Syndrome of inappropriate secretion of antidiuretic hormone as an initial sign of primary central nervous system lymphomas in the hypothalamus.

BACKGROUND: Primary central nervous system lymphoma (PCNSL) rarely originates in the hypothalamus. Hypothalamic PCNSL can present with various symptoms specific to dysfunction of the hypothalamus, including consciousness disturbance, cognitive impairment, hypopituitarism, and diabetes insipidus (DI). However, it remains unclear whether syndrome of inappropriate secretion of antidiuretic hormone (SIADH) can present as an initial sign of hypothalamic PCNSL. METHODS: Ninety-nine patients with PCNSL were diagnosed between January 2006 and December 2020 at our institutes. The initial symptoms and signs, hypothalamic-pituitary functions, serum sodium (Na) value, Karnofsky Performance Status (KPS) score on admission, and duration from onset to diagnosis were retrospectively investigated from the medical charts. RESULTS: Eight and 91 patients had hypothalamic PCNSL (hypothalamic group) and PCNSL located in other regions (control group), respectively. Patients' pathological diagnoses were diffuse large B-cell lymphoma (97 patients) and intravascular lymphoma (two patients). Six patients presented with hyponatremia derived from SIADH or suspected SIADH, and one presented with DI. Statistically significant differences between the hypothalamic and control groups were detected only in the preoperative serum Na values and KPS scores. CONCLUSION: SIADH can be an initial presentation of hypothalamic PCNSL. Early detection of hypothalamic PCNSL from SIADH may lead to proper management and improved prognosis.

A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity.

OBJECTIVES: A highly invasive pathological diagnosis is necessary to differentiate central diabetes insipidus (CDI) with a thickened pituitary stalk. Lymphocytic infundibulo-hypophysitis (LIH) due to autoimmune involvement of the pituitary stalk is a differentiating disease, and anti-rabphilin-3A antibody (Rab3A-Ab) positivity was recently reported. CASE PRESENTATION: A 7-year-old boy was diagnosed with CDI after having polyuria for two months. He showed growth hormone deficiency with reduced growth rate. Brain magnetic resonance imaging (MRI) revealed a thickened pituitary stalk. The placental alkaline phosphatase level of the cerebrospinal fluid, tumor marker for germ cell tumors, was below the level of sensitivity. No skin or bone findings suggestive of Langerhans cell histiocytosis were detected. Eight months after CDI onset, Rab3A-Ab was positive, and MRI showed shrinking of the thickened pituitary stalk, leading to the diagnosis with LIH. CONCLUSIONS: Rab3A-Ab is a useful adjunctive diagnostic tool for childhood-onset LIH.

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.

BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. CASE PRESENTATION: We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene -the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150-45,706,528)*1 on the other. CONCLUSIONS: This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.

ENDOCRINOLOGY IN THE TIME OF COVID-19-2021 UPDATES: The management of diabetes insipidus and hyponatraemia.

COVID-19 has changed the nature of medical consultations, emphasizing virtual patient counselling, with relevance for patients with diabetes insipidus (DI) or hyponatraemia. The main complication of desmopressin treatment in DI is dilutional hyponatraemia. Since plasma sodium monitoring is not always possible in times of COVID-19, we recommend to delay the desmopressin dose once a week until aquaresis occurs allowing excess retained water to be excreted. Patients should measure their body weight daily. Patients with DI admitted to the hospital with COVID-19 have a high risk for mortality due to volume depletion. Specialists must supervise fluid replacement and dosing of desmopressin. Patients after pituitary surgery should drink to thirst and measure their body weight daily to early recognize the development of postoperative SIAD. They should know hyponatraemia symptoms. Hyponatraemia in COVID-19 is common with a prevalence of 20-30% and is mostly due to SIAD or hypovolaemia. It mirrors disease severity and is an early predictor of mortality. Hypernatraemia may also develop in COVID-19 patients, with a prevalence of 3-5%, especially in ICU, and derives from different multifactorial reasons, for example, due to insensible water losses from pyrexia, increased respiration rate and use of diuretics. Hypernatraemic dehydration may contribute to the high risk of acute kidney injury in COVID-19. IV fluid replacement should be administered with caution in severe cases of COVID-19 because of the risk of pulmonary oedema.

Diagnóstico diferencial de adenoma folicular y carcinoma papilar de tiroides mediante variables cariométricas. Matanzas 2013-2016 / Differential diagnosis of thyroidal follicular adenoma and papillary carcinoma by means of karyometric variables. Matanzas 2013-2016

RESUMEN Introducción: los carcinomas diferenciados de tiroides se originan en el epitelio folicular. De ellos el carcinoma papilar muestra una mayor incidencia. Una variante del mismo es la folicular, que en ocasiones muestra un patrón arquitectural que imita a un adenoma folicular. Objetivo: contribuir al diagnóstico diferencial entre el carcinoma papilar variante folicular y el adenoma folicular de tiroides, utilizando variables cariométricas de las células foliculares. Materiales y métodos: se aplicaron técnicas morfométricas a muestras de biopsias de tiroides con carcinoma papilar variante folicular y adenoma folicular, así como a muestras sin patología, en el período comprendido de enero de 2013 a diciembre de 2016, obtenidas en el Hospital Universitario Clínico Quirúrgico Comandante Faustino Pérez Hernández, de Matanzas. Las técnicas aplicadas se basaron en las variables cuantitativas: área, perímetro y factor de forma nuclear de las células foliculares. Los resultados se expresaron en porcentajes; la media aritmética como medida de tendencia central; desviación típica, incluyéndose el cálculo de los valores máximo, mínimo y recorrido para cada variable comprendida en el estudio, reflejados en tablas y gráficos realizados a través del software Microsoft Office Excel. Resultados: se obtuvieron valores elevados de área y perímetro nuclear de las células foliculares del carcinoma papilar variante folicular con relación al adenoma folicular, mientras que el factor de forma no arrojó resultados significativos para la diferenciación de dichas enfermedades tiroideas. Conclusiones: la aplicación de técnicas morfométricas a variables cariométricas en el tiroides, para el diagnóstico diferencial entre el carcinoma papilar variante folicular y el adenoma folicular, ofrece resultados aplicables en estudios histopatológicos (AU).

ABSTRACT Introduction: differentiated thyroid carcinomas are originated in the follicular epithelium. Of them, the papillary carcinoma shows higher incidence. Follicular carcinoma, one of its variants, occasionally shows an architectural pattern imitating a follicular adenoma. Objective: to contribute to the differential diagnosis between the papillary carcinoma, follicular variant, and thyroid follicular adenoma, using karyometric variables of follicular cells. Materials and methods: morphometric techniques were applied to samples of biopsies of thyroids with papillary carcinoma, follicular variant, and follicular adenoma, and also to samples without any pathology, in the period from January 2013 to December 2016, gathered in the University Hospital Comandante Faustino Perez, of Matanzas. The applied techniques were based on quantitative variables: area, perimeter and nuclear form factor. Results were expressed in percentages; the arithmetic median as measure of central tendency; typical deviation, including the calculation of maximal, minimal values and the course for each variable included in the study, were drawn in tables and graphics using Microsoft Office Excel software. Results: highs values of area and nuclear perimeter of the follicular cells of the papillary carcinoma, follicular variant, were obtained, while the shape factor did not show significant results for those thyroidal diseases differentiation. Conclusions: the application of morphometric techniques to karyometric variables in the thyroids, for the differential diagnosis between the papillary carcinoma, follicular variant, in follicular carcinoma, offers results that can be applied in histopathological studies (AU).

Histopathological findings in the landscape of IgG4-related pathology in patients with pituitary dysfunction: Review of six cases.

IgG4-related hypophysitis (IgG4-RH) is increasingly being reported as an isolated entity or, less frequently, as a manifestation of a multiorgan IgG4-related disease (IgG4-RD), in which typical histopathology is a cornerstone for the diagnosis. We aimed to describe the histopathological changes in the surgical specimens from patients with clinical signs of pituitary disease that fulfilled the current diagnostic criteria for IgG4-RH. Histopathological features were correlated with clinical and radiological findings. Of 19 patients with pituitary dysfunction and inflammatory changes in the surgical pituitary specimen operated on during 2011-2019, we identified five patients with typical IgG4-related pathology (lymphoplasmacytic infiltration with more than 10 IgG4-positive plasma cells per one high power microscopic field, representing at least 40% of all plasma cells and at least focal storiform fibrosis). One patient with diabetes insipidus and pachymeningitis with IgG4-related changes in a biopsy from the dura was also included. Additional histopathological changes that typically are not part of the IgG4-RH were observed: Rathke's cleft cyst in four and granulomatous changes in two patients. One patient had an elevated serum IgG4 level and systemic manifestations that could be associated with the systemic IgG4-RD. Our findings indicate that pure IgG4-RH is uncommon. All patients with pituitary dysfunction, beyond typical IgG4-related pathology, had other pathological findings that could trigger the secondary IgG4-response. Both primary pathology and secondary IgG4-related features should be reported in patients with pituitary dysfunction because their co-occurrence may cause atypical clinical and imaging features, and unexpected response to surgical and pharmacological treatment. The current criteria for the diagnosis of IgG4-RH can lead to overdiagnosis of IgG4-RH if additional pathological changes are not taken into consideration. The classification criteria of IgG4-RD proposed by the American College of Rheumatology/European League Against Rheumatism could help classify patients more properly as IgG4-RH if applied to the pituitary gland.

Is it possible to predict the development of diabetes insipidus after pituitary surgery? Study of 241 endoscopic transsphenoidal pituitary surgeries.

PURPOSE: To identify presurgical and surgical factors associated with the development of diabetes insipidus (DI) after pituitary adenoma (PA) resection through an endoscopic endonasal transsphenoidal approach. METHODS: Data from 231 patients with functioning and non-functioning PAs who underwent an endoscopic endonasal transsphenoidal approach in the last ten years. RESULTS: 231 patients with 241 pituitary surgeries were included. Eighty-five percent harbored macroadenomas and 38.1% of them were invasive. After pituitary surgery, 12.5% (n = 30) developed transient DI and 5.0% (n = 12) permanent DI. The global risk of DI was higher in patients younger than 65 years (OR = 2.94, p = 0.029), with total tumoral resection (OR = 2.86, p = 0.007) and with diaphragm opening during pituitary resection (OR = 3.63, p = 0.0003). Once postoperative DI developed, the risk of permanent DI increased in those patients with larger PA (OR = 1.07 for each mm of craniocaudal diameter, p = 0.020), especially in those greater than 30 mm (OR = 8.33, p = 0.004). Moreover, diaphragm opening during pituitary resection (OR = 28.3, p = 0.018) predicted long-term DI independently of pituitary tumor size. The risk of permanent DI increased as PA craniocaudal diameter increased (r = 0.20, p = 0.002). CONCLUSION: In patients with PAs younger than 65 years, in whom diaphragm has been opened during pituitary surgery and/or with a total tumor resection, special hydric balance monitoring should be maintained in the postoperative period due to the increased risk of developing DI. The risk of permanent DI increases as PA craniocaudal diameter increased.

Single-institution case series of pituitary biopsy for suspected germinoma in the pediatric population: diagnostic utility, operative risks, and biopsy approaches.

Little has been reported on the safety and efficacy of pituitary biopsy in the pediatric population for suspected germinoma. An updated review is needed. Patients who underwent biopsy (endoscopic endonasal vs. open craniotomy) for isolated pituitary stalk thickening were identified. Age, pre- and post-operative endocrine status, surgical approach, length of surgery, estimated blood loss, surgical morbidity, length of ICU stay, total length of stay, and pathology reports were reviewed. Nine patients met inclusion criteria. Germinoma diagnosis was rendered in 7 of 9 patients; 1 patient required two biopsy attempts. Two-patients had histology consistent with inflammation and a subsequently self-limited disease course. Average operative time, blood loss, ICU stay and overall length of stay was just over 2 h, 28 mL, 1.6 days and 3.7 days respectively. There were no intraoperative complications and all patients were discharged home. One patient developed new diabetes insipidus post-operatively. Patients who underwent endoscopic biopsy had decreased operative times and shorter hospitalizations. Biopsy for isolated pituitary stalk thickening for suspected germinoma is generally safe with high diagnostic utility. Importantly, 22% of presumed germinomas on imaging yielded alternative diagnoses on biopsy, adding support for pathology-proven data to guide treatment in relevant cases.

Sorting Nexin 27 Regulates the Lysosomal Degradation of Aquaporin-2 Protein in the Kidney Collecting Duct.

Sorting nexin 27 (SNX27), a PDZ (Postsynaptic density-95/Discs large/Zonula occludens 1) domain-containing protein, cooperates with a retromer complex, which regulates intracellular trafficking and the abundance of membrane proteins. Since the carboxyl terminus of aquaporin-2 (AQP2c) has a class I PDZ-interacting motif (X-T/S-X-Φ), the role of SNX27 in the regulation of AQP2 was studied. Co-immunoprecipitation assay of the rat kidney demonstrated an interaction of SNX27 with AQP2. Glutathione S-transferase (GST) pull-down assays revealed an interaction of the PDZ domain of SNX27 with AQP2c. Immunocytochemistry of HeLa cells co-transfected with FLAG-SNX27 and hemagglutinin (HA)-AQP2 also revealed co-localization throughout the cytoplasm. When the PDZ domain was deleted, punctate HA-AQP2 labeling was localized in the perinuclear region. The labeling was intensively overlaid by Lysotracker staining but not by GM130 labeling, a cis-Golgi marker. In rat kidneys and primary cultured inner medullary collecting duct cells, the subcellular redistribution of SNX27 was similar to AQP2 under 1-deamino-8-D-arginine vasopressin (dDAVP) stimulation/withdrawal. Cell surface biotinylation assay showed that dDAVP-induced AQP2 translocation to the apical plasma membrane was unaffected after SNX27 knockdown in mpkCCD cells. In contrast, the dDAVP-induced AQP2 protein abundance was significantly attenuated without changes in AQP2 mRNA expression. Moreover, the AQP2 protein abundance was markedly declined during the dDAVP withdrawal period after stimulation under SNX27 knockdown, which was inhibited by lysosome inhibitors. Autophagy was induced after SNX27 knockdown in mpkCCD cells. Lithium-induced nephrogenic diabetes insipidus in rats revealed a significant downregulation of SNX27 in the kidney inner medulla. Taken together, the PDZ domain-containing SNX27 interacts with AQP2 and depletion of SNX27 contributes to the autophagy-lysosomal degradation of AQP2.

Trametinib Toxicities in Patients With Low-grade Gliomas and Diabetes Insipidus: Related Findings?

Low-grade gliomas (LGG) represent the most common form of primary central nervous system tumor arising in childhood. There is growing evidence to support the role of the mitogen-activated protein kinase pathway in driving tumor growth and MEK inhibitors are being investigated in clinical trials for refractory and unresectable LGGs. As MEK inhibitors progress through clinical trials, drug toxicities have been identified. We report on 2 pediatric patients with LGG and known diabetes insipidus who developed severe hyponatraemia associated with significant decreases in desmopressin doses after starting trametinib. We review potential mechanisms for this sodium imbalance by examining the interaction between MEK inhibition and aquaporin channel physiology. We recommend close monitoring of serum sodium levels and clinical status in patients with diabetes insipidus who have optic-hypothalamic gliomas and are started on treatment with MEK inhibitors.

Diabetes insipidus and panhypopituitarism as a first presentation of silent adenocarcinoma of lung: a case report and literature review.

BACKGROUND: Pituitary metastasis is a rare condition with a poor prognosis. Very few patients with pituitary metastasis are symptomatic. It is often associated with presence of co-existing metastases to other organs. Isolated pituitary metastasis as the first presentation of primary malignancy is uncommon. CASE PRESENTATION: A 72-year-old woman presented with a 2-month history of polyuria, increasing thirst and unexplained weight loss. Esophagogastroduodenoscopy (EGD) was scheduled as part of the investigation. She was kept nil per os for 10 h prior to EGD, after which she developed alteration of consciousness. Further investigation revealed hypernatremia with sodium level of 161 mmol/L and low urine osmolality of 62 mOsm/kg. Her urine output was 300 mL per hour. Diabetes insipidus (DI) was diagnosed based on evidence of polyuria, hypernatremia, and low urine osmolality. Her urine output decreased and urine osmolality increased to 570 mOsm/kg in response to subcutaneous desmopressin acetate, confirming central DI. Pituitary magnetic resonance imaging showed a heterogeneous gadolinium enhancing lesion at the sellar and suprasellar regions, measuring 2.4 × 2.6 × 3.9 cm compressing both the hypothalamus bilaterally and the inferior aspect of optic chiasm as well as displacing the residual pituitary gland anteriorly. The posterior pituitary bright spot was absent. These MRI findings suggested pituitary macroadenoma. There were also multiple small gadolinium-enhancing lesions up to 0.7 cm in size with adjacent vasogenic brain edema at the subcortical and subpial regions of the left frontal and parietal areas, raising the concern of brain metastases. Pituitary hormonal evaluation was consistent with panhypopituitarism. Histopathological and immunohistochemical studies of the pituitary tissue revealed an adenocarcinoma, originating from the lung. Computed tomography of the chest and abdomen was subsequently performed, showing a 2.2-cm soft tissue mass at the proximal part of right bronchus. There was no evidence of distant metastases elsewhere. The final diagnosis was adenocarcinoma of the lung with pituitary metastasis manifesting as panhypopituitarism and central DI. Palliative care along with hormonal replacement therapy was offered to the patient. She died 4 months after diagnosis. CONCLUSION: Diagnosis of pituitary metastasis is challenging, especially in patients with previously undiagnosed primary cancer. It should be considered in the elderly patients presenting with new-onset central DI with or without anterior pituitary dysfunction.

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.

CONTEXT: The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations have been reported to cause bilateral microphthalmia or anophthalmia without consistent associated features. Congenital hypopituitarism can be associated with various eye or craniofacial anomalies; however, the co-occurrence of congenital hypopituitarism, anophthalmia, cleft palate, and diabetes insipidus has been very rare. RESULTS: We report the case of a child with anophthalmia, congenital hypopituitarism, diabetes insipidus, and bilateral cleft lip and palate who had a homozygous frameshift truncating mutation c.266delC (p.Pro89Argfs*114) in exon 1 of the RAX gene. Rax knockout mice show loss of ventral forebrain structures, pituitary, and basosphenoid bone and palate and a misplaced anterior pituitary gland along the roof of the oral cavity. CONCLUSIONS: Our patient's phenotype was more severe than that reported in other patients. Although most of the previously reported patients with RAX mutations showed either a missense or some less severe mutation in at least one of their RAX alleles, our patient was homozygous for truncating mutations that would yield a severe, null protein phenotype. The severity of the genetic defect, the precise match between the knockout mouse and the patient's endocrine phenotypes, and the prominent roles of RAX in eye and pituitary development and diencephalic patterning suggest that the RAX null mutations could fully account for the observed phenotype.

Posterior pituitary dysfunction following traumatic brain injury: review.

Neurohypophysial dysfunction is common in the first days following traumatic brain injury (TBI), manifesting as dysnatremia in approximately 1 in 4 patients. Both hyponatremia and hypernatremia can impair recovery from TBI and in the case of hypernatremia, there is a significant association with excess mortality. Hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion (SIAD) is the commonest electrolyte disturbance following TBI. Acute adrenocorticotropic hormone (ACTH)/cortisol deficiency occurs in 10-15% of TBI patients and can present with a biochemical picture identical to SIAD. For this reason, exclusion of glucocorticoid deficiency is of particular importance in post-TBI SIAD. Cerebral salt wasting is a rare cause of hyponatremia following TBI. Hyponatremia predisposes to seizures, reduced consciousness, and prolonged hospital stay. Diabetes insipidus (DI) occurs in 20% of cases following TBI; where diminished consciousness is present, appropriate fluid replacement of renal water losses is occasionally inadequate, leading to hypernatremia. Hypernatremia is strongly predictive of mortality following TBI. Most cases of DI are transient, but persistent DI is also predictive of mortality, irrespective of plasma sodium concentration. Persistent DI may herald rising intracranial pressure due to coning. True adipsic DI is rare following TBI, but patients are vulnerable to severe hypernatremic dehydration, exacerbation of neurologic deficits and hypothalamic complications, therefore clinicians should be aware of this possible variant of DI.

Diabetes mellitus vs diabetes insípida y un factor común: la poliuria. Presentación de un caso / Diabetes mellitus versus diabetes insipidus and a common factor: polyuria. Case presentation

La diabetes mellitus es una enfermedad crónica no trasmisible muy frecuente en la ciudad de Matanzas, se presenta en cualquier grupo etáreo, siendo tipo I o tipo II. En la diabetes tipo I, el cuerpo no produce insulina. En la diabetes tipo II, la más común, el cuerpo no produce o no usa la insulina adecuadamente. Sin suficiente insulina, la glucosa permanece en la sangre, provocando múltiples complicaciones tanto agudas como crónicas. La diabetes insípida es un trastorno poco común del metabolismo del agua. Esto quiere decir que el balance entre la cantidad de agua o líquido que usted toma no corresponde con el volumen de excreción urinaria. Es causada por una falta de respuesta o una respuesta deficiente a la hormona antidiurética vasopresina. Esta hormona controla el balance hídrico mediante la concentración de orina. Los pacientes con diabetes insípida orinan mucho, por lo cual necesitan beber bastantes líquidos para reemplazar los que pierden. Se presenta un paciente de 45 años con antecedentes de salud que debutó con una diabetes insípida y un año más tarde con una diabetes mellitus tipo II concomitando ambas, corroborándose por los complementarios correspondientes y mejorando con tratamiento (AU).

Diabetes mellitus is a non-transmissible chronic disease, very frequent in the city of Matanzas, which is present in any age group, and is classified as type I and type II. In the type I diabetes, the body does not produce insulin. In the type II diabetes, the most common one, the body does not produce or does not use it effectively. Without enough insulin, glucose remains in the blood, causing several complications, both acute and chronic. The diabetes insipidus is a few common disorder of the water metabolism. That means that the balance between the quantity of water or any other fluid someone drinks does not coincide with the volume of the urinary excretion. It is due to a lack of answer or a deficient answer to the anti-diuretic hormone vasopressin. This hormone controls the water balance through the urine concentration. The patients with diabetes insipidus urinate a lot, so they need to drink many liquids to replace those they lose. It is presented the case of a patient aged 45 years, with health antecedents, that debuted with diabetes insipidus and a year later with a concomitant type II diabetes mellitus. The complementary tests confirmed that and the patient got better with the treatment (AU).

Diabetes mellitus vs diabetes insípida y un factor común: la poliuria. Presentación de un caso / Diabetes mellitus versus diabetes insipidus and a common factor: polyuria. Case presentation

La diabetes mellitus es una enfermedad crónica no trasmisible muy frecuente en la ciudad de Matanzas, se presenta en cualquier grupo etáreo, siendo tipo I o tipo II. En la diabetes tipo I, el cuerpo no produce insulina. En la diabetes tipo II, la más común, el cuerpo no produce o no usa la insulina adecuadamente. Sin suficiente insulina, la glucosa permanece en la sangre, provocando múltiples complicaciones tanto agudas como crónicas. La diabetes insípida es un trastorno poco común del metabolismo del agua. Esto quiere decir que el balance entre la cantidad de agua o líquido que usted toma no corresponde con el volumen de excreción urinaria. Es causada por una falta de respuesta o una respuesta deficiente a la hormona antidiurética vasopresina. Esta hormona controla el balance hídrico mediante la concentración de orina. Los pacientes con diabetes insípida orinan mucho, por lo cual necesitan beber bastantes líquidos para reemplazar los que pierden. Se presenta un paciente de 45 años con antecedentes de salud que debutó con una diabetes insípida y un año más tarde con una diabetes mellitus tipo II concomitando ambas, corroborándose por los complementarios correspondientes y mejorando con tratamiento (AU).

Diabetes mellitus is a non-transmissible chronic disease, very frequent in the city of Matanzas, which is present in any age group, and is classified as type I and type II. In the type I diabetes, the body does not produce insulin. In the type II diabetes, the most common one, the body does not produce or does not use it effectively. Without enough insulin, glucose remains in the blood, causing several complications, both acute and chronic. The diabetes insipidus is a few common disorder of the water metabolism. That means that the balance between the quantity of water or any other fluid someone drinks does not coincide with the volume of the urinary excretion. It is due to a lack of answer or a deficient answer to the anti-diuretic hormone vasopressin. This hormone controls the water balance through the urine concentration. The patients with diabetes insipidus urinate a lot, so they need to drink many liquids to replace those they lose. It is presented the case of a patient aged 45 years, with health antecedents, that debuted with diabetes insipidus and a year later with a concomitant type II diabetes mellitus. The complementary tests confirmed that and the patient got better with the treatment (AU).

Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus.

Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). This boy is one of the youngest patients ever to present with XD combined with DI.

Pituitary dysfunction in granulomatosis with polyangiitis.

PURPOSE: Granulomatosis with polyangiitis (GPA) is a multisystem disease, characterized by necrotizing small-vessel vasculitis, which mainly affects the respiratory tract and the kidneys. Pituitary involvement in GPA is rare, present in about 1% of all cases of GPA. To date, only case reports or small case series have been published. Herein we report clinical features, imaging findings, treatment and outcomes in three patients with GPA-related pituitary dysfunction (PD). METHODS: A retrospective analysis of three cases of GPA-related PD was conducted, followed by systematic review of the English medical literature using PubMed. RESULTS: The three cases include three women aged between 32 and 37 years. PD was the presenting feature in one and two developed PD in the course of the disease. All patients had a pituitary lesion on MRI. Conventional treatment with high doses of glucocorticoids and cyclophosphamide led to resolution or improvement of the MRI abnormalities, whereas it was not effective in restoring PD. A systematic review identified 51 additional patients, showing that GPA can lead to partial or global PD, either at onset or, during the course of the disease. Secondary hypogonadism is the predominant manifestation, followed by diabetes insipidus (DI). Sellar mass with central cystic lesion is the most frequent radiological finding. CONCLUSION: GPA should be carefully considered in patients with a sellar mass and unusual clinical presentation with DI and systemic disease. Although conventional induction-remission treatment improves systemic symptoms and radiological pituitary abnormalities, hormonal deficiencies persist in most of the patients. Therefore, follow-up should include both imaging and pituitary function assessment.

Jean Camus and Gustave Roussy: pioneering French researchers on the endocrine functions of the hypothalamus.

At the beginning of the twentieth century, the hypothalamus was known merely as an anatomical region of the brain lying beneath the thalamus. An increasing number of clinicopathological reports had shown the association of diabetes insipidus and adiposogenital dystrophy (Babinski-Fröhlich's syndrome), with pituitary tumors involving the infundibulum and tuber cinereum, two structures of the basal hypothalamus. The French physicians Jean Camus (1872-1924) and Gustave Roussy (1874-1948) were the first authors to undertake systematic, controlled observations of the effects of localized injuries to the basal hypothalamus in dogs and cats by pricking the infundibulo-tuberal region (ITR) with a heated needle. Their series of surgical procedures, performed between 1913 and 1922, allowed them to claim that both permanent polyuria and adiposogenital dystrophy were symptoms caused by damage to the ITR. Their results challenged the dominant doctrine of hypopituitarism as cause of diabetes insipidus and adiposogenital dystrophy that derived from the experiments performed by Paulescu and Cushing a decade earlier. With their pioneering research, Camus and Roussy influenced the experimental work on the hypothalamus performed by Percival Bailey and Frederic Bremer at Cushing's laboratory, confirming the hypothalamic origin of these symptoms in 1921. More importantly, they provided the foundations for the physiological paradigm of Neuroendocrinology, the hypothalamus' control over the endocrine secretions of the pituitary gland, as well as over water balance and fat metabolism. This article aims to credit Camus and Roussy for their groundbreaking, decisive contributions to postulate the hypothalamus being the brain region in control of endocrine homeostasis and energy metabolism.

Diabetes Insipidus.

Disruption of water and electrolyte balance is frequently encountered in clinical medicine. Regulating water metabolism is critically important. Diabetes insipidus (DI) presented with excessive water loss from the kidney is a major disorder of water metabolism. To understand the molecular and cellular mechanisms and pathophysiology of DI and rationales of clinical management of DI is important for both research and clinical practice. This chapter will first review various forms of DI focusing on central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI ) . This is followed by a discussion of regulatory mechanisms underlying CDI and NDI , with a focus on the regulatory axis of vasopressin, vasopressin receptor 2 (V2R ) and the water channel molecule, aquaporin 2 (AQP2 ). The clinical manifestation, diagnosis and management of various forms of DI will also be discussed with highlights of some of the latest therapeutic strategies that are developed from in vitro experiments and animal studies.

Bilateral Ossified Chronic Subdural Hematoma Presenting as Diabetes Insipidus-Case Report and Literature Review.

Calcified chronic subdural hematomas are an occurrence rarely seen in neurosurgical clinical practice. And when they occur bilaterally, the radiologic image they present is fascinating, as is the clinical presentation, but their management may be challenging. They have been reported to present with a multitude of neurologic deficits but never with diabetes insipidus, which is described here. Due to the rarity of this pathology, the management protocol is not well defined, though there have been quite a few papers on this condition. This review article gathers information published over the years on this rare entity to suggest a treatment protocol.