Introduction
Water and electrolyte disturbances are common after pituitary surgery and can generally be classified into transient hypotonic polyuria and transient or permanent diabetes insipidus ...(DI). The prevalence varies in the literature between 31-51% for transient hypotonic polyuria, 5.1-25.2% for transient DI, and 1-8.8% for permanent DI.
Objective
The aim of this study was to identify the prevalence of water and electrolyte disturbances with polyuria and the preoperative and postoperative predictive factors in patients undergoing surgery with an extended endoscopic endonasal approach.
Material and methods
This retrospective observational descriptive study included 203 patients with a diagnosis of pituitary adenoma who underwent their first transsphenoidal surgery
via
the extended endoscopic endonasal approach between April 2013 and February 2020. The diagnosis of water and electrolyte disturbances was based on the criterion for polyuria (>4 ml/kg/h). Postoperative polyuria was defined as those cases diagnosed during the immediate postsurgical period that resolved prior to discharge. Transient DI included all cases with a duration of less than 6 months but still present at hospital discharge, and permanent DI included cases lasting more than 6 months.
Results
The overall prevalence of water and electrolyte disorders was 30.5% (62), and the prevalence of postoperative polyuria was 23.6% (48). The median number of desmopressin doses administered to patients with postoperative polyuria was one dose (interquartile range IQR 1-2), and thus the median duration of treatment was 0 days. The median initiation of desmopressin was the second day after surgery (IQR 1-2). The overall prevalence of DI was 6.89%. Among the patients with transient DI, the duration was less than 3 months in three patients (1.47%), and between 3 and 6 months in two (0.98%). Nine patients had permanent DI (4.43%). (4.43%).
Conclusions
The prevalence of electrolyte disturbances in our study was high, although similar to that found in the literature. Most of the cases were transient hypotonic polyuria that resolved within one day. The prevalence of transient DI in our cohort was lower than that described in the literature, while permanent DI was similar.
Thyrotropin (TSH)-secreting pituitary tumors are rare and typically present with hyperthyroidism. Here we report the diagnosis, treatment, and surgical outcomes in a series of patients with ...TSH-secreting pituitary tumors in a tertiary referral center.
Descriptive retrospective study that included all patients with TSH-secreting pituitary tumors who underwent transsphenoidal surgery in the endocrinology and nutrition unit of the Virgen del Rocío University Hospital (Seville, Spain) between 2004 and 2016.
The mean age at diagnosis was 42.8 ± 17 years. The mean time from onset of symptoms to diagnosis was 13 ± 10 months. Four patients displayed symptoms indicating hyperthyroidism (1 suffered from tachycardia); 3 patients showed symptoms because of mass effect (visual impairment and headache) and 3 patients were diagnosed based on incidental findings after routine blood tests (high free thyroxine levels). Eight patients had macroadenomas, and 2 patients had microadenomas. Five patients underwent conventional pituitary surgery, and 5 patients underwent expanded endoscopic transsphenoidal surgery. Six patients achieved cure after surgery. The other patients received radiotherapy and/or treatment with somatostatin analogs. Analysis of somatostatin receptor (SSTR) expression by immunohistochemistry could be performed in 6 tumors.
Our results confirm the clinical and hormonal heterogeneity caused by TSH-secreting pituitary adenomas. Surgery is considered the first choice of treatment for these tumors. We observed surgical cure rates similar to those reported in recent published series. SSTR2 and SSTR3 are highly expressed in TSH-secreting pituitary adenomas. Our results suggest that somatostatin analog treatment may be also helpful in the treatment of TSH-secreting pituitary adenomas.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phenylketonuria (PKU), tyrosinemia II (TSII), organic acidaemias and ornithine transcarbamylase ...deficiency (OTCD), among others. They are increasingly more common in adults due to improved management. This has allowed more affected women to consider having children with good prospects. However, pregnancy may worsen metabolic control and/or increase maternal-fetal complications. The objective is to analyse the characteristics and outcomes of pregnancies of our patients with IEM.
Retrospective descriptive study. Pregnancies of women with IEM attended to at the adult IEM referral unit of the Hospital Universitario Virgen del Rocío were included. The qualitative variables were described as n(%) and the quantitative as P50 (P25–P75).
24 pregnancies were recorded: 12 newborns were healthy, 1 inherited their mother’s disease, 2 had maternal phenylketonuria syndrome, 1 was stillborn (gestational week 31 + 5), 5 were spontaneous abortions and 3 were voluntarily terminated. The gestations were divided into metabolically controlled and uncontrolled.
Pregnancy planning and multidisciplinary management through to postpartum is essential to ensure maternal and fetal health. The basis of treatment in PKU and TSII is a strict protein-limited diet. Events that increase protein catabolism in organic acidaemias and DOTC should be avoided. Further investigation of pregnancy outcomes in women with IEM is needed.
Los Errores Innatos del Metabolismo (EIM) intermediario son un conjunto de enfermedades hereditarias que incluye la fenilcetonuria (PKU), la tirosinemia II (TSII), las acidemias orgánicas y el déficit de ornitina transcarbamilasa (DOTC) entre otras. Son cada vez más frecuentes en adultos debido a las mejoras en su abordaje. Esto ha permitido que más mujeres afectas puedan plantearse deseos gestacionales con buenas perspectivas. Sin embargo, el embarazo puede empeorar el control metabólico y/o aumentar las complicaciones materno-fetales. El objetivo es analizar las características y resultados de los embarazos de nuestras pacientes con EIM.
Estudio descriptivo retrospectivo. Se incluyeron los embarazos de mujeres con EIM atendidas en la unidad de referencia de EIM de adultos del Hospital Universitario Virgen del Rocío. Las variables cualitativas se describieron como n(%); las cuantitativas como P50 (P25–P75).
Se registraron 24 embarazos: 12 recién nacidos fueron sanos, 1 heredó la enfermedad materna, 2 presentaron el síndrome de fenilcetonuria materna, 1 nació muerto (semana de gestación 31 + 5), 5 fueron abortos espontáneos y 3 se interrumpieron voluntariamente. Se dividieron las gestaciones en metabólicamente controladas y no controladas.
Es fundamental la planificación del embarazo y su manejo multidisciplinar hasta el postparto para garantizar la salud materno-fetal. La base del tratamiento en la PKU y TSII es la dieta estricta limitada en proteínas. Deben evitarse eventos que aumenten el catabolismo proteico en las acidemias orgánicas y el DOTC. Se necesita una mayor investigación de los resultados de embarazos de mujeres con EIM.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of ...disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 μmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks.
The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of ...multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23−38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7−31.1) kg/m2. Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control.
Nowadays, neither imaging nor pathology evaluation can accurately predict the aggressiveness or treatment resistance of pituitary tumors at diagnosis. However, histological examination can provide ...useful information that might alert clinicians about the nature of pituitary tumors. Here, we describe our experience with a silent corticothoph tumor with unusual pathology, aggressive local invasion and metastatic dissemination during follow-up. We present a 61-year-old man with third cranial nerve palsy at presentation due to invasive pituitary tumor. Subtotal surgical approach was performed with a diagnosis of silent corticotroph tumor but with unusual histological features (nuclear atypia, frequent multinucleation and mitotic figures, and Ki-67 labeling index up to 70%). After a rapid regrowth, a second surgical intervention achieved successful debulking. Temozolomide treatment followed by stereotactic fractionated radiotherapy associated with temozolomide successfully managed the primary tumor. However, sacral metastasis showed up 6 months after radiotherapy treatment. Due to aggressive distant behavior, a carboplatine-etoposide scheme was decided but the patient died of urinary sepsis 31 months after the first symptoms. Our case report shows how the presentation of a pituitary tumor with aggressive features should raise a suspicion of malignancy and the need of follow up by multidisciplinary team with experience in its management. Metastases may occur even if the primary tumor is well controlled.
Objective To describe the characteristics of the patients, as well as the treatment outcomes for the people treated in an Endocrinology and Nutrition unit with a diagnosis of SE-ED (> 7 years ...evolution despite evidence-based conventional treatment). Methods A descriptive observational study was conducted. Patients with a diagnosis of SE-ED (anorexia nervosa and bulimia nervosa) treated in the Endocrinology and Nutrition service of the Virgen del Rocío University Hospital between 2014 and 2019 were included. Results 67 patients were contacted and accepted to participate in the study. 95.5% were women. 67.2% were diagnosed with AN (anorexia nervosa) and 32.8% with BN (bulimia nervosa). Their median ages (years) at the onset of symptoms, beginning of follow-up and at present were 17, 32 and 42.5 respectively. Their median time of follow-up was 9 years. 73.1% had mental comorbitidy and AN patients had more osteoporosis (48.9% vs 22.7%, p = 0.04) and hypogonadotropic hypogonadism (31.1% vs. 4.5%, p = 0.014). Discussion The SE-ED patients in our sample began treatment years after the onset of symptoms, which may have led to their chronification. This emphasizes the importance of an early diagnosis in eating disorders. They presented with a high rate of physical complications and mental comorbidity. In the current sample, it was determined that patients with AN presented with higher rates of osteoporosis and hypogonadotropic hypogonadism than patients with BN. Level of evidence Level III: Evidence obtained from well-designed cohort or case-control analytic studies. Plain English summary At present, the criteria for severe and enduring eating disorders (SE-ED) are not sufficiently clearly defined. It has been calculated that approximately 20% of patients with anorexia nervosa (AN) and 10% of patients with bulimia nervosa (BN) suffer a chronification. We evaluated the characteristics of the patients, as well as the treatment outcomes for the people treated in an Endocrinology and Nutrition unit with a diagnosis of SE-ED (which was made based on an evolution greater than 7 years despite conventional treatment). The SE-ED patients in our sample began treatment years after the onset of symptoms, which may have led to their chronification. They presented with a high rate of physical complications and mental comorbidity. In the current sample, it was determined that patients with AN presented with higher rates of osteoporosis (health condition that weakens bones, making them fragile and more likely to break) and hypogonadotropic hypogonadism (illness in which testes or ovaries produce little or no sex hormones due to a problem in the pituitary gland) than patients with BN. Keywords: Eating disorders, Anorexia nervosa, Bulimia nervosa, Osteoporosis, Hypogonadotropic hypogonadism
La combinación de homocistinuria con acidemia metilmalónica es un error congénito del metabolismo de la vitamina B12 o cobalamina. Es una patología poco frecuente de herencia autosómica recesiva en ...la que existen diversas variantes en función de la patogenia del trastorno metabólico (cblC, cblD, cblF y cblJ). La más frecuente y más grave es la variante cblC, que suele manifestarse en los primeros meses de vida, aunque se han reportado casos al inicio de la edad adulta. Se hace fundamental un correcto diagnóstico y un abordaje terapéutico eficaz. Presentamos el caso clínico de una paciente de 18 años con antecedentes personales de epilepsia que acude por fracaso renal agudo con necesidad de terapia renal sustitutiva diagnosticándose de homocistinuria con acidemia metilmalónica variante cblC.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Craniopharyngioma (CP) is a rare tumor in the elderly whose clinical features and prognosis are not well known in this population.
To evaluate the clinicopathological features and therapeutic ...outcomes of CP diagnosed in the elderly.
This was a retrospective, multicenter, national study of CP patients diagnosed over the age of 65 years and surgically treated.
From a total of 384 adult CP patients, we selected 53 (13.8%) patients (27 women 50.9%, mean age 72.3 ± 5.1 years range 65-83 years) diagnosed after the age of 65 years. The most common clinical symptoms were visual field defects (71.2%) followed by headache (45.3%). The maximum tumor diameter was 2.9 ± 1.1 cm. In most patients, the tumor was suprasellar (96.2%) and mixed (solid-cystic) (58.5%). The surgical approach most commonly used was transcranial surgery (52.8%), and more than half of the patients (54.7%) underwent subtotal resection (STR). Adamantinomatous CP and papillary CP were present in 51 and 45.1%, respectively, with mixed forms in the remaining. Surgery was accompanied by an improvement in visual field defects and in headaches; however, pituitary hormonal hypofunction increased, mainly at the expense of an increase in the prevalence of diabetes insipidus (DI) (from 3.9 to 69.2%). Near-total resection (NTR) was associated with a higher prevalence of DI compared with subtotal resection (87.5 vs. 53.6%, p = 0.008). Patients were followed for 46.7 ± 40.8 months. The mortality rate was 39.6% with a median survival time of 88 (95% CI: 57-118) months. DI at last visit was associated with a lower survival.
CP diagnosed in the elderly shows a similar distribution by sex and histologic forms than that diagnosed at younger ages. At presentation, visual field alterations and headaches are the main clinical symptoms which improve substantially with surgery. However, surgery, mainly NTR, is accompanied by worsening of pituitary function, especially DI, which seems to be a predictor of mortality in this population.
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