ACTA ENDOCRINOLOGICA (BUC)

McCune Albright syndrome (MAS) is a rare disease due to a sporadic mutation in Gs protein inducing polyostotic fibrous\r\ndysplasia, pigmented skin patches and hyper functioning endocrinopathies. We aimed to report its association with a hot thyroid nodule and gigantism.\r\nCase report. A man aged 37, with a history of pigmented skin lesions and lameness was referred for acromegaly. He was giant (height = 1.94 m/ target stature = 1.68 m), and had ?caf? au lait? spots. Biological analyses argued for pituitary mixed secretion (random growth hormone = 22 ng/ mL, N<5; prolactin = 27 ng/mL, N<10). Brain CT scan showed a pituitary process of 11x10 mm. Thyroid radioiodine scan revealed a hot nodule. Bone x-ray demonstrated large osteolytic lesions in the right femur and pelvis. He was operated on for endocrine tumours. The thyroid nodule\r\nwas benign and immunohistochemistry pituitary was positive for GH, prolactin and &#945; subunit.\r\nConclusion. Somatolactotrop adenoma causing gigantism associated with MAS is exceptional. It should be known, diagnosed, and treated early to avoid bone deformations\r\nand malignant transformation of osseous lesions under GH and/or IGF1 excess. One should also know that radiotherapy for the pituitary process is contraindicated, because of higher risk of sarcomatous transformation.

Intracranial germ cell tumors (GCT) are rare brain tumors that typically arise in the pineal or suprasellar regions. Germinomas are highly radiosensitive among pediatric CNS tumors. Suprasellar GCTs most commonly present with hypothalamic/ pituitary dysfunctions. We report a case of an 18 year old boy with particularly long term evolution from the onset of symptoms to the positive diagnosis of suprasellar germinoma. At 9 years he was diagnosed with idiopathic central diabetes insipidus and started DDAVP therapy. In the subsequent years he presented delay in longitudinal growth and delayed pubertal development. At 16 years he was referred to our institute with relatively good general condition despite an extremely severe hypernatremia of 186 mEq/L, serum osmolality of 405 mOsm/kg and impaired thirst sensation. He developed sinus thrombosis as a consequence of hyperosmolality and presented intermittent rises of temperature, but no septic episodes. During a long term follow neuroimaging eventually revealed a thickening of the pituitary stalk, mimicking as an infiltrative lesion. Finally, two supracentimetric tumor nodules were shown on contrast enhanced MRI in the suprasellar region and at the floor of the left lateral ventricle. Stereotactic biopsy concluded a pure germinoma, and craniospinal irradiation was performed. At present he has an infracentimetric suprasellar tumor remnant, reperfused sinus veins, optochiasmatic syndrome sequelae. He benefits from L-Thyroxin and testosterone replacement, and maintains hydro-electrolytic balance on DDAVP and controlled oral fluid intake.

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Chronic heart failure (CHF) and obesity are two conditions frequently associated and which, despite all the advances made in their management in the recent years, their prevalence continues to rise. Obese patients present unique challenges in the diagnosis of CHF and also therapeutic particularities. The genetic differences may be a possible explanation for the fact that some people, irrespective of their lifestyle and common classical cardiovascular risk factors, are more susceptible to develop heart failure. Moreover, the adipose tissue, a huge endocrine organ which secretes adipokines, is also a well-established source of all renin-angiotensin-aldosterone system components, being strongly involved in the pathogenesis of CHF. That is why this review will explore the possible links between the RAS genetic polymorphisms and leptin secretion in obese HF patients, trying to bring a more precise understanding of this relationship, which will undoubtedly facilitate a more appropriate treatment of HF in obese patients. We also try to explain the possible incriminated mechanisms, and plausible biological explanations for the relationship between RAS genetic polymorphisms and adipokines secretion in obese heart failure patients.

Context. Many negative effects of stress regarding cognitive performances and gastrointestinal habits were previously reported in both animal models and human participants. Objective. We aimed to compare perceived stress levels with declared gastrointestinal habits changes in a small cohort of college students during academic acquisition and evaluation periods. Design. College students were recruited and divided into two groups: the control group evaluated during the acquisition period of the academic year and the stressed group evaluated during the examination period. Subject and Methods. The students’ psychological and gastrointestinal status was evaluated using a common stress questionnaire and a gastrointestinal habits survey. Results. Our results showed increased perceived stress in college students during stressful conditions, as compared to lesser demanding periods. Similarly, more than 40%of the participants declared that gastrointestinal habits changes occurred during stressful periods. We observed significant correlations between the perceived stress levels and gastrointestinal habits changes. Conclusion. This small-sized survey study showed that the occurrence of the stressful event in young adults recorded higher perceived stress scores and frequent functional gastrointestinal symptoms, as compared to the lower stressful periods. Also, we showed that functional gastrointestinal symptoms are rather common and could be regarded as a negative response to stress.

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune polymorphous disease that primarily affects women of reproductive age. This gender disparity has suggested the importance of investigating the role of reproductive hormones in the pathogenesis of the disease. Estradiol, the most potent form of estrogen, plays a key role in shaping the immune system including the production of lymphocytes, the peripheral differentiation of regulatory T cells (T-regs), antibody production, and the complement and interferon systems, and has been studied in the pathogenesis of systemic lupus erythematosus (SLE). It operates by binding to estrogen receptors (ERs) α and β, initiating cellular responses including alterations in gene expression. Regulatory T cells are instrumental in preserving immunological self-tolerance and moderating immune responses. Estradiol’s serum levels correlate with the expansion of CD4+CD25+ and FoxP3+ in healthy females. However, this response is reduced in lupus patients. Estradiol also interacts with microRNAs (miRNAs) in gene regulation. Hsa-miR-10b-5p, a miRNA targeting SRSF1, is overexpressed in SLE patients and its levels increase with exposure to estrogens. Other miRNAs also show correlation with plasma Estradiol levels. The precise role of Estradiol in the pathogenesis of SLE remains complex and multifaceted and is a topic for further research.

Background. Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients. Objectives. To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS. Case report. We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics. Conclusions. This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.

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Context. Exenatide is a Glucagon-like Peptide-1 receptor agonist, which is widely used for type 2 diabetes mellitus (T2DM). Limited and conflicting results are present about the effect of exenatide on the thyroid gland. Objective. The aim of this study was to evaluate the effect of exenatide treatment on structural and functional features of the thyroid gland in patients with T2DM. Design. The study was a prospective study, performed between 2015 and 2017. The laboratory values and thyroid ultrasonography features were compared before and after exenatide treatment. Subjects and Methods. The study included 39 obese diabetic patients. After inclusion to the study exenatide was started and patients were followed up for 6 months. Total thyroid volume, thyroid function tests, serum carcinoembryonic antigen (CEA) and calcitonin levels, the size and appearance of thyroid nodules were compared between baseline and after 6 months of treatment. Results. Exenatide at a dose of 5μg bid was started, increased to 10 μg bid after 4 weeks. We found a statistically significant decrease in thyroid volume (p=0.043) and serum thyroid stimulating hormone (TSH) levels (p=0.007), whereas serum ATPO. ATGl, fT4, fT3, CEA and calcitonin levels did no change with 6 months of exenatide treatment. There were no significant differences in the size and appearance of the thyroid nodules with treatment. The thyroid volume decrease was not correlated with TSH, body mass index and HbA1c reduction. Conclusion. Exenatide treatment for 6 months decreased serum TSH levels and thyroid volume, but had no effect on thyroid nodules and serum CEA and calcitonin levels.

Context. Suicide is a global public health issue. Bipolar disorder (BPD) has the highest suicide risk among individuals suffering from mental disorders. Serotoninergic dysfunctions have been linked to suicidal behaviour and platelet serotonin is recognised as a reliable index for the presynaptic serotonin activity. Objective. Our aim was to assess whether alterations occur in platelet serotonin concentrations in BPD type I in respect to suicide attempters compared with nonattempters. Design. This was a cross-sectional, observational study. Subjects and Methods. Plasma platelet serotonin concentrations were measured using ELISA technique in 71 BPD I patients. The participants were assigned into 3 groups (non-attempters, low lethality and high lethality suicide attempters), according to the Columbia-Suicide Severity Rating Scale. Socio-demographical and clinical data was obtained by using MINI 6.0 and a semi-structured questionnaire designed specifically for this research. Results. Our study showed significant lower levels of platelet serotonin in suicide attempters compared with non-attempters (p = 0.030) and in high-lethality attempters compared with low-lethality attempters (p = 0.015). The study recorded a higher number of total lifetime and lifetime depressive episodes for suicide attempters with BPD I. Conclusions. Our results subscribe to the importance of platelet serotonin as a reliable biomarker in suicide risk assessment.