Paula Condé Lamparelli Elias

Background: Primary aldosteronism (PA) is frequently underdiagnosed, resulting in prolonged exposure to aldosterone excess. In Brazilian cohorts, delayed diagnosis has been associated with high prevalence of hypokalemia, suggesting severe disease at presentation. We evaluated PA severity and its association with PA subtype using the Primary Aldosteronism Severity Classification (PASC). Methods: PA patients were retrospectively evaluated over a 25-year period at a tertiary university hospital. Severity was classified using PASC, based on blood pressure, serum potassium, and plasma aldosterone. Kobayashi score was used to estimates the probability of bilateral PA. Outcomes were assessed by Primary Aldosteronism Surgical Outcome (PASO) and Primary Aldosteronism Medical Outcome (PAMO) criteria. Results: Among 120 patients (56% female), 52 underwent unilateral adrenalectomy and 68 received medical therapy. Most diagnoses (84%) occurred in the past decade. Median ages were 32 years at hypertension onset and 53 years at PA diagnosis. Most patients presented hypokalemia (75%), more frequent in lateralized than bilateral PA (85% vs 66%; P = .03). Overall, 98% of patients had moderate or severe PASC, more common in lateralized than bilateral PA (61.5% vs 36.8%; P = .01). Severity correlated with aldosterone levels, hypokalemia, and antihypertensive medications (all P < .0001), but not with diagnostic delay. Higher Kobayashi score was associated with bilateral PA. Adrenalectomy resulted in high rates of biochemical success, while medically treated patients showed predominantly partial clinical improvement. Conclusion: Brazilian patients with PA presented substantial diagnostic delay and predominantly moderate to severe disease. PASC and the Kobayashi score may complement subtype assessment when adrenal venous sampling is unavailable.

Classic adipsic vasopressin deficiency features hypotonic polyuria and absent thirst despite hypernatremia. We report a 21-year-old patient with prior resected pilocytic astrocytoma who presented dehydration and hypernatremia of 158 mEq/L (158 mmol/L) (reference range, 135-145 mEq/L [SI: 135-145 mmol/L]). He denied thirst and had no polyuria or polydipsia. Plasma and urinary osmolalities were 317 mOsm/Kg (317 mmol/Kg) (reference range, 282-295 mOsm/Kg [282-295 mmol/Kg]) and 878 mOsm/Kg (878 mmol/Kg) (reference range, 200-1200 mOsm/Kg [200-1200 mmol/Kg]), respectively. After prescribed oral water intake, serum sodium normalized and urinary volume remained normal. To assess osmoregulation, plasma copeptin and thirst visual scale were assessed during 3% saline infusion. Despite increases in serum sodium, the patient reported no change in thirst, confirming adipsia. Copeptin value was 3.2 pmol/L at the end of the saline infusion (reference range, 3.7-43.3 pmol/L) and 4.1 pmol/L during hypovolemic hypernatremia, both low-normal values considering hypernatremia, suggesting impaired osmolality-driven vasopressin secretion. This case illustrates a partial defect in osmoregulatory vasopressin release with maintained renal response and highlights the diagnostic utility of osmotic-stimulated copeptin measurement for functional characterization of vasopressin dynamics in rare adipsic disorders.

Introduction: The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study focuses exclusively on cortisol measurements. Methods: We evaluated the diagnostic accuracy and safety profile of CST in pediatric patients submitted to insulin tolerance test (ITT) or glucagon‐stimulation test (GST) in a tertiary center for 15 years in this retrospective cohort study. According to cortisol (F; nmol/L), we classified patients as having CAI (Fbasal < 138 or Fpeak < 414), indeterminate (Fbasal = 138−358.7 or Fpeak = 414−496.6), and normal (Fbasal > 358.7 or Fpeak > 496.6). Cutoffs were selected based on the literature and on our University Hospital protocol. Plasma cortisol was measured using a consistent radioimmunoassay (RIA) following extraction, with duplicate analyses. The assay had a detection limit of 33.11 nmol/L, with intra‐ and inter‐assay coefficients of variation of 5% and 10.5%, respectively. We evaluated the sensitivity, specificity, likelihood ratios (LR), and clinicopathological variables associated with Fbasal and Fpeak. Results: Among 904 patients (60.1% males; median age 10.1 years [0.1−17.1]), CAI was confirmed in 79 (8.7%). Mild hypoglycemia (ITT), and nausea and vomiting (GST) occurred in 46% and 17.5%, respectively. No serious adverse events occurred. Fbasal classified 58% of patients as indeterminate. A Fbasal cutoff of 96.6 had a specificity of 99% and LR+ of 7.6, but low sensitivity (5.3%). In GST, a Fpeak of 303.5 had weak diagnostic accuracy (LR+ of 2.8) and low sensitivity (17%). Concomitant central hypothyroidism and a Fbasal < 154.5 were associated with lower Fpeak, and pituitary stalk interruption was associated with lower Fbasal and Fpeak. Conclusions: Fbasal did not present good diagnostic accuracy. However, Fbasal < 96.6 nmol/L predicted lower Fpeak. Therefore, many patients require CST to confirm or exclude CAI. ITT and GST are safe for young patients when performed in experienced centers in a controlled environment.

Objective: This study evaluated the QoL of Brazilian adult patients with childhood-onset growth hormone deficiency GHD (CO-GHD), comparing those who continued GH replacement therapy (GHRT) after transition to adulthood with those who discontinued treatment and with healthy subjects. Subjects and methods: In this cross-sectional study, quality of life (QoL) was assessed using the Quality of Life Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA) questionnaire in 61 Brazilian adults aged 18-50 years. The sample included 31 patients with CO-GHD confirmed during the transition period, who continued or discontinued GHRT, and 30 matched controls. Results: GHD patients had poorer QoL, as indicated by higher QoLAGHDA scores than controls (median 8 [IQR 5-14] vs 4 [IQR 2-8]; p < 0.01). Continued GHRT in adulthood did not impact QoL compared with discontinued GHRT (8 [IQR 6-16] vs. 9 [IQR 5-12], p = 0.33). Overall, women had lower QoL irrespective of GHD (9 [IQR 6-13] vs. 5 [IQR 2-8.5], p = 0.01, women and men, respectively). We found no association between QoL-AGHDA scores and education level (p = 0.51), short stature (p = 0.78), associated pituitary deficiencies (p = 0.34), or overweight/obesity (p = 0.16). Conclusion: GHD impairs quality of life in young adults; however, our cross-sectional cohort did not show significant improvements in quality of life associated with GH replacement therapy. A multidisciplinary approach combining individualized treatment and psychosocial interventions remains essential.

This large pediatric cohort study confirms the safety of the water deprivation test but reveals its limited diagnostic accuracy. Updated diagnostic criteria can improve performance and reduce unnecessary testing. A baseline urinary osmolality (uOsm) > 279 mOsm/kgH ₂ O excluded arginine vasopressin (AVP) disorders with 100% sensitivity and 74% specificity and an interrupt uOsm > 533 mOsm/kgH ₂ O excluded them with 100% sensitivity and specificity. A weight loss >5% was a safe threshold. Prospective, multicenter studies are needed to generalize these findings.

The recently published article entitled “Disrupted ACTH and cortisol response to osmotic and non-osmotic stress in patients with arginine vasopressin deficiency,” authored by Nikaj et al. evaluated the HPA axis response to osmotic and non-osmotic stimuli in patients with AVP deficiency (AVP-D) and with primary polydipsia (PP). Patients with AVP-D showed increased plasma ACTH and cortisol concentrations, in response to arginine stimulation, compared to patients with PP. The authors attributed altered ACTH and cortisol responses in AVP-D patients mainly to non-osmotic stress. However, PP patients may also show impaired osmolality and psychological comorbidities, which would be better assessed if there was a healthy control group in the study. We raised this aspect because data from our previous published study (Elias et al.), evaluating the interaction of plasma osmolality and plasma AVP, as well as plasma ACTH and cortisol responses to human CRH alone and combined with osmotic stimulus or isotonic volume loading in patients with AVP-D and healthy controls, showed a significant correlation between plasma osmolality and the ACTH response to hCRH across both healthy and AVP-D subjects during tests. Moreover, the enhanced ACTH and cortisol responses to hCRH with increasing pOsm were also observed in both healthy controls and patients with AVP-D. These findings suggest that the acute rise in plasma osmolality amplifies the ACTH and cortisol responses to hCRH, involving factors beyond magnocellular AVP. Importantly, Itagaki. et al. also demonstrated a positive correlation between plasma ACTH and plasma osmolality in AVP-D patients subjected to hypertonic saline infusion. In conclusion, while Nikaj. et al.'s study provides confirmation of the HPA axis activity in AVP-D patients, it seems unlikely that disruption of HPA axis regulation in these patients is due to impaired feedback regulation between AVP and CRH.

Measurement of serum prolactin levels is a common practice in clinical settings, particularly among women of reproductive age. In cases of hyperprolactinemia, identifying macroprolactinemia can help prevent unnecessary investigation and inappropriate treatments. This Position Statement, jointly prepared by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), addresses several aspects of macroprolactinemia relevant to clinical practice – including concepts, definitions, epidemiological aspects, measurement techniques, and the role of screening – and [...] ABSTRACT Measurement of serum prolactin levels is a common practice in clinical settings, particularly among women of reproductive age. In cases of hyperprolactinemia, identifying macroprolactinemia can help prevent unnecessary investigation and inappropriate treatments. This Position Statement, jointly prepared by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), addresses several aspects of macroprolactinemia relevant to clinical practice – including concepts, definitions, epidemiological aspects, measurement techniques, and the role of screening – and

Objetivo: Determinar el abordaje diagnóstico y terapéutico de la pancreatitis aguda durante el embarazo. Material y métodos: se realizó una revisión exhaustiva de artículos de revista y libros de texto especializados en embarazo y cirugía desde el año 2012 hasta el 2022. Se utilizaron bases de datos y motores de búsqueda como BVS, PubMed, Hinari, Medline, Scielo, Google Académico, UptoDate. La revisión incluyó artículos de revisión, estudios observacionales, reportes de caso, metaanálisis y guías de práctica clínica, en español e inglés. Los criterios de inclusión se centraron en estudios sobre mujeres embarazadas de 18-40 años con pancreatitis aguda. Resultados: los cambios fisiológicos durante el embarazo aumentan la predisposición a experimentar pancreatitis aguda. El enfoque terapéutico debe ser individualizado y multidisciplinario. Las estrategias de tratamiento pueden variar según la gravedad de la condición, la etapa del embarazo y las causas subyacentes. Conclusión: los avances recientes en la comprensión de la pancreatitis aguda en el embarazo han llevado a una reducción significativa de menos del 5% de la mortalidad materno-fetal. A pesar de esto, faltan guías clínicas específicas. Se necesita más investigación para desarrollar protocolos de tratamiento estandarizados que puedan optimizar los resultados tanto para la madre como para el feto.

SUMMARY Aldosterone-secreting adrenocortical carcinomas (ACCs) are rare and usually present as large tumors. The only potentially curative treatment for ACC is surgical resection. However, surgery may be unfeasible in some patients who have multiple comorbidities or decline the procedure. We describe herein the case of a 44-year-old man with aldosterone-secreting ACC who declined surgery because of religious convictions. As a Jehovah’s Witness, the patient was concerned about requiring blood transfusion during surgery. Treatment with mitotane was started but interrupted due [...] SUMMARY Aldosterone-secreting adrenocortical carcinomas (ACCs) are rare and usually present as large tumors. The only potentially curative treatment for ACC is surgical resection. However, surgery may be unfeasible in some patients who have multiple comorbidities or decline the procedure. We describe herein the case of a 44-year-old man with aldosterone-secreting ACC who declined surgery because of religious convictions. As a Jehovah’s Witness, the patient was concerned about requiring blood transfusion during surgery. Treatment with mitotane was started but interrupted due

Key points • Hyperprolactinemia (HPRL) is a cause of menstrual irregularity, galactorrhea, hypogonadism and infertility. Recognizing the cause of HPRL is essential to institute appropriate treatment. • Drug treatment with dopamine agonist (DA) is the first line of therapy for symptomatic HPRL due to prolactinoma or idiopathic HPRL. • Dopamine agonist treatment is effective in 80-90% of cases. • Infertility treatment in patients with HPRL is also carried out with DA, aiming to normalize prolactin (PRL) levels. • The risk of symptomatic growth of prolactinomas during pregnancy is related to the size of the tumor, length of previous treatment and higher PRL levels, and is less than 5% in microprolactinomas. • Hyperprolactinemia remission can occur after pregnancy and menopause, and in around 30% of cases following drug treatment. • The use of drugs such as antidepressants and antipsychotics is a frequent cause of HPRL, and has particularities in its management.