ACTA ENDOCRINOLOGICA (BUC)

Gangliocytomas are extremely rare tumors, accounting for 0.1-0.5% of all brain tumors. We present a 25 years old woman with several characteristics of restrictive anorexia nervosa in association with a gangliocytoma of pineal region. The patient has been diagnosed with hydrocephalus shortly after birth. A ventriculoperitoneal shunt was initially inserted. At the age of 19 she underwent 2 consecutive occipital craniotomies for a well-defined large mass in the pineal region. Histopathological examination of this tumor revealed a gangliocytoma. Our patient began to reduce her food intake due to the concept that ”the tumor must not be fed”. After an almost 30 kg weight loss over 5 years, the patient weighs 39 kg at 165 cm height (BMI 14.3 kg/sqm), associated with a 1 year history of secondary amenorrhea and a tumor remnant of 4 cm. The weight loss, amenorrhea and some other psychosocial traits are common for anorexia nervosa. We discuss the difficulty of the differential diagnosis between anorexia nervosa and a hypothalamic eating disorder induced by the pineal gangliocytoma.

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.

The underlying mechanisms for endocrine disturbances in patients with kidney alterations are complex. Aim. To provide better longitudinal follow-up of children, especially to check their progress through puberty. Material and methods. A prospective study was conducted at the “Louis Turcanu” Emergency Hospital for Children in Timisoara, Romania during 01.01.2022- 31.12.2024. The study population included ten pediatric patients with end stage renal disease (ESRD) on hemodialysis. Data were collected from the electronic medical records and included demographic information and relevant laboratory parameters, which reflect the patients’ anemia status, inflammation, mineral metabolism and other endocrine abnormalities. Results. Erythropoietin doses ranged from 87 to 176 units/kg once a week at the beginning of our study, higher than guidelines recommendations. Most patients presented with hemoglobin levels below the normal range which slightly increased over the 3 years period. Vitamin D levels ranged from 8.1 to 55.8 ng/mL. These resulted in a poor control of the mineral bone disease associated with kidney failure. Conclusions. The loss of kidney function is associated with an impaired control of phosphor-calcium balance, and anemia, growth and pubertal delay in children. This study highlights the need for individualized treatment plans and a multidisciplinary approach in pediatric patients with ESRD.

Background. Genetic variants of the endothelial nitric oxide synthase (eNOS) gene have\r\nbeen reported to be associated with cardiovascular disease. We hypothesized that G894T\r\npolymorphism might trigger many of the endocrine-metabolic changes related to metabolic\r\nsyndrome (MetS).\r\nStudy Design. 148 subjects with MetS and 142 healthy control subjects aged 23-60 years\r\nwere studied. Fasting serum levels of insulin, cortisol, 17-OH Progesterone, DHEA,\r\nandrostendione, IGF1, GH, PRL, CRP, resistin and biochemical profile were evaluated. G894T\r\n(eNOS) polymorphism was assayed by using PCR-RFLP technique.\r\nResults. The frequencies of genotypes and alleles of G894T polymorphism did not deviate\r\nfrom the Hardy-Weinberg equilibrium. In the MetS group the percentages of both GT (51.35 vs.\r\n39.44; OR=2.09; CI=1.27-3.45; p= 0.003) and TT (16.22 vs. 8.45; OR=3.08; CI=1.41-6.74;\r\np=0.003) genotypes and T allele (41.9 vs. 28.2; OR=1.83; CI=1.3- 2.6; p=0.0005) significantly\r\nincreased compared to control group. The G894T polymorphism was more significantly\r\nassociated with the MetS in the presence of cortisol, 17-OH Progesterone, PRL, IGF1 and CRP\r\n(OR= 8.20; 95%CI=2.31-29.08; p=0.001) and significantly stronger in the presence of IGF1,\r\nPRL, 17OHP, resistin and CRP (OR= 10.21; 95%CI=2.42-43.05; p=0.002). The T allele carriers\r\nhad higher values of waist circumference, systolic and diastolic blood pressure, cortisol, 17-OHP,\r\nandrostendione, PRL, resistin and lower values of glucose, HOMA-IR in MetS group; The TT\r\ngenotype carriers had higher values of triglyceride in both control and MetS group.\r\nConclusion. Our results show an interaction between the G894T polymorphism and its\r\nphenotypes in conferring a higher susceptibility to the endocrine changes involved in\r\npathogenesis of MetS suggesting a role of the eNOS gene in the modulation of the molecular\r\nendocrine mechanisms.