ACTA ENDOCRINOLOGICA (BUC)

Background. Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia. Case presentation. A 13-month-old boy was diagnosed with isolated methylmalonic acidemia. We identified two mutations in the MMAA gene in this case: c.491G>A and c.650T>A. The c.491G>A is a novel mutation in the MMAA gene. The boy is a heterozygous carrier of both mutations. The boy was treated with intravenous sodium benzoate and fluids. His sensorium gradually improved and he recovered from the acute illness. Other family members are heterozygous carriers of either mutations but with no symptoms. Conclusions. We identified a novel c.491G>A mutation in the MMAA gene. Heterozygous carriers of both c.491G>A and c.650T>A mutations are associated with isolated methylmalonic acidemia.

The 2011 American Thyroid Association (ATA) guidelines recommended that the interpretation of thyroid function in pregnancy be based on trimester specific reference ranges: TSH values should be 0.1-2.5 mIU/L (first trimester), 0.2-3.0 mIU/L (second trimester), and 0.3- 3.5 mIU/L (third trimester)(1). Recently, a study performed on a nationwide cohort of 6671 Danish healthy pregnant women and published in June 2016 in Journal of Clinical Endocrinology and Metabolism (4) showed first trimester values of TSH varied according to gestational week. Up to sixth week of pregnancy, TSH levels had nonpregnant reference ranges. During weeks 9- 12, TSH serum level were 0.4 mUI/L lower than non-pregnancy upper limits, with lower range of 0.1 mUI/l. So, the use of uniform limits of TSH normality for the entire first trimester may lead to frequent misclassification and unnecessary treatment given. Although with indolent behavior, patients with encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) are often treated as classical papillary thyroid carcinoma. In a retrospective study recently published in the Journal of the American Medical Association Oncology(5), authors reevaluated 268 EFVPTC. In group 1(noninvasive EFVPT), patients observed for 10 -26 years and all were alive with no evidence of disease. Based on this low risk of adverse outcomes of patients from group 1, authors suggested a new nomenclature for this thyroid tumor: “noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)”.

The objective of this study is to investigate the relationship between paraoxonase 1 (PON1) activity and dyslipidaemia in Northern Chinese diabetic patients with chronic renal failure (DM-CRF). For this purpose, 45 diabetic patients with CRF, 63 non-diabetic patients with CRF, 90 type 2 diabetic patients without CRF were investigated, as well as 70 subjects without diabetes and CRF. The serum PON1 activity and serum lipids, high-density lipoprotein cholesterol (HDLc) were determined. The results showed that, as compared to control subjects, serum ArE1/PON1 activities were significantly decreased in patients with diabetes, CRF and DM-CRF. In a further investigation of the relationship among ArE/PON1 and lipid parameters in all groups, not only serum ArE/PON1 activity, but also ratios of serum ArE/TC and ArE/HDL3c were found to be significantly decreased in the three groups, and the degree of decrement was DM-CRF>CRF>diabetes. In DM-CRF group, multiple regression analysis showed that ArE/PON1 was closely related to HDL2C, Apo A1 and HDLC. ArE/TC was also related to HDL2C, Apo A1, HDLC/TC and HDLC. In conclusion, serum ArE/PON1 can be one of the signals reflecting the disorder of lipid metabolism of CRF, especially in DM-CRF patients.

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Isolated sarcoidosis of the hypothalamic-pituitary system is a very rare form of neurosarcoidosis. A high index of suspicion is required for diagnosis and the choice of therapy embodies another challenge due to lack of standardized protocols. Glucocorticoids are the mainstay of initial treatment, whereas the second and third-line therapy include immunomodulators and cytotoxic drugs, in addition to monoclonal antibodies. This report presents an unusual case of panhypopituitarism in a 32-year-old previously healthy male patient due to isolated hypothalamo-pituitary sarcoidosis confirmed histologically, refractory to pulsedose glucocorticoids and then successfully treated by methotrexate. Based on our report, in patients requiring additional therapy usage of the methotrexate as the second line agent should be considered, however the time frame and the dosing schedule of methotrexate are still unknown and deserve further investigation.

Ectopic lingual thyroid is a rare developmental abnormality caused by aberrant embryogenesis during thyroid migration. Even though, most patients are asymptomatic, uncommonly the mass can be enlarged and cause dysphagia, dyspnea, upper airway obstruction, dysphonia, hypothyroidism. We report a very rare case of ectopic lingual thyroid presenting with massive hematemesis.

Arteriovenous malformations of adrenal gland are extremely rare. We report a case of an adrenal arteriovenous malformation, mimicking an adrenal tumor in preoperative imaging. A 48-year-old woman presented to our clinic with abdominal pain. A 9x7 cm right adrenal tumor was detected. Based on the imaging findings, adrenal adenoma was suspected. However, clinical symptoms and endocrine abnormalities were absent, the lesion was thought to be non-functional. Laparoscopic right adrenalectomy was performed. Pathologically, this was diagnosed as an adrenal arteriovenous malformation. To the best of our knowledge, this is the first reported case of an adrenal arteriovenous malformation in the current literature.

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4:c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.

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Background. Primary lymph nodes gastrinomas are rare and difficult to diagnose not only because of their small size, but also because modern imaging techniques have limitations in detecting duodenal and/or adjacent lymph nodes gastrinomas. Endoscopic ultrasonography is particularly useful in the identification of gastrinomas and can provide cytopathological evaluation for a gold standard diagnosis. Aim. To report a rare case of periduodenal lymph node gastrinoma and to emphasise the value of endoscopic ultrasound evaluation in patients with Zollinger Ellison syndrome. Methods. Presentation of clinical case and comments. Results. The current study reports a rare case of a patient with a small size gastrinoma located extrapancreatically and extraduodenal in a periduodenal lymph node, which exhibited the Zollinger-Ellison syndrome. Gastroduodenoscopy evidenced moderate esophagitis and multiple, superficial gastroduodenal ulcers. Basal gastrin levels were elevated. Enhanced abdominal computer tomography showed a small tumor located near the pancreas head with a very fast and fine enhancement in an early arterial phase. Endoscopic ultrasound-guided fineneedle aspiration of the periduodenal lesion was performed. Histopathology and immunohistochemistry evaluation were positive for a low risk neuroendocrine tumor. A double dose of proton pump inhibitors was recommended resulting in an improvement of symptoms. No symptoms, endoscopic lesions or additional tumors at up to 9 months of follow-up were detected. Conclusions. We report a rare case of low risk lymph node gastrinoma, small in size at diagnosis with favorable results after a double dose of proton pump inhibitors was recommended. Using endoscopic ultrasound, an early and complete diagnosis was established.