ACTA ENDOCRINOLOGICA (BUC)

Objective. To investigate the correlation between serum levels of 25-hydroxy vitamin D [25(OH)D] and the visceral fat area of patients with type 2 diabetes mellitus (T2DM) in the context of different bone mass. Materials and Methods. A total of 180 patients with T2DM were randomly selected for bone mineral density (BMD) examination. According to the results, they were divided into three groups: T2DM normal bone group (group A); T2DM bone mass reduction group (group B); T2DM osteoporosis group (group C). Result. Serum 25(OH)D levels in NC group, A group, B group and C group decreased in turn, and Visceral fat area (VFA) in group B and group C were significantly higher than those in group A and NC [(29.41±4.87) vs. (22.76±4.23) vs. (17.78±3.61) vs. (9.70±3.01), P<0.05], [(117.76±38.79), (125.08±37.90) vs. (89.79±26.51), (97.53±28.61), P<0.05]. Pearson correlation analysis showed that L1-L4 lumbar vertebrae bone density was positively correlated with 25(OH)D and VFA; left femoral neck bone density was positively correlated with 25(OH)D, and negatively correlated with VFA. Conclusion. Serum 25(OH)D and VFA may be associated with the development of T2DM combined with OP.

This editorial discusses the context of thediscovery of GNRH 1 as a cause of congenital hypogonadotropic hypogonadism published last year by Bouligand et al in the New England Journal of Medicine

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 &#8221;the tumor must not be fed&#8221;. 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.

Noonan syndrome is an autosomal dominant, variably expressed, developmental disorder with unilateral or bilateral cryptorchidism in up to 80% of boys and usually delayed puberty. Thus, precocious puberty is unexpected and intriguing in such a patient. A 4.6 year old boy was found to have pubic hair, penile enlargement, increased height velocity, with advanced bone age, bilateral cryptorchidism, dysmorphic facial features typical for Noonan syndrome, pectus deformity, brachydactyly, clinodactyly, camptodactyly, hyperpigmentation, acne and hypertrichosis. Hormonal assessment revealed 21-hydroxylase deficiency - more than 100 fold increase of 17 hydroxyprogesterone level, normal hCG, estradiol, FSH, LH. This previously unreported association of Noonan syndrome and congenital adrenal hyperplasia is challenging regarding diagnosis and management.

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

Background. The aim of this experimental study was to examine the effect of erythropoietin (Epo) on rat model and particularly in an ischemia-reperfusion (IR) protocol. The beneficial effect or non-effectiveness of that molecule were studied haematologically using blood mean corpuscular hemoglobin levels (MCH). Materials and methods. Forty rats of mean weight 247.7 g were used in the study. MCH levels were measured at these time points: on 60 min after reperfusion (groups A and C), and on 120 min after reperfusion (groups B and D). C and D groups were administered by Epo. Results. Epo administration nonsignificantly increased the MCH levels by 0.19 pg [-0.34 pg - 0.72 pg] (P= 0.4762). This finding was in accordance with the results of paired t-test (P= 0.3827). Reperfusion time non-significantly increased the MCH levels by 0.02 pg [-0.51 pg - 0.55 pg] (P= 0.9404), also in accordance with paired t-test (P= 0.9049). However, Epo administration and reperfusion time together produced a nonsignificant combined effect in decreasing the MCH levels by 0.13 pg [-0.18 pg - 0.45 pg] (P= 0.4087). Conclusion. Results of this study indicate that Epo administration, even in short-term prospect of 2 hours reperfusion, starts reversing ischemic damages. These results are also reinforced by predicted MCH values adjusted for weight. However, the significant effect needs more than 2 hours in order to appear.

No inheritance of early-onset female-related type 2 diabetes was reported within Chinese families. In this study, we aim to describe the inheritance pattern of type 2 diabetes in a 3-generation family and identify the gene responsible for type 2 diabetes. Genome-wide multipoint parametric linkage analysis revealed a maximum multipoint logarithm of odds (lod) score of 2.1 for a locus being associated with type 2 diabetes in this family on chromosome 20p11.2-12 between 23.5~30.8cM. Type 2 diabetes may be transmitted as an autosomal dominant trait with a high female-related penetrance in this family. Here we describe the first genetic locus for type 2 diabetes at chromosome 20p11.2-12. This region contains 8 known or predicted genes (PLCB1, PLCB4, LAMP5, PAK7, ANKEF1, SNAP25, SLX4IP, and JAG1). Gene SNAP25 which linked to energy or glucose homeostasis associated phenotypes may play a role in the development of type 2 diabetes in this family.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol &#8211;7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.

Background. Thyroid nodules are common; however, the association of two or more different tumors in the thyroid gland is unusual. We present a first case with the association of three histological types of thryroid tumors. To the best of our knowledge, this association has not been reported in the literature before. We aim here to highlight the possible coexistence of many lesions in the thyroid gland and to discuss treatment options. Case presentation. We report the case of a female patient who presented with a multinodular goiter. The final pathology after total thyroidectomy found the association of a multifocal papillary thyroid microcarcinoma arising within a Hurthle cells adenoma in a lobe and a noninvasive follicular thyroid neoplasm with papillary nuclear features in the other lobe. Due to the very low risk of recurrence, the patient was not treated with radioactive iodine. Conclusions. Many controversies remain about the management of Hurthle cells tumors and many variants of papillary thyroid carcinoma. Although the management of our case did not change, more studies are necessary to analyze the evolution of patients with multiple thyroid neoplasms. When discussing therapeutic options, the advantages and disadvantages should be considered case by case based on disease staging.

Introduction. Graves’ disease (GD) and concomitant thyroid nodules can be found in up to 44% of all cases, of which up to 17% are determined as malignant tumors. Medullary thyroid carcinoma (MTC) seems to be found extremely rarely, which causes belated diagnosis. Case presentation. A 50-year-old man was diagnosed with GD. Neck ultrasound revealed suspicious thyroid nodule, a fine needle aspiration biopsy was performed, and it revealed microfollicular hyperplasia, Bethesda IV. The patient was operated on and the histological examination confirmed MTC. Genetic testing revealed the sporadic form of MTC. Six weeks after the initial surgery, elevated tumor markers confirmed the persistence of the disease. The patient underwent a pyramidal lobe removal with a unilateral central compartment lymph node dissection. Histological analysis confirmed typical changes of MTC and a spread of the disease. 2 months after the lymphadenectomy, tumor markers and imaging examination revealed suspicious lymph nodes; this discovery was followed by a bilateral lymph nodes dissection and persistence of MTC confirmation. Conclusion. An early detection of sporadic MTC with concomitant GD is challenging. We want to emphasize the benefits of calcitonin (Ctn) measurement in the blood sample and a Ctn immunocytochemistry detection in the case of an autoimmune thyroid disease and suspicious thyroid nodule before the radical treatment, despite the lack of universal recommendations for routine Ctn measurement, in order to reach an earlier diagnosis of the cancer, and to perform a more radical surgical treatment.