- Are hypothyroidism and hypogonadism clinically relevant in patients with malignant gliomas? A longitudinal trial in patients with glioma. [Journal Article]
- RORadiother Oncol 2018 Oct 30
- CONCLUSIONS: The results of this study show that a significant percentage of patients with malignant gliomas develop hormonal deficiencies mandating regular clinical follow up, state of the art counseling and if clinically necessary substitution therapy.
- Variable workup calls for guideline development for type 2A hereditary haemochromatosis. [Journal Article]
- NJNeth J Med 2018; 76(8):365-373
- CONCLUSIONS: Three genetic variants caused type 2A HH in six families. Clinical diagnosis was delayed in two subjects. We observed variance in presentation, workup, follow-up and treatment. We found new complications in long-term iron-depleted patients. We recommend research and guidelines for optimal workup, follow-up and treatment of type 2A HH.
- Chronic estradiol exposure – harmful effects on behavior, cardiovascular and reproductive functions [Journal Article]
- RReproduction 2018 Sep 17
- Estradiol (E2) is a female hormone that is produced largely by the ovaries, but also by the adrenal glands, fat and liver. It is present in the circulation of both males and females. Many studies in ...
Estradiol (E2) is a female hormone that is produced largely by the ovaries, but also by the adrenal glands, fat and liver. It is present in the circulation of both males and females. Many studies in the literature have described how E2 is beneficial to the body in terms of preventing bone loss, affording protection in ischemia reperfusion injury, relieving symptoms of menopause, maintaining vaginal health and helping with ovarian failure or hypogonadism. Beneficial effects on the brain have been reported to include protection against memory loss, neuronal degeneration, changes in cognition, mood and behavior. However, the effects of E2 exposure on the neuroendocrine system have not been understood completely. This is because differences in doses, preparation and duration of exposure have produced variable results ranging from beneficial, to no change, or to detrimental. Studies in our lab over the last few years have shown that chronic exposures to low levels of E2 in young rats can produce specific effects on the neuroendocrine system. We have observed that these exposures can induce reproductive senescence, hypertension, anxiety-like behavior and cause degenerative changes in specific neuronal populations leading to hyperprolactinemia. The purpose of the review is to present evidence from the literature for these effects and to discuss the underlying molecular mechanisms.
- Essential Role of BRCA2 in Ovarian Development and Function. [Case Reports]
- NEJMN Engl J Med 2018 09 13; 379(11):1042-1049
- The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 ...
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the failure of RAD51 to be recruited to double-stranded DNA breaks. The sisters also had microcephaly, and one sister was in long-term remission from leukemia, which had been diagnosed when she was 5 years old. Drosophila mutants that were null for an orthologue of BRCA2 were sterile, and gonadal dysgenesis was present in both sexes. These results revealed a new role for BRCA2 and highlight the importance to ovarian development of genes that are critical for recombination during meiosis. (Funded by the Israel Science Foundation and others.).
- Severe iodine deficiency from dietary restriction and subsequent iodine excess from seaweed snack overuse in an adolescent with disordered eating. [Case Reports]
- IJInt J Eat Disord 2018 Sep 06
- Individuals with disordered eating commonly exclude salt and animal products from their diets, which may predispose them to iodine deficiency even without significant weight loss. Overconsumption of ...
Individuals with disordered eating commonly exclude salt and animal products from their diets, which may predispose them to iodine deficiency even without significant weight loss. Overconsumption of dietary supplements and "natural" foods are also commonly observed among eating disorder patients. This report describes an adolescent female with disordered eating presenting with growth and pubertal delay, found to have severe iodine deficiency (urine iodine of 18 mcg/L) and abnormal thyroid function resulting from strict avoidance of salt and animal products despite adequate caloric intake. To avoid having to start eating animal products, she began consuming excessive quantities of seaweed supplements to increase her iodine intake resulting in excessive iodine levels (urine iodine of >1,500 mcg/L) and worsening of thyroid function. When her parents began supervising her nutritional intake, her abnormal iodine levels, abnormal thyroid function tests, and hypogonadotropic hypogonadism all resolved. This is the first report of both iodine deficiency and iodine excess developing from disordered eating behavior.
- Exploratory data analysis of a clinical study group: Development of a procedure for exploring multidimensional data. [Journal Article]
- PlosPLoS One 2018; 13(8):e0201950
- Thorough knowledge of the structure of analyzed data allows to form detailed scientific hypotheses and research questions. The structure of data can be revealed with methods for exploratory data anal...
Thorough knowledge of the structure of analyzed data allows to form detailed scientific hypotheses and research questions. The structure of data can be revealed with methods for exploratory data analysis. Due to multitude of available methods, selecting those which will work together well and facilitate data interpretation is not an easy task. In this work we present a well fitted set of tools for a complete exploratory analysis of a clinical dataset and perform a case study analysis on a set of 515 patients. The proposed procedure comprises several steps: 1) robust data normalization, 2) outlier detection with Mahalanobis (MD) and robust Mahalanobis distances (rMD), 3) hierarchical clustering with Ward's algorithm, 4) Principal Component Analysis with biplot vectors. The analyzed set comprised elderly patients that participated in the PolSenior project. Each patient was characterized by over 40 biochemical and socio-geographical attributes. Introductory analysis showed that the case-study dataset comprises two clusters separated along the axis of sex hormone attributes. Further analysis was carried out separately for male and female patients. The most optimal partitioning in the male set resulted in five subgroups. Two of them were related to diseased patients: 1) diabetes and 2) hypogonadism patients. Analysis of the female set suggested that it was more homogeneous than the male dataset. No evidence of pathological patient subgroups was found. In the study we showed that outlier detection with MD and rMD allows not only to identify outliers, but can also assess the heterogeneity of a dataset. The case study proved that our procedure is well suited for identification and visualization of biologically meaningful patient subgroups.
- Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans. [Journal Article]
- JCJ Clin Endocrinol Metab 2018 Dec 01; 103(12):4482-4490
- CONCLUSIONS: GnRH pulsatile therapy can induce an LH surge in a woman with a mutated KISS1R, which was previously thought to be completely inactivated in vivo.
- The H Syndrome: A Genodermatosis. [Journal Article]
- CCureus 2018 Jun 08; 10(6):e2763
- H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), ...
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome.
- Male and Female Hypogonadism. [Review]
- NCNurs Clin North Am 2018; 53(3):395-405
- Hypogonadism is a clinical syndrome that results in hormone deficiency in men and women. Primary hypogonadism is caused by gonadal (testicular or ovarian) failure. Secondary hypogonadism is the resul...
Hypogonadism is a clinical syndrome that results in hormone deficiency in men and women. Primary hypogonadism is caused by gonadal (testicular or ovarian) failure. Secondary hypogonadism is the result of a dysfunction within the hypothalamus and/or pituitary. Diagnosis of hypogonadism requires a comprehensive health history, evaluation of the signs and symptoms, complete physical examination, as well as laboratory and diagnostic testing for both sexes. Hormone replacement is the hallmark of hypogonadism treatment. Restoring and/or maintaining quality of life is a major consideration in the management of patients with hypogonadism.
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- Evaluation of Sexual Function in Women with Hypogonadotropic Hypogonadism Using the Female Sexual Function Index (FSFI) and the Beck Depression Inventory (BDI). [Journal Article]
- MSMed Sci Monit 2018 Aug 12; 24:5610-5618
- CONCLUSIONS: Women with HH require both physical and psychological support to improve their sexual function, self-esteem, mental health, and quality of life.