Fabiola Costenaro

Evaluation of Cushing's disease remission after transsphenoidal surgery based on early serum cortisol dynamics

To evaluate the ability of post‐transsphenoidal pituitary surgery (TSS) serum cortisol levels (s‐cortisol) to predict surgical remission and recurrence of Cushings disease (CD).

Evaluation of the DDAVP test in the diagnosis of Cushing's Disease

To analyse the performance of the desmopressin (DDAVP) test in the diagnosis of Cushings disease (CD).

Hypertension-related factors in patients with active and inactive acromegaly

INTRODUCTION There are several complications of the cardiovascular system caused by acromegaly, especially hypertension. OBJECTIVES To evaluate hypertension characteristics in patients with cured/controlled acromegaly and with the active disease. PATIENTS AND METHODS Cross-sectional study of the follow-up of forty-four patients with acromegaly submitted to clinical evaluation, laboratory tests and cardiac ultrasound. Patients with cured and controlled disease were evaluated as one group, and individuals with active disease as second one. RESULTS Forty-seven percent of the patients had active acromegaly, and these patients were younger and had lower blood pressure levels than subjects with controlled/cured disease. Hypertension was detected in 50% of patients. Subjects with active disease showed a positive correlation between IGF-1 and systolic and diastolic blood pressure levels (r = 0.48, p = 0.03; and r = 0.42, p = 0.07, respectively), and a positive correlation between IGF-1 and urinary albumin excretion (UAE) rates. In patients with active disease, IGF-1 was a predictor of systolic blood pressure, although it was not independent of UAE rate. For individuals with cured/controlled disease, waist circumference and triglycerides were the predictors associated with systolic and diastolic blood pressure. CONCLUSIONS Blood pressure (BP) levels in patients with active acromegaly dependent of the GH excess. However, once thedisease becomes controlled and IGF-1 levels decrease, their blood pressure levels are depend on the other cardiovascular riskfactors [corrected].

Avaliação do eixo hipotálamo-hipófise adrenal no diagnóstico e na remissão da doença de Cushing

Cushings disease (CD) remains a medical challenge, with many questions still unanswered. Successful treatment of CD patients is closely related to correct approach to syndromic and etiological diagnosis, besides the experience and talent of the neurosurgeon. Pituitary transsphenoidal adenomectomy is the treatment of choice for DC. Assessment of remission after surgery and recurrence in the long term is an even greater challenge. In this regard, special attention should be paid to the role of postoperative serum cortisol as a marker of CD remission. Additionally, the postoperative use of exogenous glucocorticoids only in cases of adrenal insufficiency has been suggested by some authors as an essential practice to enable the use of serum cortisol in this scenario. In this article, we review the forms of evaluation of DC activity, and markers of remission and relapse of CD after transsphenoidal surgery.

Diabetes mellitus in a cohort of patients with acromegaly

OBJECTIVES To evaluate the presence of diabetes mellitus (DM) in a cohort of patients with acromegaly. METHODS This was a cross sectional study. RESULTS Fifty-eight acromegalic patients were assessed. Only 29% met the criteria for cure, and 27% had the disease controlled. Twenty-two had DM; HbA1c was equal to 7.34 ± 2.2%. Most of the diabetic patients (18 out of 22, 82%) did not meet criteria for cure. They were more often hypertensive [16/22 (73%) vs. 17/36 (46%), p = 0.04], and used statins more frequently [14/22 (64%) vs. 8/36 (21%), p = 0.004]. After regression analysis, hypertension was associated with diabetes [odds ratio (OR): 9.28 (95% CI: 1.59 - 54.00), p = 0.01], and cured/ controlled acromegaly was associated with protection against the presence of diabetes [OR: 0.17 (95% CI: 0.03 - 0.78), p = 0.02]. CONCLUSIONS The presence of DM was associated with active acromegaly and presence of hypertension. However, absolute levels of GH and IGF-1 did not differ between patients with and without diabetes.

Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient

Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients with this form of CAH. The patient, raised as a normal female, sought medical care for lack of pubertal signs and primary amenorrhea at the age of 16 years. At evaluation, the presence of a 46,XY karyotype, hypertension and hypokalemia were observed. We emphasize the recognition of CYP17 deficiency in the differential diagnosis of cases of hypergonadotrophic hypogonadism and hypertension in young patients who need specific treatment for both situations.

A successful case of Cushing's disease pregnancy treated with ketoconazole

Abstract Purpose: The association of pregnancy and Cushings disease (CD) is rare. Treatment of Cushings syndrome (CS) is imperative to reduce maternal and fetal morbidity. Ketoconazole is a widely used drug for CS control when the woman is not pregnant but concerns about its teratogenicity and embryotoxicity restricted its use during pregnancy. Methods and results: We describe a case of a CD patient managed with Ketoconazole during the first and second trimester and other cares for her metabolic CS aspects during pregnancy. She delivered a normal female baby. Conclusions: It is supposed that even with treatment the relatively hypercortisolemic mother could protect her child from the embryotoxicity of ketoconazole as proved in rat fetuses and we suggest that ketoconazole could be an emergency pharmacological therapeutic option for CS management during pregnancy.

Pseudotumor cerebri during Cushing's disease treatment with ketoconazole

Benign intracranial hypertension (Pseudotumor cerebri) has been described as related to the reduction in steroid levels in Cushings disease (CD), especially after surgical remission. Ketoconazole is a common and effective adjuvant therapy for hypercortisolism, but the major concern is liver enzyme dysfunction. We describe here the case of a 12-year old girl with CD who developed benign intracranial hypertension during treatment with ketoconazole. She presented headache, vomiting, a black spot on her right temporal visual field, and signs of elevated intracranial pressure. Pituitary image was normal on magnetic resonance image (MRI), and all symptoms improved after treatment with acetazolamide. We call attention to the diagnosis of this disorder in CD patients, especially children on ketoconazole treatment, because it could be confounded with adrenal insufficiency and lead to definitive severe visual impairment.

Role of ambulatory blood pressure monitoring in patients with acromegaly.

Background: Hypertension is associated with increased cardiovascular deaths in patients with acromegaly. Objective: To evaluate the accuracy of blood pressure (BP) by 24-h ambulatory blood pressure monitoring (ABPM) and office BP measurements to represent the real BP status in acromegalic patients and its relationship with acromegalic activity and echocardiogram parameters. Patients and methods: Cohort of 37 patients with acromegaly in a tertiary endocrine outpatient service. Results: Twenty-three percent of the patients were considered hypertensive by ABPM versus 32% by office BP measurements (P = 0.006). BP obtained from the ABPM was associated with growth hormone, insulin-like growth factor type 1 levels and echocardiogram parameters of acromegalic myocardiopathy. Nondipper behavior presented a significant association with the hormonal profile. Conclusion: BP levels assessed by ABPM were associated with acromegalic activity and echocardiogram parameters. ABPM can correctly identify BP levels and their repercussion on acromegalic patients.

Is cushing's syndrome remission associated with diabetes regression? Analysis of a retrospective cohort of 108 patients with cushing's disease

Background Diabetes mellitus (DM) is a common comorbidity of Cushing’s syndrome (CS) and plays an important role in morbidity and death of patients with uncontrolled hypercortisolism. Some authors define DM in CS as a ‘specific type of diabetes secondary to endocrinopathy’, although others judge it as a classical form of type 2 DM. Glucocorticoid (GC) excess causes pancreatic beta cell dysfunction and insulin resistance, which correlates with hypercortisolism level. If Cushing’s disease (CD) remission implicates on DM resolution remains unclear.