALS AND METHODS
In a single-centre, retrospective study, we investigated 19 CP patients (11 males, 8 females, mean age 10.5 ± 4.3 years), who underwent neurosurgery between December 2016 and August 2022, referred to Meyer Children's Hospital IRCCS in Florence.
RESULTS
Five patients (26.3%) presented vascular events, which all occurred in connection with sodium imbalances. Three DVT (two with associated pulmonary embolism, in one case leading to death) developed in the post-operative period, most frequently at 7-10 days. Elevated D-dimers, a reduced partial activated thrombin time and a prolonged C-reactive protein increase were highly related to thrombotic vascular events. One case of posterior cerebral artery pseudoaneurysm was described soon after neurosurgery, requiring vascular stenting. Superficial vein thrombophlebitis was a late complication in one patient with other predisposing factors.
CONCLUSION
CP patients undergoing neurosurgery are at risk of developing DVT and vascular alterations, thus careful follow-up is mandatory. In our study, we found that the phase of transition from central diabetes insipidus to a syndrome of inappropriate antidiuretic hormone secretion may be a period of significant risk for DVT occurrence. Careful vascular follow-up is mandatory in CP-operated patients.
Topics: Humans; Craniopharyngioma; Female; Male; Child; Retrospective Studies; Pituitary Neoplasms; Adolescent; Postoperative Complications; Venous Thrombosis; Neurosurgical Procedures; Child, Preschool; Vascular Diseases; Follow-Up Studies
PubMed: 38681768
DOI: 10.3389/fendo.2024.1292025 -
Neurological Sciences : Official... Apr 2024
PubMed: 38676819
DOI: 10.1007/s10072-024-07547-z -
Journal of Neurosurgery Apr 2024Tumors located in the retrochiasmatic region with extension to the third ventricle might be difficult to access when the pituitary-chiasmatic corridor is narrow....
OBJECTIVE
Tumors located in the retrochiasmatic region with extension to the third ventricle might be difficult to access when the pituitary-chiasmatic corridor is narrow. Similarly, tumor extension into the interpeduncular and retrosellar space poses a major surgical challenge. Pituitary transposition techniques have been developed to gain additional access. However, when preoperative pituitary function is already impaired or the risk of postoperative panhypopituitarism (PH) is considered to be particularly high, removal of the pituitary gland (PG) might be the preferred option to increase the working corridor. The aim of this study was to describe the relevant surgical anatomy, operative steps, and clinical experience with the endoscopic endonasal pituitary sacrifice (EEPS) and transsellar approach.
METHODS
This study comprised anatomical dissections to highlight the relevant surgical steps and a retrospective case series reporting clinical characteristics, indications, and outcomes of patients who underwent EEPS. The surgical technique is as follows: both lateral opticocarotid recesses are exposed laterally, the limbus sphenoidale superiorly, and the sellar floor inferiorly. After opening the dura, the PG is detached circumferentially and mobilized off the medial walls of the cavernous sinuses. The descending branches of the superior hypophyseal artery are coagulated, and the stalk is transected. After removal of the PG, drilling of the dorsum sellae and bilateral posterior clinoidectomies are performed to gain access to the hypothalamic region, interpeduncular, and prepontine cisterns.
RESULTS
From 2018 to 2023, 11 patients underwent EEPS. The cohort comprised mostly tuberoinfundibular craniopharyngiomas (n = 8, 73%). Seven (64%) patients had partial or complete anterior PG dysfunction preoperatively, while 4 (36%) had preoperative diabetes insipidus. Because of the specific tumor configuration, the chance of preserving endocrine function was estimated to be very low in patients with intact function. The main reasons for pituitary sacrifice were impaired visibility and surgical accessibility to the retrochiasmatic and retrosellar spaces. Gross-total tumor resection was achieved in 10 (91%) patients and near-total resection in 1 (9%) patient. Two (18%) patients experienced a postoperative CSF leak, requiring surgical revision.
CONCLUSIONS
When preoperative pituitary function is already impaired or the risk for postoperative PH is considered particularly high, the EEPS and transsellar approach appears to be a feasible surgical option to improve visibility and accessibility to the retrochiasmatic hypothalamic and retrosellar spaces, thus increasing tumor resectability.
PubMed: 38669701
DOI: 10.3171/2024.1.JNS232267 -
Acta Neurologica Belgica Apr 2024Craniopharyngioma (CP), a rare benign intracranial tumor, is still a major clinical challenge. There are two major histologic phenotypes: papillary CP (PCP) and...
Craniopharyngioma (CP), a rare benign intracranial tumor, is still a major clinical challenge. There are two major histologic phenotypes: papillary CP (PCP) and adamantinomatous CP (ACP). This research aimed to assess the occurrence of central diabetes insipidus (antidiuretic hormone deficiency), the level of prolactin, and the stalk effect between PCP and ACP subtypes prior to and after surgery. Clinical data of CP patients before and after surgical resection of the tumor were analyzed retrospectively. These patients were divided into PCP and ACP groups, in accordance with the pathologic classification. The data of prolactin level, 24-h urinary volume, urine specific gravity and electrolyte status before and after surgery were evaluated in these two CP subtypes. A total of 86 CP patients were included, among which 28 patients were PCP and 58 were ACP. Compared to those prior to surgery, 24-h urine volume, serum sodium and serum chlorine concentrations were obviously increased, while prolactin and urine specific gravity were remarkably decreased in all the CP patients after surgery. Compared to those before operation, prolactin level and urine specific gravity were decreased, and 24-h urine volume, serum sodium and serum chlorine were elevated after operation in ACP patients. Moreover, after surgery, 24-h urine volume in PCP patients was higher than that in ACP group. The central diabetes insipidus in patients with CP was aggravated after surgical resection, especially in ACP patients. Moreover, the central diabetes insipidus of PCP subtype was more serious than that of ACP subtype.
PubMed: 38669000
DOI: 10.1007/s13760-024-02558-1 -
Endocrine Apr 2024Non-functioning pituitary adenomas (NFPAs) are often associated with hyperprolactinemia, which is known as the "stalk effect". However, the relationships between...
Clinical and radiographic characteristics of patients with non-functioning pituitary adenomas categorized according to their serum prolactin concentration: novel predictors of postoperative transient diabetes insipidus following surgery.
PURPOSE
Non-functioning pituitary adenomas (NFPAs) are often associated with hyperprolactinemia, which is known as the "stalk effect". However, the relationships between hyperprolactinemia and the radiographic characteristics of the tumor that affects the pituitary stalk have not been well characterized. We aimed to identify the differences in the clinical and radiographic characteristics of patients with NFPA, with and without hyperprolactinemia.
METHODS
We enrolled 107 patients with NFPA and allocated them to hyperprolactinemia and non-hyperprolactinemia groups using two different cut-off values: (1) the upper limit of the normal reference range, adjusted for sex and menopausal status, and (2) the upper quartile across the cohort, and compared their clinical and radiographic characteristics. These analyses were conducted to clarify the relationship between the "stalk effect" and the postoperative change in antidiuretic hormone secretion.
RESULTS
The specific radiographic characteristics of the patients included the presence of a cystic or hemorrhagic tumor and the presence of pituitary stalk deviation, which were more frequent in the patients with hyperprolactinemia. Interestingly, the incidence of postoperative transient diabetes insipidus was statistically significantly higher in the hyperprolactinemia group (≥40 ng/mL) and in the group with radiologic evidence of stalk deviation, which were shown to be independent risk factors on multivariate analysis.
CONCLUSION
The presence of a "stalk effect" was associated with a higher risk of postoperative transient diabetes insipidus, reflecting perioperative pituitary stalk dysfunction following NFPA surgery, especially in patients with serum prolactin concentrations ≥40 ng/mL and radiologic evidence of stalk deviation.
PubMed: 38664336
DOI: 10.1007/s12020-024-03835-y