ACTA ENDOCRINOLOGICA (BUC)

Context. Learn the growth hormone dynamics and discuss the issues of growth hormone therapy in subjects with 45,X/46XY. Objective. To study the growth hormone dynamics in children with 45,X/46,XY karyotyping and mixed gonadal dysgenesis (MGD). Design. Descriptive clinical study. Participants. Five subjects with karyotype 45,X / 46,XY with or without genital ambiguity and somatic features of SHOX haploinsufficiency. Interventions. Growth hormone dynamic study and gonadectomy. Main outcome. IGF-1, peak GH levels, Turner’s stigmata and histology of gonadal tissue. Results. Five cases of MGD with both male and female phenotype were studies. IGF-1 levels and GH levels showed both features of growth hormone deficiency and growth hormone insensitivity. One study subject has gonadal germ cell tumour (dysgerminoma). We discuss here the issues regarding the GH therapy in MGD subjects. Conclusion. Growth deceleration in MGD subjects is partly due to defective growth hormone secretion and partly due to growth hormone insensitivity. MGD subjects are at high risk for occurrence of gonadal tumours. Gonadectomy or biopsy of underlying dysgenetic gonads is essential prior GH therapy. Close surveillance for second neoplasm is to be considered in subjects with history of gonadal tumors prior starting GH for short stature.

We present the case of a 32 yeas old male, diagnosed 7 years ago with Graves disease, with numerous recidives which needed anti-thyroid medication, with poor response (hypo to hyper-thyroid status, with high variations of TSH and FT4) whom after a period of remission (8 months, no treatment) came in for a polymorphic symptomatology sugestive for hyperthyroidism. The hyperthyroid state was confirmed he had high TRAb (31 UI/ml vs. <1.75 UI/ml) - on his last check in the detection rate of TRAb was under 0.3 UI/ml. The thyroid ultrasound revels on the left lobe a small mass of 0.8/0.8 cm, with EU-TIRADS score of 4, that was newly diagnosed. Postoperative histopathology revealed papillary microcarcinoma developed on Hashitoxicosis- pT1aN0, of 1 mm in the middle of left thyroid lobe. The particularity of this case consists in a long evolution of Graves disease with numerous relapses, the appearance of a thyroid nodule after 7 years in which they identified a papillary microcacinoma associated with Hashimoto thyroiditis and also the postoperative recovery that was slowed by the parathyreoprive tetany.

There is increasing evidence that diabetes mellitus and its complication diabetic\r\nketoacidosis confer an increased risk of venous thromboembolism. Pulmonary embolism is\r\nthe most serious venous thromboembolic event that is rarely reported in association with\r\ndiabetic ketoacidosis. We report a case of saddle pulmonary embolism that presented\r\nsimultaneously with diabetic ketoacidosis. Though radiologically massive, saddle\r\npulmonary embolism does not confer any difference in management decisions or prognosis\r\nfrom other forms of pulmonary embolism. It is important to appreciate the relation between\r\ndiabetic ketoacidosis and venous thromboembolism in order to further evaluate the need for\r\nprophylactic anticoagulation and to increase the suspicion and recognition of venous\r\nthromboembolic events in patients with diabetic ketoacidosis.

A 55-year-old female patient was admitted for flushing and abdominal pain in the right upper quadrant. Her past medical history revealed high blood pressure and a recent echocardiography showed thickened appearance of tricuspid valve with coaptation defect and grade II tricuspid regurgitation. Contrast enhanced abdominal CT scan and MRI were subsequently performed and revealed a large macronodular liver mass, as well as other micronodular lesions disseminated in the liver parenchyma. CT guided biopsy from the main liver mass revealed neuroendocrine tumor of unknown origin (probably GI) with Ki-67 of 8%. Surgical exploration was decided. During laparotomy, the primary tumor was found in the proximal ileum and the patient underwent segmental enterectomy. Non-anatomical hepatectomy was also performed to remove the bulk of the tumor burden (more than 90%). Postoperative course was uneventful and the carcinoid syndrome relieved. At present, 15 months postoperatively, the patient is under treatment with somatostatin analogue for its antiproliferative effect, with good clinical, biochemical and tumoral control and stable heart disease. In patients with neuroendocrine liver metastases from unknown primary, surgical exploration could allow detection (and resection) of the primary tumor and surgical debulking of liver metastases to control carcinoid syndrome and carcinoid heart disease.

Context. Giant parathyroid adenoma (GPA) is a rare entity that is rarer with Multiple endocrine neoplasia type 1 (MEN1) syndrome. Objectives. Describe the clinical presentation, diagnostic difficulties, and management strategy for GPA in MEN1 Methods. We searched Pubmed, SCOPUS and EMBASE for GPA in MEN1 for GPA in association with MEN1. Hereby, we describe index case of largest ever reported GPA. Results. We identified 7 cases of GPA reported till date in association with MEN1. The mean adenoma weight was 7.1 gram. The index case is largest-ever reported GPA (weight 97 gram) in MEN1 presenting with compressive symptoms and mediastinal mass. Incidentally, she was found to have hypercalcemia with increased parathyroid hormone, suggesting primary hyperparathyroidism. The possibilities of an ectopic parathyroid tumor and thymic carcinoid were considered. She also had acromegaloid features, and was found to have a sellar tumor. Subsequently, MENIN gene mutation was identified confirming MEN1 syndrome. Patient underwent trans-sternal excision of the mass weighing 97 grams and confirmed as parathyroid adenoma on histopathologic examination. Conclusion. Despite rarity of ectopic mediastinal parathyroid tumors, calcium profile should be considered as part of work-up of considering varied etiologies of anterior mediastinal mass.

Background. Several studies observed metabolic disorders in pregnancy as risk factors for birth defects, including orofacial clefts. Diabetes is associated with approx. 10% of the pregnancies, but in Romania, less than 5%. An obese and diabetic woman has 3 times more risk for an offspring with a craniofacial defect than healthy women suggesting that diabetes mellitus contributes to their pathogenesis with complex mechanisms. Case report. We present the case of a newborn 4 days old, male with neonatal hypoglycemia, cleft lip and proportionate (symmetric) macrosomia. His mother is a 35 years old Caucasian woman with no important personal risk factors and no known history of diabetes mellitus. The glucose tolerance test performed to the mother at about 10 weeks during pregnancy led to the diagnosis of gestational diabetes. Discussion. The gestational diabetes mellitus diagnosed since the 10th week of pregnancy, the hyperglycemia status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the Orofacial cleft (OFC). Conclusion. With the increased prevalence of obesity, diabetes, and the evidence of association of these syndromes with OFCs, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes prior to conception and early in pregnancy.

Genetics of cancer is a hot topic, an excellent example of translational medicine. Risk stratification, selection of cases for surgery in Bethesda categories 3 &4 FNAB are examples of the high impact of genetic evaluation in thyroid neoplasia.

-

Context. Subacute thyroiditis (SAT) is a transient inflammatory disease that occurs often after an upper respiratory tract infection. Permanent hypothyroidism ratio is reported in 5-26% of the SAT patients. Objective. In this study, we tried to compare the treatment options on permanent hypothyroidism in our SAT patients. Design. It is a retrospective study. The medical records of SAT patients between 2010 and 2015 were analysed. Subjects and Methods. The medical records of 81 patients were analysed for demographic data, laboratory and clinical course, treatment and 1 year outcome. 81 patients were classified in steroid (n=29), nonsteroidal antiinflammatory drugs (NSAID) (n=33) and steroid+NSAID (n=19) groups. Results. Male/female ratio was similar and female domination was demonstrated in all groups. In the steroid and NSAID groups the pretreatment thyroid function tests were diagnosed as hyperthyroidism. In the steroid+NSAID group they were not diagnosed as hyperthyroidism in the beginning. In all groups the thyroid function tests were all in normal levels (p˃0.05) one year later. In all groups the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were increased in the pretreatment period and decreased with the treatment. In total, right lobe involvement of thyroiditis was more detected (40/81 (49%)) (p=0.018). Permanent hypothyroidism observed in steroid, NSAID, and steroid+NSAID groups were 7/29 (24%), 5/33 (15%), 3/19 (16%) respectively (p˃0.05). Conclusion. In this study, treatment drug option did not affect the permanent hypothyroidism one year after in our SAT patients.

Context. Acromegaly is a rare and serious syndrome and commonly associated with pituitary neoplasm. Classic cause of acromegaly in adults is the tumors of the somatotrophs that secrete growth hormone. Cirrhosis is the end stage of chronic liver disease and commonly a cause of death. It is\r\ncharacterized by diffuse hepatic fibrosis resulting in altered construction of the lobular parenchyma with widespread connective tissue septae, circumscribed\r\nregenerative nodules of hepatocytes and anastomoses between vascular channels linking portal and central vessels.\r\nObjective. To report the simultaneous cases of acromegaly and cirrhosis.\r\nCase report. A 62-year old, male patient came to the hospital complaining of severe abdominal swelling. Laboratory and imaging findings were compatible with the\r\npresence of hepatitis B virus related cirrhosis together with acromegaly. In this case, he had high GH level but lower IGF-1 level because of hepatic failure which can\r\nimpair IGF-1 production by the liver. Definitive diagnosis was made by pituitary MR and a 1 cm in diameter tumor was\r\ndetected.\r\nConclusion. This paper showed that cirrhosis can result in a low IGF-I level in patients with acromegaly. There is no\r\nprevious report available of the in the presence of coincidental combination of acromegaly and cirrhosis in a patient.