Screening and diagnosis of primary aldosteronism. Consensus document of all the Spanish Societies involved in the management of primary aldosteronism.

Primary aldosteronism (PA) is the most frequent cause of secondary hypertension (HT), and is associated with a higher cardiometabolic risk than essential HT. However, PA remains underdiagnosed, probably due to several difficulties clinicians usually find in performing its diagnosis and subtype classification. The aim of this consensus is to provide practical recommendations focused on the prevalence and the diagnosis of PA and the clinical implications of aldosterone excess, from a multidisciplinary perspective, in a nominal group consensus approach by experts from the Spanish Society of Endocrinology and Nutrition (SEEN), Spanish Society of Cardiology (SEC), Spanish Society of Nephrology (SEN), Spanish Society of Internal Medicine (SEMI), Spanish Radiology Society (SERAM), Spanish Society of Vascular and Interventional Radiology (SERVEI), Spanish Society of Laboratory Medicine (SEQC(ML)), Spanish Society of Anatomic-Pathology, Spanish Association of Surgeons (AEC).

Relevance of inferior petrosal sinus sampling in the diagnosis of Cushing's syndrome: a case report.

Objectives: Non-specific signs and symptoms of Cushing's syndrome (CS) can pose a diagnostic challenge. Case presentation: We report the case of a man referred to the service of endocrinology for suspected CS. Hypercortisolism was confirmed on CS screening tests, whereas diagnostic tests confirmed the presence of adrenocorticotropin (ACTH) -dependent CS. The corticotropin-releasing hormone stimulation (CRH) test was performed to determine whether CS had an endogenous or ectopic origin. Since the CRH and the magnetic resonance imaging (MRI) test were negative, IPSS was performed and suggested that CS was originated in the pituitary glands. Transsphenoidal pituitary resection was carried out. Histopathological analysis confirmed the cortitotrope origin of the tumor. Conclusions: The etiological study and differential diagnosis of CS are complex processes that involve a variety of biochemical and imaging tests. It is important that a sequence of biochemical screening and diagnostic tests is performed, along with studies for establishing the location of the lesion, to determine whether CS has an adrenal, pituitary or ectopic origin. Despite its good diagnostic performance, the results of biochemical tests may not be conclusive, especially in ACTH-dependent CS. In the case reported, the inconclusive results obtained in the CRH test rendered an invasive procedure (IPSS) necessary, which ultimately confirmed diagnosis.

False hyperthyroidism caused by interference in immunoassays.

Objectives: Immunoassays used to assess thyroid function are vulnerable to different types of interference that may affect clinical decision-making. Case presentation: We report the case of a 37-year-old woman who developed iatrogenic hypothyroidism after having received radioiode therapy who visited our hospital for her annual checkup. The patient was asymptomatic, without signs suggestive of thyroid disease. However, laboratory analysis proved otherwise: thyrotropin (TSH) 7.75 mU/L, thyroxine (FT4) >7.7 ng/dL. Conclusions: The inconsistency between her clinical symptoms and the biochemistry data raised the possibility of a methodological interference. A thorough evaluation of the main causes of interference was conducted in the laboratory to exclude the presence of interference in TSH and FT4. Finally, different interfering agents were identified, which affected free thyroid hormone and TSH determination.

How Valuable Is the RT-qPCR of Pituitary-Specific Transcription Factors for Identifying Pituitary Neuroendocrine Tumor Subtypes According to the New WHO 2017 Criteria?

The classification of pituitary neuroendocrine tumors (PitNETs) subtypes continues generating interest. In 2017, the World Health Organization (WHO) proposed considering the immunohistochemical (IHC) analysis of pituitary-specific transcription factors (TF) for their typification. The present study targeted the quantification of pituitary-specific TF (TPIT, PIT-1, SF-1, GATA2, ESR1) gene expression by RT-qPCR to overcome the shortcomings of IHC and to complement it. We analyzed 251 tumors from our collection of PitNETs and performed additional IHC studies in a subset of 56 samples to analyze the concordance between gene and protein expression of the TF. The molecular and IHC studies allowed us to significantly reduce the percentage of null cell tumors in our series, most of which were reclassified as gonadotroph tumors. The concordance between the molecular and the immunohistochemical studies was good for tumors coming from the corticotroph and Pit-1 lineages but worsened for the rest of the tumors. Indeed, the RT-qPCR helped to improve the typification of plurihormonal Pit-1 and unusual tumors. Overall, our results suggest that the RT-qPCR of pituitary-specific TF and hormone genes could help pathologists, endocrinologists, and neurosurgeons to improve the management of patients with pituitary tumors.

Interacción farmacocinética entre fenitoína y buflomedilo / Pharmacokinetic interaction between phenytoin and buflomedil

La prevalencia del tratamiento con fármacos antiepilépticos ha aumentado en pacientes ancianos. Esto unido a la especial fragilidad de estos pacientes, los sitúa entre los grupos farmacológicos que con mayor frecuencia se ven implicados en la aparición de interacciones en este grupo de población. Se describe el caso de una anciana que seguía tratamiento crónico con fenitoína y experimentó una reducción de su concentración plasmática al introducir buflomedilo como parte de su tratamiento. Los pacientes en los que se administren simultáneamente ambos fármacos serían candidatos a una estrecha monitorización con la finalidad de identificar precozmente esta interacción y evitar la posible toxicidad que pudiera derivarse de plantear un aumento de la dosis de fenitoína (AU)

There has been an increase in treatment with antiepileptic drugs in the elderly. This, together with the particular frailty of these patients, places them among the pharmacological groups that have a higher frequency of interactions in this population group. The case is presented of an elderly patient who followed long-term treatment with phenytoin and showed a reduction in her plasma phenytoin levels on introducing buflomedil as part of her treatment. Patients who are given both drugs simultaneously should be subjected to close monitoring, with the aim of identifying this interaction earlier and avoid the possibly toxicity that could arise from deciding to increase the phenytoin dose (AU)

Trimetilaminuria (síndrome de olor a pescado): descripción de un caso / No disponible

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