ACTA ENDOCRINOLOGICA (BUC)

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Turner syndrome is one of the genetic disorders studied on their association with celiac disease. We present a 27 year old female with an association of Turner syndrome and celiac disease. Gluten intolerance presenting with atypical extraintestinal symptoms (recurrent aphthous stomatitis, iron-deficient anemia, short-stature) was confirmed by intestinal biopsy showing flat small bowel mucosa (Marsh IIIc lesion) and a peripheral lymphocyte karyotype analysis revealed a Turner syndrome determined by isochromosome 46,X,i (Xq) structural abnormality. Our patient fits perfect into this variant of Turner’s Syndrome presenting at least one autoimmune disorder (celiac disease) and hearing loss. Her clinical, biological and immunological disturbances caused by two irreversible disorders have a poor outcome in the absence of gluten-free diet associated with adequate endocrinologic treatment and need sustained long-term follow - up for a good quality of life.

Background. Congenital hypothyroidism (CH) is the most common congenital endocrine disease with reported high prevalence of associated congenital anomalies which are also present in case of congenital cytomegalovirus (cCMV) infection. Subjects and Methods. We present two cases of newborns cCMV infection with CH. In the first case thyroid agenesis was diagnosed and cCMV infection was also confirmed for the hypotonia persistence after L-thyroxine treatment. In the second case thyroid dyshormonogenesis was diagnosed with maternal CMV serological conversion in the first trimester of gestation and confirmed post-neonatal infection. Incidence of CH has increased in the Italian region of Piedmont in the years 2014-2019 up to 1:1090 with higher incidence of cCMV infection in the babies with diagnosis of CH (12/1000 vs. 5-7/1000 in the newborns without CH). To our knowledge, no data on the association of cCMV infection with a CH condition have been reported in the literature to date. Conclusions. The described cases could be useful to alert caregivers in case of maternal seroconversion to avoid maternal and foetal hypothyroidism. On the other hand, when the clinical condition of newborns with CH diagnosis do not improve after l-thyroxine treatment, it might be important to consider cCMV infection.

Primary bilateral adrenal lymphoma is a very rare cause of adrenal insufficiency. We report the case of a 63-year-old woman who presented with signs and symptoms of impending adrenal crisis when referred for evaluation of large bilateral adrenal masses diagnosed on a computed tomography scan two weeks prior. Based on a high clinical suspicion of adrenal insufficiency, patient was initiated on glucocorticoid and mineralocorticoid therapy prior to laboratory confirmation of adrenal insufficiency. After stabilizing the patient and excluding pheochromocytoma, we proceeded with adrenal biopsy that revealed a nongerminal center-type diffuse large B-cell lymphoma. Our patient was treated with R-CHOP chemotherapy, with good response after 3 cycles but eventually died after the fifth cycle from neurologic complications. This case highlights the notion that primary adrenal insufficiency should be considered in patients presenting with bilateral adrenal masses. Although primary adrenal lymphoma is a very rare adrenal malignancy it should be considered in patients presenting with bilateral rapidly growing adrenal tumors and primary adrenal insufficiency.

We describe the effects of a phytotherapy application for purpose of weight loss in a case of hyperkalemia. A 59-year-old woman presented with fatigue and weakness for the previous three months. Physical examination was unremarkable, apart from obesity. Her serum potassium level was 5.54 mmol/L. The patient’s symptoms were attributed to hyperkalemia. We learned that the patient had been using a mixture of three sticks of cinnamon dissolved in one liter of water and lemon juice every day for three months as a slimming regimen. The hyperkalemia was attributed to phytotherapy applied as a slimming regimen.

Retroperitoneal fibrosis (RPF), a disease with a severe outcome due to the complications it causes, can be associated with the processes of atherosclerosis with a massive and extensive fibrosis. In this paper we present a patient with retroperitoneal fibrosis in which we noticed estrogen receptors at the level of the periaortic fibrous tissue\r\nand we obtained a regression of this process under treatment with tamoxifen.

Prolactinoma causing obstructive hydrocephalus is quite rare. We present a case of a 28-year-old previously healthy man who presented with sudden onset of dysarthria and expressive aphasia along with intense bifrontal headache and shortterm memory loss. Initial brain CT and brain MRI revealed a large 5.2 x 4.7 x 2.6 cm suprasellar mass, which extended to the third ventricle reaching up to the foramen of Monro and laterally displacing both internal carotid arteries. He was emergently placed an external ventricular drainage to relieve intracranial hypertension which led to immediate reversal of mental status as well as speech ability. His extensive endocrine work-up demonstrated a prolactin level with dilution of 12,650 µg/L (normal=2-18 µg/L) (549,996.7 pmol/L) consistent with the diagnosis of giant macroprolactinoma. Bromocriptine was initiated with successful tumor shrinkage and normalization of prolactin level within 7 months after initial presentation. Our case demonstrates the importance of obtaining a thorough hormonal evaluation of a large sellar lesion causing obstructive hydrocephalus to allow for an accurate diagnosis. It also demonstrates the effectiveness of medical therapy in the treatment of macroprolactinomas, even if very large. Medical treatment with dopamine agonists is still a first-line, effective approach with a favorable outcome in patients with giant macroprolactinomas causing intracranial hypertension and neurological symptoms as was the case in our patient.

Insulinoma is the most common endocrine tumor of the pancreas. The diagnosis suspicion is usually based on clinical symptoms and is confirmed by biochemical tests. Because the majority of insulinomas have a small size, the real problem is the localization of these tumors before surgery. We present the diagnostic and therapy difficulties, the value of available imaging techniques as well as our experience in five consecutive insulinoma patients from our clinic.

Chest pain in children is a common referral for emergency examination, although it is believed that the underlying condition is not a serious event. The authors present the case of a 17 years old male with complaints of chest pain with a very recent onset, constant, experienced after physical effort. All medical history and physical examination findings were normal, the poster-anterior chest X-ray revealed a heterogenous opacity in the middle third of the right hemithorax confirmed on computerized tomography as a large solid anterior mediastinal mass with a diameter of 7.5/10.3 cm. By thorax surgery the mass was identified in the anterior and superior mediastinum and total resection was achieved for the tumor mass and thymus. Pathology examination showed poor small and medium epithelial cells proliferation and the tumor was classified as thymoma type 1B. Mediastinum is a rare location of space occupying processes in children. Also, there is a high rate of asymptomatic lesions in this area, considering that half of them are incidentally discovered for various chest X ray examinations. Many causes of chest pain in children are benign; nonetheless, some serious events do exist sometimes and pediatricians must pay attention to identify and manage those cases.