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Medicina 2023Primary hypophysitis (PH) is a rare disease that represents a challenge among differential diagnosis and management. Our aim was to describe clinical characteristics,...
INTRODUCTION
Primary hypophysitis (PH) is a rare disease that represents a challenge among differential diagnosis and management. Our aim was to describe clinical characteristics, diagnostic criteria and different treatment outcomes in patients with PH. Multicentric, retrospective study. Clinical presentation, endocrine function, magnetic resonance imaging findings, visual field defects at diagnosis and treatment outcomes were recorded.
METHODS
Twenty-eight patients (23 women), with PH were included. Median age: 37.
RESULTS
The most frequent symptoms: headache: 68%, polyuria-polydipsia: 50% and visual disturbances: 48%. At diagnosis, anterior pituitary deficiency was present in 71%, being hypogonadotrophic hypogonadism the most frequent manifestation. The radiological findings: symmetric lesion: 78.5%, homogeneous enhancement: 78.5% and pituitary stalk thickening: 70%. Association with pregnancy or puerperium was found in 4/23 women (17%). Fourteen patients did not receive any treatment ("wait and see" group), 8 underwent surgery for mass reduction or resection and 6 were treated with immunosuppression therapy. Among 15 patients with histopathological diagnosis, 9 were lymphocytic hypophysitis, 5 IgG4 related hypophysitis and 1 xanthomatous hypophysitis. Thirteen were diagnosed by established clinical criteria. Mass reduction was observed in 43% of "wait and see group" patients, 62.5% of operated patients and 50% with immunosuppression therapy. Compressive symptoms showed improvement in the 3 groups, with modest effect on anterior pituitary function, diabetes insipidus did not resolve in any patients.
DISCUSSION
In patients without severe compressive symptoms, we adopted a "wait and see" approach. In patients with uncertain diagnosis of PH or severe compressive symptoms, transsphenoidal surgery was the best option.
Topics: Pregnancy; Humans; Female; Adult; Retrospective Studies; Hypophysitis; Pituitary Gland; Hypopituitarism; Autoimmune Hypophysitis; Magnetic Resonance Imaging
PubMed: 37870332
DOI: No ID Found -
Journal of Neuroendocrinology Dec 2021Vasopressin-synthesizing neurons are located in several brain regions, including the hypothalamic paraventricular nucleus (PVN), supraoptic nucleus (SON) and...
Vasopressin-synthesizing neurons are located in several brain regions, including the hypothalamic paraventricular nucleus (PVN), supraoptic nucleus (SON) and suprachiasmatic nucleus (SCN). Vasopressin has been shown to have various functions in the brain, including social recognition memory, stress responses, emotional behaviors and circadian rhythms. The precise physiological functions of vasopressin-synthesizing neurons in specific brain regions remain to be clarified. Conditional ablation of local vasopressin-synthesizing neurons may be a useful tool for investigation of the functions of vasopressin neurons in the regions. In the present study, we characterized a transgenic rat line that expresses a mutated human diphtheria toxin receptor under control of the vasopressin gene promoter. Under a condition of salt loading, which activates the vasopressin gene in the hypothalamic PVN and SON, transgenic rats were i.c.v. injected with diphtheria toxin. Intracerebroventricular administration of diphtheria toxin after salt loading depleted vasopressin-immunoreactive cells in the hypothalamic PVN and SON, but not in the SCN. The number of oxytocin-immunoreactive cells in the hypothalamus was not significantly changed. The rats that received i.c.v. diphtheria toxin after salt loading showed polydipsia and polyuria, which were rescued by peripheral administration of 1-deamino-8-d-arginine vasopressin via an osmotic mini-pump. Intrahypothalamic administration of diphtheria toxin in transgenic rats under a normal hydration condition reduced the number of vasopressin-immunoreactive neurons, but not the number of oxytocin-immunoreactive neurons. The transgenic rat model can be used for selective ablation of vasopressin-synthesizing neurons and may be useful for clarifying roles of vasopressin neurons at least in the hypothalamic PVN and SON in the rat.
Topics: Animals; Apoptosis; Diphtheria Toxin; Gene Deletion; Gene Transfer Techniques; Genes, Transgenic, Suicide; Heparin-binding EGF-like Growth Factor; Male; Neurons; Paraventricular Hypothalamic Nucleus; Rats; Rats, Inbred Lew; Rats, Transgenic; Supraoptic Nucleus; Vasopressins
PubMed: 34748241
DOI: 10.1111/jne.13057 -
European Journal of Dentistry Jul 2023This article identifies undiagnosed DM (UDM) cases in the Pakistani population by perceiving the signs and symptoms of DM and associating them with oral manifestations.
OBJECTIVES
This article identifies undiagnosed DM (UDM) cases in the Pakistani population by perceiving the signs and symptoms of DM and associating them with oral manifestations.
MATERIAL AND METHODS
In this cross-sectional study, patients showing at least three or more classical or warning signs like polydipsia, polyuria, polyphagia, and general weakness were considered UDM cases. Detailed oral examination for gingivitis, periodontitis, halitosis, xerostomia, and tongue manifestations was done followed by the hemoglobin A1c (HbA1c) analysis.
RESULTS
Out of 5,878 patients, 214 UDM cases were identified, where 31.8% and 39.7% of the patients were diagnosed as prediabetics and diabetics, respectively, based on HbA1c analysis. Prevalence of gingivitis (97.6%), fissured tongue (91.8%), generalized periodontitis (85.9%), thick saliva (87.1%), xerostomia (84.7%), burning mouth syndrome (63.5%), yellow discoloration of tongue (57.6%), and ecchymosis/ulcers (43.5%) were more in diabetics as compared to prediabetic patients and normal population.
CONCLUSION
The oral manifestations can be crucial for identifying UDM cases. Dentists can play a pivotal role by taking detailed history and thorough oral examination. If three or more symptoms as concluded above are present, an HbA1c analysis should be conducted to prevent preop and postop complications associated with DM.
PubMed: 36220121
DOI: 10.1055/s-0042-1755553 -
American Journal of Physiology. Renal... Nov 2020Nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to the antidiuretic hormone arginine vasopressin (AVP), which leads to polyuria, plasma... (Review)
Review
Nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to the antidiuretic hormone arginine vasopressin (AVP), which leads to polyuria, plasma hyperosmolarity, polydipsia, and impaired quality of living. Inherited forms are caused by X-linked loss-of-function mutations in the gene encoding the vasopressin 2 receptor (V2R) or autosomal recessive/dominant mutations in the gene encoding aquaporin 2 (AQP2). A common acquired form is lithium-induced NDI. AVP facilitates reabsorption of water through increased abundance and insertion of AQP2 in the apical membrane of principal cells in the collecting ducts. In X-linked NDI, V2R is dysfunctional, which leads to impaired water reabsorption. These patients have functional AQP2, and thus the challenge is to achieve AQP2 membrane insertion independently of V2R. The current treatment is symptomatic and is based on distally acting diuretics (thiazide or amiloride) and cyclooxygenase inhibitors (indomethacin). This mini-review covers published data from trials in preclinical in vivo models and a few human intervention studies to improve NDI by more causal approaches. Promising effects on NDI in preclinical studies have been demonstrated by the use of pharmacological approaches with secretin, Wnt5a, protein kinase A agonist, fluconazole, prostaglandin E EP2 and EP4 agonists, statins, metformin, and soluble prorenin receptor agonists. In patients, only casuistic reports have evaluated the effect of statins, phosphodiesterase inhibitors (rolipram and sildenafil), and the guanylate cyclase stimulator riociguat without amelioration of symptoms. It is concluded that there is currently no established intervention that causally improves symptoms or quality of life in patients with NDI. There is a need to collaborate to improve study quality and conduct formal trials.
Topics: Animals; Arginine Vasopressin; Diabetes Insipidus, Nephrogenic; Diabetes Mellitus; Humans; Polyuria; Protein Transport; Receptors, Vasopressin
PubMed: 32924547
DOI: 10.1152/ajprenal.00339.2020 -
Molecular Genetics & Genomic Medicine Aug 2022Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD...
BACKGROUND
Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with SLC9A3 variants that impair the function of the encoded intestinal sodium-proton exchanger 3 (NHE3).
METHODS
We report a 4-year-old patient, born prematurely in the 35th week of gestation, with antenatal polyhydramnios and dilated intestinal loops, and with diarrhea of congenital onset, 2-6 times a day, and with polydipsia. She thrived age-appropriately under a normal family diet. Serum sodium levels were repeatedly normal but urinary sodium excretion was low. Exome sequencing revealed compound heterozygous variants in SLC9A3 as the likely cause of the congenital diarrhea.
RESULTS
While exome sequencing did not reveal pathogenic or likely pathogenic variants in other genes that cause syndromic or non-syndromic forms of congenital and intractable diarrheas, we identified novel compound heterozygous variants in SLC9A3, a complex allele with two missense changes, NP_004165.2:p.[Ser331Leu;Val449Ile] and in-trans the missense variant p.(Phe451Ser).
CONCLUSION
The clinical phenotype here appears to localize to the milder end of the known CSD spectrum, and the identified variants suggest that this is the twelfth patient reported to date with CSD due to mutations in SLC9A3.
Topics: Abnormalities, Multiple; Diarrhea; Female; Humans; Metabolism, Inborn Errors; Pregnancy; Sodium
PubMed: 35775128
DOI: 10.1002/mgg3.2000 -
JCEM Case Reports May 2023Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with...
Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with few reports into the longer term outcomes for these patients. A 46-year-old male presented with a 10-day history of delirium, fever, and polydipsia. Initial computed tomography of the brain and cerebrospinal fluid cell counts were normal. Magnetic resonance imaging showed T2-hyperintensity affecting bilateral infundibuli, hypothalami, subthalamic nuclei, and optic radiations. Serial cerebrospinal fluid detected HSV1 DNA and we diagnosed him with HSV diencephalitis. He had marked biochemical abnormalities from the outset, with dramatic changes in serum sodium levels. He was ultimately diagnosed with permanent central diabetes insipidus and panhypopituitarism following evidence of central hypothyroidism, hypogonadotrophic hypogonadism, and a flat cortisol response to an insulin tolerance test. Neurocognitive recovery took several months, but subtle deficits in executive function and information processing remain. Hypothalamic hyperphagia developed as well as temperature dysregulation. He requires lifelong hormonal replacement and is undergoing regular endocrine follow up. This case highlights hypothalamic-pituitary dysfunction as a rare endocrine complication of HSV diencephalitis and illustrates the complexity of managing this in the long term.
PubMed: 37908572
DOI: 10.1210/jcemcr/luad050 -
Pediatrics and Neonatology Mar 2021Craniopharyngiomas are benign tumors of embryologic origin located in the sellar region. Patients have both neurological and endocrinological symptoms. Symptoms may be...
BACKGROUND
Craniopharyngiomas are benign tumors of embryologic origin located in the sellar region. Patients have both neurological and endocrinological symptoms. Symptoms may be subtle in the early clinical course, which leads to delayed diagnosis. This study evaluated the clinical and endocrinological manifestations of childhood-onset craniopharyngioma.
METHODS
We retrospectively reviewed medical records of 45 children diagnosed as having craniopharyngioma between 1995 and 2019. We collected data on clinical symptoms and signs, height, weight, biochemical and hormone data, images, operation records, and pathology reports. A three-graded classification system was applied to define the degree of hypothalamic damage (HD). We analyzed clinical and endocrinological manifestations among patients with and without obesity, with short and normal stature, and with differing degrees of HD.
RESULTS
Clinical endocrinologic manifestations included adrenocortical insufficiency (42%), central hypothyroidism (37%), short stature (31%), obesity (20%), weight < third percentile (19%), and polyuria or polydipsia (11%). The distribution of height and body mass index (BMI) revealed that a relatively large proportion of patients had short stature and obesity compared to the general population. Patients with grade 2 HD were significantly taller (height median SDS -0.07 vs. -2.05, P = 0.032), and had higher BMI (BMI median standard deviation scores [SDS] 1.14 vs. -0.54, P = 0.039) and shorter time to diagnosis (0.27 vs. 8.29 months, P = 0.007) than were those in the grade 0-1 HD. Delayed diagnosis was associated with short stature (6/7 vs. 4/26, P = 0.001) and no initial neurological symptoms (4/7 vs. 2/28, P = 0.009).
CONCLUSION
Growth patterns may change variously depend on the tumor location and the severity of hypothalamic damage. Therefore, monitoring possible neurological symptoms and evaluating the growth patterns of patients during regular outpatient clinical visits are paramount.
Topics: Addison Disease; Adolescent; Body Height; Child; Child, Preschool; Craniopharyngioma; Female; Humans; Hypothyroidism; Infant; Male; Pediatric Obesity; Pituitary Neoplasms; Polydipsia; Polyuria; Retrospective Studies; Thinness
PubMed: 33376065
DOI: 10.1016/j.pedneo.2020.08.014 -
Frontiers in Endocrinology 2021Diabetic ketoacidosis (DKA) is a potentially life-threatening complication of type 1 diabetes (T1D), and a leading cause of death in children aged <15 years with...
BACKGROUND
Diabetic ketoacidosis (DKA) is a potentially life-threatening complication of type 1 diabetes (T1D), and a leading cause of death in children aged <15 years with new-onset T1D.
AIMS
i) to assess the incidence of DKA in children and adolescents newly diagnosed with T1D over a 10-year period at a large regional center in China; and ii) to examine the clinical symptoms and demographic factors associated with DKA and its severity at diagnosis.
METHODS
We carried out a retrospective audit of a regional center, encompassing all youth aged <16 years diagnosed with T1D in 2009-2018 at the Children's Hospital, Zhejiang University School of Medicine (Hangzhou, China). DKA and its severity were classified according to ISPAD 2018 guidelines.
RESULTS
681 children were diagnosed with T1D, 50.1% having DKA at presentation (36.0% mild, 30.0% moderate, and 33.9% severe DKA). The number of patients diagnosed with T1D progressively rose from approximately 39 cases/year in 2009-2010 to 95 cases/year in 2017-2018 (≈2.5-fold increase), rising primarily among children aged 5-9 years. DKA incidence was unchanged but variable (44.8% to 56.8%). At T1D diagnosis, 89% of patients reported polyuria and 91% polydipsia. Children presenting with DKA were more likely to report vomiting, abdominal pain, and particularly fatigue. DKA was most common among the youngest children, affecting 4 in 5 children aged <2 years (81.4%), in comparison to 53.3%, 42.7%, and 49.3% of patients aged 2-4, 5-9, and ≥10 years, respectively. Children with severe DKA were more likely to report vomiting, fatigue, and abdominal pain, but less likely to report polyuria, polydipsia, and polyphagia than those with mild/moderate DKA. Rates of severe DKA were highest in children aged <2 years (51.1%).
CONCLUSIONS
The number of children diagnosed with T1D at our regional center increased over the study period, but DKA rates were unchanged. With 9 of 10 children reporting polyuria and polydipsia prior to T1D diagnosis, increasing awareness of this condition in the community and among primary care physicians could lead to earlier diagnosis, and thus potentially reduce rates of DKA at presentation.
Topics: Adolescent; Child; Child, Preschool; China; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Early Diagnosis; Fatigue; Hospitals, Pediatric; Humans; Incidence; Polydipsia; Polyuria; Primary Health Care; Retrospective Studies; Risk Factors
PubMed: 33986725
DOI: 10.3389/fendo.2021.653519 -
Scientific Reports May 2021The aim of this study was to correlate three commercially available copeptin assays and their diagnostic accuracy in the differential diagnosis of the... (Clinical Trial)
Clinical Trial
The aim of this study was to correlate three commercially available copeptin assays and their diagnostic accuracy in the differential diagnosis of the polyuria-polydipsia syndrome. Analyzed data include repeated copeptin measures of 8 healthy volunteers and 40 patients with polyuria-polydipsia syndrome undergoing osmotic stimulation and of 40 patients hospitalized with pneumonia. Copeptin was measured using the automated Brahms KRYPTOR, the manual Brahms LIA and the manual Cloud Clone ELISA assay. Primary outcome was the interrater correlation coefficient (ICC) and diagnostic accuracy in the polyuria-polydipsia syndrome of the three assays. In healthy volunteers, there was a moderate correlation for the KRYPTOR and LIA (ICC 0.74; 95% CI 0.07 to 0.91), and a poor correlation for the KRYPTOR and ELISA (ICC 0.07; 95% CI - 0.06 to 0.29), as for the LIA and ELISA (ICC 0.04; 95% CI - 0.04 to 0.17). The KRYPTOR had the highest diagnostic accuracy (98% (95% CI 83 to100)), comparable to the LIA (88% (95% CI 74 to 100)), while the ELISA had a poor diagnostic accuracy (55% (95% CI 34 to 68)) in the differential diagnosis of the polyuria-polydipsia syndrome. The KRYPTOR and LIA yield comparable copeptin concentrations and high diagnostic accuracy, while the ELISA correlates poorly with the other two assays and shows a poor diagnostic accuracy for polyuria-polydipsia patients. The current copeptin cut-off is valid for the KRYPTOR and LIA assay. Our results indicate that interpretation with other assays should be performed with caution and separate validation studies are required before their use in differentiating patients with polyuria-polydipsia syndrome.Trial registration: NCT02647736 January 6, 2016/NCT01940614 September 12, 2013/NCT00973154 September 9, 2009.
Topics: Adult; Cohort Studies; Diagnosis, Differential; Female; Glycopeptides; Humans; Male; Middle Aged; Polydipsia; Polyuria; Young Adult
PubMed: 33980941
DOI: 10.1038/s41598-021-89505-9 -
The Canadian Veterinary Journal = La... Apr 2020A 6-year-old, spayed female, mixed breed boxer dog was presented for decreased appetite, polyuria and polydipsia, and lethargy 9 days after treatment with ketoconazole...
A 6-year-old, spayed female, mixed breed boxer dog was presented for decreased appetite, polyuria and polydipsia, and lethargy 9 days after treatment with ketoconazole for pododermatitis. Ketoconazoleinduced hypoadrenocorticism was confirmed with an adrenocorticotropic hormone (ACTH) stimulation test, and ketoconazole was discontinued. Clinical signs resolved 48 hours after initiation of prednisone, and resolution of glucocorticoid insufficiency was confirmed with a repeat ACTH stimulation test 48 hours after a 10-day course of prednisone. Glucocorticoid insufficiency after administration of a commonly used dermatological dose of ketoconazole has not been previously reported in veterinary medicine but should be considered in patients with adverse effects while receiving ketoconazole. Key clinical message: Iatrogenic hypoadrenocorticism may occur in dogs treated with commonly used dermatological doses of ketoconazole. The disease is likely transient, but steroid supplementation may be required in some patients to resolve clinical signs, especially in the presence of concurrent illness or stress.
Topics: Adrenal Insufficiency; Adrenocorticotropic Hormone; Animals; Dog Diseases; Dogs; Female; Ketoconazole; Malassezia
PubMed: 32255827
DOI: No ID Found