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Gonadal failure

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https://www.readbyqxmd.com/read/28719979/prevalence-of-protective-shielding-utilization-for-radiation-dose-reduction-in-adult-patients-undergoing-body-scanning-using-computed-tomography
#1
Shoaib Safiullah, Roshan M Patel, Brittany Uribe, Kyle Spradling, Chandana Lall, Lishi Zhang, Zhamshid Okhunov, Ralph Clayman, Jaime Landman
PURPOSE: Ionizing radiation is implicated in nearly 2% of malignancies in the United States; radiation shields prevent unnecessary radiation exposure during medical imaging. Contemporary radiation shield utilization for adult patients in the United States is poorly defined. Therefore, we evaluated the prevalence of protective shielding utilization in adult patients undergoing computed tomography scans in United States' hospitals. METHODS: An online survey was sent to established radiology departments randomly selected from the 2015 American Hospital Association Guide...
July 18, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28713007/future-fertility-for-individuals-with-differences-of-sex-development-parent-attitudes-and-perspectives-about-decision-making
#2
Emilie K Johnson, Ilina Rosoklija, Angela Shurba, Anthony D'Oro, Elisa J Gordon, Diane Chen, Courtney Finlayson, Jane L Holl
BACKGROUND: Children, adolescents, and young adults (children/youth) with differences/disorders of sex development (DSD) face challenges related to future fertility; this may be due to variations in gonadal development, and, for some, gonadectomy performed to reduce the risk of malignancy. Childhood may be the only time for preservation of biological fertility potential for children/youth who undergo gonadectomy or have early gonadal failure. Fertility-related decision-making for these patients is particularly complicated, due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies...
July 3, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28681255/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation
#3
Sukru Cekic, Halil Saglam, Orhan Gorukmez, Tahsin Yakut, Omer Tarim, Sara S Kilic
PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated...
July 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28680137/sexual-and-reproductive-health-in-rheumatic-disease
#4
REVIEW
Monika Østensen
Family size is reduced among patients with rheumatic diseases. The causes for the low number of children are multifactorial and include impaired sexual function, decreased gonadal function, pregnancy loss, therapy and personal choices. Sexuality contributes to quality of life in patients with rheumatic disease, but is often ignored by health professionals. Both disease-related factors and psychological responses to chronic disease can impair sexual functioning. Toxic effects of anti-inflammatory and immunosuppressive drugs can induce transient or permanent gonadal failure in women and men...
July 6, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28668903/laparoscopically-removed-streak-gonad-revealed-gonadoblastoma-in-frasier-syndrome
#5
Kazunori Hashimoto, Y U Horibe, Jiro Ezaki, Toshiyuki Kanno, Nobuko Takahashi, Yoshika Akizawa, Hideo Matsui, Tomoko Yamamoto, Noriyuki Shibata
BACKGROUND: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma. CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis...
July 2017: Anticancer Research
https://www.readbyqxmd.com/read/28648844/novel-functions-for-the-rna-binding-protein-etr-1-in-caenorhabditis-elegans-reproduction-and-engulfment-of-germline-apoptotic-cell-corpses
#6
Ruby Boateng, Ken C Q Nguyen, David H Hall, Andy Golden, Anna K Allen
RNA-binding proteins (RBPs) are essential regulators of gene expression that act through a variety of mechanisms to ensure the proper post-transcriptional regulation of their target RNAs. RBPs in multiple species have been identified as playing crucial roles during development and as having important functions in various adult organ systems, including the heart, nervous, muscle, and reproductive systems. ETR-1, a highly conserved ELAV-Type RNA-binding protein belonging to the CELF/Bruno protein family, has been previously reported to be involved in C...
June 22, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28600501/hatching-enzymes-disrupt-aberrant-gonadal-degeneration-by-the-autophagy-apoptosis-cell-fate-decision
#7
Tapas Chakraborty, Sipra Mohapatra, Megumi Tobayama, Kayoko Ohta, Yong-Woon Ryu, Yukinori Kazeto, Kohei Ohta, Linyan Zhou, Yoshitaka Nagahama, Takahiro Matsubara
Environmental stressors, gonadal degenerative diseases and tumour development can significantly alter the oocyte physiology, and species fertility and fitness. To expand the molecular understanding about oocyte degradation, we isolated several spliced variants of Japanese anchovy hatching enzymes (AcHEs; ovastacin homologue) 1 and 2, and analysed their potential in oocyte sustenance. Particularly, AcHE1b, an ovary-specific, steroid-regulated, methylation-dependent, stress-responsive isoform, was neofunctionalized to regulate autophagic oocyte degeneration...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28588768/ovarian-function-following-targeted-anti-angiogenic-therapy-with-bevacizumab
#8
Atsushi Imai, Satoshi Ichigo, Kazutoshi Matsunami, Hiroshi Takagi, Ichiro Kawabata
Improvements in cancer therapy have enabled further insight into the long-term effects of treatment, including the highly prevalent gonadal failure. The focus of treatment has been shifted to the preservation of fertility, which may be achieved by preventing ovarian toxicity. To this end, new molecular-targeted agents, including monoclonal antibodies, have been developed and used in a standard procedure for managing different cancers. However, the prolonged antitumor activity of these drugs may cause the emergence of new toxic effects...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28576390/genetic-basis-of-eugonadal-and-hypogonadal-female-reproductive-disorders
#9
REVIEW
Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen-Hao Chen, Ricardo Azziz, Lawrence C Layman
This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes...
May 9, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28561655/fertility-cardiac-and-orthopedic-challenges-in-survivors-of-adult-and-childhood-sarcoma
#10
Emma R Lipshultz, Ginger E Holt, Ranjith Ramasamy, Raphael Yechieli, Steven E Lipshultz
The combination of cisplatin, doxorubicin, and methotrexate was established as the standard backbone of contemporary osteosarcoma therapy in 1986. Since then, however, further improving the survival of patients with osteosarcoma has been challenging-30% to 40% of patients with osteosarcoma still die of this disease. In addition, these patients often experience loss of fertility at a young age, short- and long-term treatment-related cardiotoxicity, and adverse orthopedic effects from surgical resection of the tumor or endoprosthetic reconstructions...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28493439/very-late-presentation-of-a-disorder-of-sex-development
#11
J M Martins, M Fraga, J Miguens, F Tortosa, B Marques, A D Sousa
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications...
May 11, 2017: Andrologia
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#12
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28424461/a-lack-of-coordination-between-sister-chromatids-segregation-and-cytokinesis-in-the-oocytes-of-b6-y-tir-xy-sex-reversed-female-mice
#13
Jia-Qiao Zhu, Seang Lin Tan, Teruko Taketo
The B6.Y(TIR) (XY) mouse develops bilateral ovaries despite the expression of the testis-determining gene Sry during gonadal differentiation. We reported that the oocytes of the XY female are defective in their cytoplasm, resulting in a failure in the second meiotic division after activation or fertilization in vitro. However, the mechanism of meiotic failure or the cause of infertility remained to be clarified. In the present study, we obtained mature oocytes from XY females by superovulation and confirmed that these oocytes also fail in zygotic development...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28416458/on-the-origins-of-sex-based-differences-in-respiratory-disorders-lessons-and-hypotheses-from-stress-neuroendocrinology-in-developing-rats
#14
REVIEW
Jean-Philippe Rousseau, Luana Tenorio-Lopes, Cécile Baldy, Tara Adele Janes, Stéphanie Fournier, Richard Kinkead
The environment plays a critical role in shaping development and function of the brain. Stress, especially when experienced early in life, can interfere with these processes. In the context of respiratory control, perinatal stress can therefore alter the ability to achieve the "fine-tuning" necessary for proper detection of chemosensory stimuli and production of an adequate motor (respiratory) command. Depending on the timing, intensity, and duration, the detrimental consequences of perinatal exposure to adverse conditions on the respiratory network become manifest at various life stages and can persist into adulthood...
April 14, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28398024/gonadotropin-releasing-hormone-analogues-for-the-prevention-of-chemotherapy-induced-premature-ovarian-failure-in-breast-cancer-patients
#15
Benedetta Conte, Lucia Del Mastro
Since the survival of patients with cancer has significantly improved, chemotherapy-related premature ovarian failure (POF) in young cancer survivors has become a major issue in oncology. POF is associated with several health-related negative consequences, including menopausal symptoms, increased risk of cardiovascular diseases, osteoporosis, sexual disfunction, and infertility1-5. According to the major international guidelines, embryo/oocyte cryopreservation are the standard procedures for fertility preservation in young cancer women6,7...
April 10, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28395560/fertility-preservation-in-women-with-cns-tumors
#16
REVIEW
Alicia Tosoni, Damiano Balestrini, Alba A Brandes
Fertility impairment due to treatments is a major concern for adolescents and young adult patients who survived cancer. Areas covered: Chemotherapy may determine a detrimental effect on ovary function, leading to infertility, and premature ovarian failure. Embryo and oocyte cryopreservation is a standard strategy for fertility preservation; other strategies, such as gonadal tissue cryopreservation and the use of gonadotropin - releasing hormone agonist, are still considered experimental. There are few data available regarding the effect of pregnancy on glioma, which indicates tumor progression during pregnancy in 33-45% of patients...
May 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#17
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28342855/regulation-of-reproduction-via-tight-control-of-gonadotropin-hormone-levels
#18
Djurdjica Coss
Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH levels exhibit rhythmic changes throughout the menstrual or estrous cycle that are correlated with pulse frequency of GnRH. Lack of gonadotropins leads to infertility or amenorrhea. Dysfunctions in the tightly controlled ratio due to levels slightly outside the normal range occur in a larger number of women and are correlated with polycystic ovaries and premature ovarian failure...
March 22, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28333032/ethical-moral-and-other-aspects-related-to-fertility-preservation-in-cancer-patients
#19
Bruno Ramalho de Carvalho, Jhenifer Kliemchen, Teresa K Woodruff
Post-treatment fertility emerges as an important issue in the early counseling of individuals with cancer, since survivors may have their quality of life affected by the occurrence of functional failure of the gonads because of antineoplastic therapies. In the context, oncofertility has been developed as an interdisciplinary field of study that combines expertise in reproductive medicine and oncology, to provide strategies aiming to maintain the possibility of future procreation. Today, we have many options and techniques available for the preservation of gametes in men and women...
February 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#20
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
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