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Gonadal failure

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https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#1
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...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28342855/regulation-of-reproduction-via-tight-control-of-gonadotropin-hormone-levels
#2
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
#3
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
#4
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, 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...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323958/jmjd3-is-crucial-for-female-avpv-rip-cre-neuron-controlled-kisspeptin-estrogen-feedback-loop-and-reproductive-function
#5
Anying Song, Shujun Jiang, Qinghua Wang, Jianghuan Zou, Zhaoyu Lin, Xiang Gao
The hypothalamic-pituitary-gonadal axis controls development, reproduction, and metabolism. While most studies were focusing on the hierarch from brain to gonad, many questions remain unresolved concerning the feedback from gonad to the central nervous system, especially on the potential epigenetic modification in hypothalamic neurons. In this report, we generated genetically modified mice lacking histone H3 lysine 27 demethylase JMJD3 in hypothalamic RIP-Cre neurons. The female mutant mice display late-onset obesity due to reduced locomotor activity and decreased energy expenditure...
March 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28293402/treosulfan-based-conditioning-regimen-in-sibling-and-alternative-donor-hematopoietic-stem-cell-transplantation-for-children-with-sickle-cell-disease
#6
Antonio Marzollo, Elisabetta Calore, Manuela Tumino, Marta Pillon, Maria Vittoria Gazzola, Roberta Destro, Raffaella Colombatti, Piero Marson, Tiziana Tison, Anna Colpo, Chiara Mainardi, Maria Gabelli, Maria Paola Boaro, Sara Rossin, Aurora Strano, Nadia Quaglia, Federica Menzato, Giuseppe Basso, Laura Sainati, Chiara Messina
BACKGROUND AND OBJECTIVES: Lack of suitable donors and regimen related toxicity are major barriers for hematopoietic stem cell transplantation (HSCT) in patients with sickle cell disease (SCD). The aim of the study is the assessment of efficacy and toxicity of Treosulfan-based conditioning regimen for SCD also when alternative donors such as mismatched unrelated donor and haploidentical donor are employed. METHODS: We report our single-center experience: 11 patients with SCD received HSCT with a Treosulfan/Thiotepa/Fludarabine/Anti-thymoglobulin conditioning regimen between 2010 and 2015...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28281721/incidence-of-variations-in-human-cadaveric-renal-vessels
#7
Sherif S Hassan, Ehab Abdel Aziz El-Shaarawy, Jane C Johnson, Magdy F Youakim, Rajunor Ettarh
BACKGROUND: Awareness of discrepancies of renal vasculature is crucial for some medical procedures. The present study investigated origin and course of aberrant and accessory renal vessels and any associated variations. MATERIALS AND METHODS: Renal blood vessels of 63 cadavers were examined. Number of renal veins and arteries, arrangement, location where the vasculature attached to the kidneys, and presence of variations were recorded. Incidence of renal vasculature variations was determined, and associations were tested with age at death, sex, and cause of death and whether variations were more common on a specific side...
March 10, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#8
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28224044/mastl-is-essential-for-anaphase-entry-of-proliferating-primordial-germ-cells-and-establishment-of-female-germ-cells-in-mice
#9
Sanjiv Risal, Jingjing Zhang, Deepak Adhikari, Xiaoman Liu, Jingchen Shao, Mengwen Hu, Kiran Busayavalasa, Zhaowei Tu, Zijiang Chen, Philipp Kaldis, Kui Liu
In mammals, primordial germ cells (PGCs) are the embryonic cell population that serve as germ cell precursors in both females and males. During mouse embryonic development, the majority of PGCs are arrested at the G2 phase when they migrate into the hindgut at 7.75-8.75 dpc (days post coitum). It is after 9.5 dpc that the PGCs undergo proliferation with a doubling time of 12.6 h. The molecular mechanisms underlying PGC proliferation are however not well studied. In this work. Here we studied how MASTL (microtubule-associated serine/threonine kinase-like)/Greatwall kinase regulates the rapid proliferation of PGCs...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28222406/leydig-cell-clustering-and-reinke-crystal-distribution-in-relation-to-hormonal-function-in-adult-patients-with-testicular-dysgenesis-syndrome-tds-including-cryptorchidism
#10
Rikke R Soerensen, Trine H Johannsen, Niels E Skakkebaek, Ewa Rajpert-De Meyts
OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micronodules) are frequently present. This study aimed to investigate possible associations of LC micronodules with the presence of Reinke crystals and hormonal function of LCs, the latter primarily reflected by serum concentrations of luteinising hormone (LH) and testosterone, in patients with TDS...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28212592/novel-insights-into-gonadotropin-releasing-hormone-action-in-the-pituitary-gonadotrope
#11
Jessica L Brown, Mark Roberson
The hypothalamic-pituitary-gonadal axis controls reproduction via a series of hormones regulating gonadal function through interconnected feedback loops. Secretion of hypothalamic-derived gonadotropin-releasing hormone (GnRH) integrates inputs from higher brain centers to coordinate the activity of the pituitary gonadotrope and the biosynthesis and secretion of the gonadotropins which ultimately regulate gonadal function. Failure of GnRH to serve as the central integrator of this system has been associated with hypogonadotropic-hypogonadism and clinical infertility, while pharmacological application of GnRH analogs and gonadotropins have important implications of the treatment of such infertility...
March 2017: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/28193729/sequential-divergent-and-cooperative-requirements-of-foxl2a-and-foxl2b-in-ovary-development-and-maintenance-of-zebrafish
#12
Yan-Jing Yang, Yang Wang, Zhi Li, Li Zhou, Jian-Fang Gui
Foxl2 is essential for mammalian ovary maintenance. Although sexually dimorphic expression of foxl2 was observed in many teleost, its role and regulative mechanism in fish remained largely unclear. In this study, we first identified two transcript variants of foxl2a and its homologous gene foxl2b in zebrafish, and revealed their specific expression in follicular layer cells in a sequential and divergent fashion during ovary differentiation, maturation and maintenance. Then, homozygous foxl2a mutants (foxl2a(-/-)) and foxl2b mutants (foxl2b(-/-)) were constructed, and detailed comparisons, such as sex ratio, gonadal histological structure, transcriptome profiling and dynamic expression of gonadal development-related genes, were carried out...
February 13, 2017: Genetics
https://www.readbyqxmd.com/read/28178580/dual-hormone-stress-reactivity-predicts-downstream-war-zone-stress-evoked-ptsd
#13
Robert A Josephs, Adam R Cobb, Cynthia L Lancaster, Han-Joo Lee, Michael J Telch
BACKGROUND: The crucial role of the hypothalamic-pituitary-adrenal axis (HPA) in stress-related homeostasis suggests dysregulated HPA involvement in the pathogenesis of post-traumatic stress disorder (PTSD), yet most studies examining linkages between HPA axis measures and PTSD have yielded null findings. One untested explanation for this inconsistency is a failure to account for simultaneous adrenal and gonadal influence. Here we tested the singular and interactive effects of cortisol (CR) and testosterone (TR) reactivity as moderators of war-zone stress evoked PTSD emergence in the war-zone...
January 19, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28161937/gonadal-and-sexual-dysfunction-in-childhood-cancer-survivors
#14
Ju Young Yoon, Hyeon Jin Park, Hee Young Ju, Jong Hyung Yoon, Jin Soo Chung, Sang Hyun Hwang, Dong Ock Lee, Hye Young Shim, Byung-Kiu Park
Purpose: Few studies have addressed gonadal and sexual dysfunctions in childhood cancer survivors. We evaluated the prevalence rates and risk factors for gonadal failure among adolescent/young adult childhood cancer survivors and their sexual function. Materials and Methods: Subjects were childhood cancer survivors aged 15-29 years who had completed therapy more than two years ago. Demographic and medical characteristics were obtained from the patients' medical records...
January 25, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28107452/mice-lacking-hbp1-function-are-viable-and-fertile
#15
Cassy M Spiller, Dagmar Wilhelm, David A Jans, Josephine Bowles, Peter Koopman
Fetal germ cell development is tightly regulated by the somatic cell environment, and is characterised by cell cycle states that differ between XY and XX gonads. In the testis, gonocytes enter G1/G0 arrest from 12.5 days post coitum (dpc) in mice and maintain cell cycle arrest until after birth. Failure to correctly maintain G1/G0 arrest can result in loss of germ cells or, conversely, germ cell tumours. High mobility group box containing transcription factor 1 (HBP1) is a transcription factor that was previously identified in fetal male germ cells at the time of embryonic cell cycle arrest...
2017: PloS One
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#16
Tiffany Yeh, Angela Ganan Soto, Jose Bernardo Quintos, Lisa Swartz Topor
BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28074124/involvement-of-blood-mononuclear-cells-in-the-infertility-age-associated-diseases-and-cancer-treatment
#17
REVIEW
Antonin Bukovsky
Blood mononuclear cells consist of T cells and monocyte derived cells. Beside immunity, the blood mononuclear cells belong to the complex tissue control system (TCS), where they exhibit morphostatic function by stimulating proliferation of tissue stem cells followed by cellular differentiation, that is stopped after attaining the proper functional stage, which differs among various tissue types. Therefore, the term immune and morphostatic system (IMS) should be implied. The TCS-mediated morphostasis also consists of vascular pericytes controlled by autonomic innervation, which is regulating the quantity of distinct tissues in vivo...
December 26, 2016: World Journal of Stem Cells
https://www.readbyqxmd.com/read/28028909/regulation-of-injury-induced-ovarian-regeneration-by-activation-of-oogonial-stem-cells
#18
Piril Erler, Alexandra Sweeney, James R Monaghan
Some animals have the ability to generate large numbers of oocytes throughout life. This raises the question whether persistent adult germline stem cell populations drive continuous oogenesis and whether they are capable of mounting a regenerative response after injury. Here we demonstrate the presence of adult oogonial stem cells (OSCs) in the adult axolotl salamander ovary and show that ovarian injury induces OSC activation and functional regeneration of the ovaries to reproductive capability. Cells that have morphological similarities to germ cells were identified in the developing and adult ovaries via histological analysis...
January 2017: Stem Cells
https://www.readbyqxmd.com/read/27990249/sex-differences-in-sympathetic-innervation-and-browning-of-white-adipose-tissue-of-mice
#19
Sang-Nam Kim, Young-Suk Jung, Hyun-Jung Kwon, Je Kyung Seong, James G Granneman, Yun-Hee Lee
BACKGROUND: The higher prevalence of obesity-related metabolic disease in males suggests that female sex hormones provide protective mechanisms against the pathogenesis of metabolic syndrome. Because browning of white adipose tissue (WAT) is protective against obesity-related metabolic disease, we examined sex differences in β3-adrenergic remodeling of WAT in mice. METHODS: Effects of the β3-adrenergic receptor agonist CL316,243 (CL) on browning of white adipose tissue were investigated in male and female C57BL mice...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27936533/endocrinology-update-testicular-hypogonadism
#20
Joel J Heidelbaugh
Testicular hypogonadism, or androgen deficiency, is defined as a clinical condition resulting from failure of the testes to produce physiologic levels of testosterone and a normal number of spermatozoa because of disruption of the hypothalamic-pituitary-gonadal axis. Testosterone deficiency (TD) is defined as a serum level less than 300 ng/dL on a morning total testosterone test. It is estimated that more than one-third of men 45 years and older have testosterone deficiency. Associated symptoms include decreased libido, erectile dysfunction, decreased physical stamina and strength, depressed mood, fatigue, increased visceral adiposity, sleep disturbance, and/or poor concentration and memory...
December 2016: FP Essentials
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