ACTA ENDOCRINOLOGICA (BUC)

Context. Pheochromocytomas are very rare but important and potentially life-threatening sources of ectopic ACTH secretion (EAS), and the diagnosis of Cushing’s syndrome due to adrenocorticotropic hormone (ACTH)- producing pheochromocytoma needs a high index of suspicion. Case presentation. Herein, we present a rare case of catastrophic Cushing ‘s syndrome due ACTH-producing pheochromocytoma in a 59-year-old woman, which was characterized by severe hypercortisolism, markedly elevated ACTH levels and rapidly progressed and persisting metabolic derangements, and complete resolution of symptoms and signs after adrenalectomy, despite no biochemical evidence of pheochromocytoma and the coexisting adrenal cortical adenoma. The timely recognition of findings sufficient to raise the suspicion of an ACTH-producing pheochromocytoma is crucial to plan surgical resection of the adrenal mass which is the only curative option enabling quick recovery with complete amelioration of symptoms and signs and restoration of organ functions. Conclusions. In this regard, our case highlights the likelihood of severe hypercortisolism even in the absence of typical Cushingoid features, and the consideration of suspected diagnosis of ACTH-releasing pheochromocytoma even in the absence of biochemical evidence on catecholamine hypersecretion when workup is suggestive of an ectopic source along with an adrenal mass on imaging.

Context. Recent studies have demonstrated a strong association between cardiorespiratory fitness (CRF) and mortality, but bias due to differences in the distribution of baseline variables has not been adequately considered. We studied a cohort of veterans with and without Type-2 diabetes using a propensity score matching method. Methods. Males with (n=592) and without (n= 6,167) Type-2 diabetes were studied. Propensity scores were used to balance covariate distributions between groups with and without Type-2 diabetes. All-cause mortality was the end point. Results. Predictors of mortality included hypertension, smoking, Type-2 diabetes, BMI and CRF. For each 1 MET increase in CRF in the unmatched group, the adjusted HR was 0.83 in those with diabetes (95% CI 0.77- 0.89; p<0.0001) compared to 0.87 in those without diabetes (95% CI 0.86-0.89; p<0.0001). Similar trends were observed for the matched dataset: the adjusted HRs were 0.83 (95% CI 0.77-0.90; p<0.0001) and 0.88 (95% CI 0.82-0.94; p<0.0001) for those with and without diabetes, respectively. Conclusions. CRF is a strong predictor of mortality in veterans with and without Type-2 diabetes. Although the trend in the association between CRF and all-cause-mortality was similar for matched and unmatched data, the mortality risks were relatively inflated when using unmatched data.

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/ genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received offlabel treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

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Context. Immunoassays are vulnerable to occasional analytical errors despite their sensitivity and specificity. Adrenocorticotropic hormone (ACTH) is among hormones which are vulnerable to assay interference. Objective. In this case report, we aimed to present a case of ACTH interference in a patient with subclinical hypercortisolism. Case report. We present a case of subclinical hypercortisolism with unexpectedly elevated levels of ACTH in whom interference was shown by different biochemical methods. It is important for the clinician to keep in mind the possibility of interference when clinical and laboratory results are discordant. The communication between the clinician and laboratory staff is important while interpreting results. This case report shows that ACTH interference should be considered in patients with subclinical hypercortisolism who have unexpectedly high levels of adrenocorticotropic hormone.

Background. An adrenal collision tumor is a rare entity. We present a rare combination of giant adrenal ganglioneuroma (GN) and myelolipoma. GN is a rare benign tumor of the adrenal medulla that originates from primitive neural crest cells, while myelolipoma is a benign tumor of the adrenal cortex comprising of mature adipose tissue and blood components. Case Report. We present a case of a 52-year-old male who presented with generalized body swelling with episodes of vomiting and diarrhea. There was no history of abdominal pain or any significant history. Routine laboratory investigations and endocrine workup were within normal limits. MRI was performed for unexplained symptoms, and which revealed a solid homogeneous mass measuring 9x7x4.5cm arising from the adrenal gland. A diagnosis of myxoid adrenocortical neoplasm was suggested, and laparoscopic left adrenalectomy was performed based on imaging findings. The final diagnosis of coexisting giant adrenal GN with myelolipoma was made on histopathological examination, which was further confirmed by immunohistochemistry. Conclusion. Ganglioneuroma coexistence with myelolipoma is a rare finding in the adrenal gland. Therefore, histopathology is imperative in such cases for a definitive diagnosis.

Zygomycosis is a frequently fatal infection in the immunocompromised and diabetic host. A 12 year old girl with type 1 diabetes presented in diabetic ketoacidosis and consolidation of right lung along with thymic abscess causing persistent respiratory symptoms. A diagnosis of\r\nmucormycosis was made on smear examination of the thymic aspirate. Intravenous amphotericin along with surgical excision of the abscess resulted in clinical cure. Thymic involvement as seen in this case is an extremely rare occurrence in a diabetic patient which has not been\r\nreported in literature so far .

Context. Propylthiouracil (PTU) could cause lupus or vasculitis-like hypersensitivities thus interfering with some other concomitant diseases. Objective. Clinicians must be aware of the side effects of medications, particularly after their introduction and long-term use. Some clinical manifestations may be similar to well-known drug side effects or hypersensitivity. Every unusual clinical scenario related to drug use must be evaluated individually and thoroughly. Subjects and Methods. Hands and feet skin changes were observed several days after PTU administration in a male patient with severe diffuse toxic goitre. A complete blood count, biochemistry analyses, thyroid function tests and antibodies, and immunology analyses were performed. Results. As the skin changes were distributed regionally, liver function tests were normal, and there were no signs of clinical deterioration, it was decided to continue PTU treatment and monitor the patient. The initial maculopapular rash quickly turned vesicular, then scaly. After two weeks, the skin changes were wholly restored, with no scarring. Hand, Foot, and Mouth disease (HFMD) was diagnosed after a thorough epidemiological survey and clinical workout. Conclusions. Our case study demonstrates that skin changes associated with HFMD may resemble those associated with PTU-induced vasculitis.

A 5 year 2 months old boy was admitted in our hospital for failure to thrive, muscle weakness, bowing of legs, walking difficulties. At the age of 14 months he had been investigated for failure to thrive. Clinical, biochemical and radiologic signs were suggestive for rickets. Positive celiac serology and histology of the small bowel were consistent with the diagnosis of celiac disease (CD). Treatment included parenteral vitamin D and gluten free diet. The parents did not accept the diet, but the child received a daily vitamin D supplementation of 1000 IU. At the age of 4 years celiac serology was positive and the second duodenal biopsy was normal. \r\nPhysical examination, biochemical data, and rachitic changes on x-ray were compatible with the diagnosis of rickets. Clinically severe rickets, hypocalcemia, elevated level of PTH demonstrating secondary hyperparathyroidism, and low level of calcitriol determined the diagnosis of vitamin D-dependent rickets type I (VDDR I). Although being on a normal diet, tissue antitransglutaminase antibodies were negative, but HLA genotyping showed DQ2 positive. \r\nThe patient associated the diagnosis of VDDR I and latent CD. The VDDR I was masked by CD, rickets being attributed to malabsorption.