Piotr Miśkiewicz

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.

As nonclassic congenital adrenal hyperplasia (NCCAH) needs to be taken into account in women with hyperandrogenism, we aimed to assess whether the recommended level of poststimulated 17OHP ≥30 nmol/l confirms NCCAH.

Prevalence of Radiological Signs of Dysthyroid Optic Neuropathy in Magnetic Resonance Imaging in Patients with Active, Moderate-to-Severe, and Very Severe Graves Orbitopathy

Background: Differentiating between dysthyroid optic neuropathy (DON), which requires urgent therapy to prevent blindness, and moderate-to-severe Graves orbitopathy (GO) remains challenging. There is no pathognomonic feature of DON in either ophthalmological or radiological examinations. Objectives: Our aim was to investigate the prevalence of radiological signs of DON in magnetic resonance imaging (MRI) in patients with moderate-to-severe and very severe GO. Methods: Two researchers reassessed MRI scans of 23 consecutive patients (46 eyes) with active, moderate-to-severe GO and 14 patients (23 eyes) with very severe GO. Typical signs of DON in MRI include apical crowding and optic nerve stretching. These were evaluated in the eyes of both groups of patients. Lack of cerebrospinal fluid in the optic nerve sheath as well as muscle index values were also studied. These clinical evaluations and laboratory results were then compared between groups. Results: At least one of the typical radiological features of DON was found in 22 (96%) and 16 (35%) eyes with very severe and moderate-to-severe GO, respectively. Each occurred statistically more often in patients with very severe GO. There were no ophthalmological signs of very severe GO observed in the group of patients with moderate-to-severe GO during the study or its subsequent follow-up (234 weeks). Conclusions: MRI is a useful tool in evaluating very severe GO. However, features typical for DON are also found in up to 35% of eyes in patients with active, moderate-to-severe GO. Therefore, ophthalmological evaluation seems to be most important in the recognition of very severe GO.

Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves’ ophthalmopathy

The role of TPO gene polymorphism in the susceptibility to Graves’ disease (GD) remains unclear. However, single-nucleotide polymorphisms (SNPs) near TPO have been recently associated with serum levels of thyroid peroxidase (TPO) antibody in two independent genome-wide association studies. Moreover, we have observed a strong association between the rs11675434 SNP located near TPO and the presence of clinically evident Graves’ ophthalmopathy (GO). The aim of the current study was to reevaluate and dissect this association in an extended group of 1231 well-characterized patients with GD (1043 adults and 188 children) and 1130 healthy controls from the Polish Caucasian population, considering possible gender-dependent and age-of-onset-specific effects of the studied SNP. We found that the T allele of rs11675434 was significantly more frequent in GD patients with than without GO (odds ratio (OR)=1.26, 95% confidence interval (CI)=1.05–1.51, P=0.012), which was consistent with our previous findings. Further analyses performed in subgroups of patients showed that the association with GO was significant in adult patients with age of GD onset ⩾45 years (OR=1.34, 95% CI=1.03–1.75, P=0.031), but not in children and adolescents or adult patients with earlier onset of the disease (OR=1.72, 95% CI=0.77–3.84, P=0.18 and OR=1.05, 95% CI=0.79–1.40, P=0.75, respectively). Moreover, a strong association with GO was present in males (OR=2.06, 95% CI=1.40–3.02, P=0.0002), whereas it was absent in females (OR=1.10, 95% CI=0.90–1.35, P=0.35). The results of our study further suggest that rs11675434 SNP located near TPO is associated with the development of GO, especially in males and patients with later age of GD onset.

Comparison of phenoxybenzamine and doxazosin in perioperative management of patients with pheochromocytoma

BACKGROUND Adrenalectomy with preoperative pharmacological preparation is strongly recommended in patients diagnosed with pheochromocytoma, in order to prevent perioperative complications. AIM To compare phenoxybenzamine (PhB) and doxazosin (DOX) in terms of perioperative haemodynamic status in patients with pheochromocytoma, who have been prepared for adrenalectomy. METHODS Retrospective analysis of 44 patients with pheochromocytoma (aged 16-80 years, 29 females) who underwent adrenalectomy. Patients were divided into two groups: 35 patients on DOX and nine patients on PhB. RESULTS Mean time of preparation for surgery was 38.8 days in the DOX group and 18.3 days in the PhB group (p = 0.04). No statistically significant differences between the DOX and PhB groups in intraoperative blood pressure (BP) fluctuations were found: < 170/100 mm Hg (34% vs. 44%, respectively, p = 0.42), ≥ 200/110 mm Hg (40% vs. 22%, respectively, p = 0.28). Mean greatest intraoperative systolic BP (195 ± 53 vs. 166 ± 42 mm Hg, p = 0.21) and diastolic BP (98 ± 20 vs. 89 ± 46 mm Hg, p = 0.21), and mean lowest intraoperative systolic BP (87 ± 13 vs. 79 ± 17 mm Hg, p = 0.25) and diastolic BP (49 ± 8 vs. 46 ± 12 mm Hg, p = 0.60) were not different between the DOX and PhB groups, respectively. Sodium nitroprusside was administrated in 30% DOX vs. 11% PhB patients (p = 0.25). Laparoscopic surgery was conducted in 97% DOX vs. 89% PhB patients (p = 0.64). Postoperative BP drop below 90/60 mm Hg was noted in 48% of the DOX vs. 43% of the PhB group (p = 0.56). Negative correlation was found between the length of DOX administration with maximal intraoperative systolic BP (r = -0.45, p = 0.006) and diastolic BP (r = -0.39, p = 0.019). CONCLUSIONS There are no clinically relevant differences between patients with pheochromocytoma, who have been prepared for adrenalectomy with DOX or PhB.