Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

DXA Android-to-Gynoid Ratio and Cardiovascular Risk Assessment in Age and BMI Propensity-Matched Early Postmenopausal Women.

: The literature suggests that physiological menopause (MP) seems linked with increased adiposity with a preference for intra-abdominal fat accumulation, greater than what can be attributed only by aging, which could magnify this period's increased cardiovascular risk. : We retrospectively analyzed two age and body mass index (BMI) propensity-matched subgroups each formed of 90 clinically healthy, 40-60-year-old postmenopausal women, within the first 5 and 5-10 years of MP. The 10-year ASCVD risk was assessed using medical history, anthropometric data, and lipid profile blood tests.

Preconceptional Counseling in Women with Hyperthyroidism.

Preconception evaluation of couples wishing to conceive is an important step toward a healthy pregnancy and it is especially important in people with a chronic condition or at genetic risk. The most common endocrine disorders in women at reproductive age are those involving the thyroid gland and it is well recognized that hyperthyroidism (HT), over-function of the thyroid gland, is associated with risks of maternal, fetal, and neonatal complications. The aim of this paper is to review the latest evidence regarding the components of preconception counseling in women with HT that contemplate a pregnancy.

Uric Acid in Primary Hyperparathyroidism: Assessment of Surgical versus Conservative Approach.

Although suggested in early papers, the association between primary hyperparathyroidism (PHPT) and hyperuricemia is still debated, as is the potential benefit of parathyroidectomy compared to conservative treatment in serum uric acid (SUA) metabolism. Material and Our retrospective study of 125 Caucasian PHPT patients with surgical criteria evaluated between 2017 and 2021 at Elias Emergency and University Hospital, Bucharest, Romania aims to describe the characteristics of hyperuricemia in PHPT patients and to assess the differences in SUA levels between 38 surgically cured and 41 conservatively managed patients. Our hyperuricemic PHPT patients (N=34) had significantly higher levels of calcium (11.

Degraded Bone Microarchitecture in Women with PHPT-Significant Predictor of Fracture Probability.

Introduction: Patients with primary hyperparathyroidism (PHPT) experience bone mineral density (BMD) loss and trabecular bone score (TBS) alteration, which current guidelines recommend assessing. Considering TBS alongside BMD for a 10-year fracture risk assessment (FRAX) may improve PHPT management.

Design: Retrospective, cross-sectional study composed of 49 Caucasian females (62 ± 10.

Preconception Counseling in Patients with Hypothyroidism and/or Thyroid Autoimmunity.

Preconception counseling is an essential tool for preventing adverse pregnancy outcomes associated with thyroid dysfunction. The high prevalence of thyroid disease among women of reproductive age, and the increased risk of adverse pregnancy outcomes associated with thyroid dysfunction, emphasize the necessity for well-established screening and treatment criteria in the preconception period. We therefore conducted a literature review for relevant information on the screening, diagnosis and treatment of subclinical and overt hypothyroidism in women seeking pregnancy.

Lean mass, magnesium, faecal calprotectin and glucocorticoid exposure as risk factors for low bone mineral density in inflammatory bowel disease patients.

Background And Aim: Low bone mineral density (BMD) is a common complication in patients with inflammatory bowel disease (IBD). However, debates are ongoing with regard to the other involved factors, especially in younger patients. This study aimed to evaluate the parameters that contribute to decreased BMD, focusing on premenopausal women and men aged <50 years.

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy in acromegalic patient with severe headache.

A 68-year-old female patient was admitted in our clinic with severe frontal bilateral headache, dizziness, depression and cognitive decline in the context of a previously diagnosed acromegaly. She also had high blood pressure, dyslipidemia, secondary diabetes mellitus. Acromegaly was caused by a growth hormone (GH) secreting-pituitary macroadenoma, so a transsphenoidal surgery was performed.

Serum immunoglobulin G4 levels and Graves' disease phenotype.

Purpose: We investigated, at diagnosis, the relationship between serum immunoglobulin G4 levels and the main characteristics of Graves' disease: hyperthyroidism severity, goiter size, presence of active Graves' ophthalmopathy, antithyroid antibodies status, and titer.

Methods: This prospective study included 80 newly diagnosed Graves' disease patients. The main parameters measured at diagnosis: thyroid-stimulating hormone, free thyroxine, free triiodothyronine, total triiodothyronine, thyroglobulin, antithyroid peroxidase antibodies, anti-thyroglobulin antibodies, thyroid-stimulating hormone receptor antibodies, immunoglobulin G4.

Stunted Growth. Proceedings of the 23rd Aschauer Soiree, Held at Aschauhof, Germany, November 7th 2015.

Twenty-four scientists met at Aschauhof, Altenhof, Germany, to discuss the associations between child growth and development, and nutrition, health, environment and psychology. Meta-analyses of body height, height variability and household inequality, in historic and modern growth studies published since 1794, highlighting the enormously flexible patterns of child and adolescent height and weight increments throughout history which do not only depend on genetics, prenatal development, nutrition, health, and economic circumstances, but reflect social interactions. A Quality of Life in Short Stature Youth Questionnaire was presented to cross-culturally assess health-related quality of life in children.

Overweight and Underweight Prevalence Trends in Children from Romania - Pooled Analysis of Cross-Sectional Studies between 2006 and 2015.

Aim: High-quality national representative data on obesity in Romanian children are needed to shape public health policies. To provide a unified data landscape on national prevalence, trends and other factors associated with underweight, overweight, and obesity in Romanian children aged 6-19 years, across the last decade (2006-2015).

Methods: Using a common protocol, we selected published and unpublished studies that measured Romanian children in schools between 2006 and 2015.

Papillary thyroid carcinoma with anaplastic dedifferentiation in the lymph node metastasis - a rare form of presentation even for a tall cell variant.

Papillary thyroid carcinoma (PTC) is well known as a differentiated thyroid carcinoma with an established treatment protocol and high survival rates. Nevertheless, its tall cell variant (TCV) is more frequent diagnosed with larger tumor size, advanced age and metastasis comparing to other PTC cases, resembling an increased level of aggressiveness attributable to the histological subtype according to recent studies. We present the case of a 60-year-old woman who came for a recently increase of the thyroid and a left laterocervical mass associated with pain and alteration of general status.

Obesity and eating behaviors in school children and adolescents -data from a cross sectional study from Bucharest, Romania.

Background: Epidemiological data on obesity prevalence are scarce in Romanian population. Consequently, the aim of our study was to evaluate the prevalence of obesity and unhealthy behaviors among school children and adolescents from Bucharest, Romania.

Methods: Cross-sectional study, 866 participants (53.

Risk factors associated with hypogonadism in β-thalassemia major patients: predictors for a frequent complication of a rare disease.

Background: β-Thalassemia major (BTM) is a rare disease that challenges clinicians because of the high prevalence of complications despite progress in the development of new therapeutic methods. The aim of this study was to identify clinical and hematological parameters associated with hypogonadism, the most frequent iron overload-related complication found in Romanian patients.

Methods: Patients with BTM were evaluated in the Endocrinology Department of Elias Hospital between February 2004 and December 2013.

Biochemical hyperandrogenism is associated with metabolic syndrome independently of adiposity and insulin resistance in Romanian polycystic ovary syndrome patients.

The aim of the study was to determine whether Romanian polycystic ovary syndrome (PCOS) patients have an increased prevalence of metabolic syndrome (MetS) and to study the involvement of adiposity, insulin resistance and hyperandrogenism in the pathogenesis of MetS in PCOS. A total of 398 PCOS patients and 126 controls were evaluated between January 2006 and December 2012. MetS was defined by National Cholesterol Education Program, Adult Treatment Panel III criteria.

Evaluating spine micro-architectural texture (via TBS) discriminates major osteoporotic fractures from controls both as well as and independent of site matched BMD: the Eastern European TBS study.

The aim of the study was to assess the clinical performance of the model combining areal bone mineral density (aBMD) at spine and microarchitecural texture (TBS) for the detection of the osteoporotic fracture. The Eastern European Study is a multicenter study (Serbia, Bulgaria, Romania and Ukraine) evaluating the role of TBS in routine clinical practice as a complement to aBMD. All scans were acquired on Hologic Discovery and GE Prodigy densitometers in a routine clinical manner.

A European consensus on learning objectives for a core communication curriculum in health care professions.

Objective: To develop learning objectives for a core communication curriculum for all health care professions and to survey the acceptability and suitability of the curriculum for undergraduate European health care education.

Methods: Learning objectives for a Health Professions Core Communication Curriculum (HPCCC) in undergraduate education were developed based on international literature and expert knowledge by an international group of communication experts representing different health care professions. A Delphi process technique was used to gather feedback and to provide a consensus from various health care disciplines within Europe.